Finding hope in darkness: Duke neurologist develops and tests new therapy to help understand and prevent neurodegenerative diseases – Duke Department…

Alexandra Angelova was 16 when she began experiencing blurry vision and occasional dizzy spells. Instead of going away, symptoms gradually grew worse. Now nearly a decade later, with her vision at one percent of its original strength and with balance problems that prevent standing or walking unassisted, these symptoms inform every aspect of her daily life.

Angelova gets around the house and walks her dog, Sunny, using a rollator, or seated walker. She presses her back against the wall for balance when going up and down stairs. Every item in her house has a set location so she can find it with her limited vision.

I cannot perform many basic things which are normal for a healthy person, Angelova said. I have to plan every movement and how to do it--how to hold a fork, how to take a shower, and so on.

Angelovas case is typical for people with spinocerebellar ataxia type 7, or SCA7, a chronic, inherited neurodegenerative disease. A child with a parent with SCA7 has a 50 percent chance of inheriting the condition. It is caused by a genetic mutation which causes the body to produce a malformed, toxic version of a normally healthy protein.

Read the full story on Magnify, an online magazine from the Duke University School of Medicine.

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Finding hope in darkness: Duke neurologist develops and tests new therapy to help understand and prevent neurodegenerative diseases - Duke Department...

The Falls and Frustrations of Progressive Supranuclear Palsy – Medscape

I often repeat her presentation to medical students: my only patient ever to fall walking into a clinic visit had progressive supranuclear palsy (PSP).

Her impaired postural reflexes were no match for a set of brick steps. Perhaps she didn't notice the ramp, or didn't appreciate how rapidly her balance had deteriorated. Fortunately, her injuries that day were only minor. As is often the case with PSP, that would not always be the case.

In June 1963, neurologist Dr James Richardson reported eight cases of what would come to be called PSP at the American Neurological Association meeting. A year later, he and his neurologist colleagues John Steele and Jerzy Olszewski first described the disease in the literature.

The classical PSP syndromecalled "Richardson syndrome"is characterized by poor balance, vertical gaze abnormalities, executive dysfunction, and speech impairment. Falls are frequent, and often injurious. Patients can also present with impaired facial expressions, changes in mood, and waning dexterity. Given its rarity and diffuse array of symptoms, PSP is often misdiagnosed as Parkinson disease, or even Alzheimer disease.

The challenge for clinicians is that PSP is an incredibly varied condition, with not all patients presenting the same way. Beyond the classic symptoms, they may also experience a freezing gait, or corticobasal syndrome, an atypical form of parkinsonism. PSP pathology can even present with predominant language impairment, known as "primary progressive aphasia."

I'll call my patient Mrs X. Once she was in the exam room, her abnormal eye movements, changes in speech, and reduced facial expressions confirmed the diagnosis suggested by her falls. She showed classic signs of this little known neurodegenerative disease.

Not surprisingly, she and her husband had never heard of PSP. Most medical students will never learn about it unless they encounter it during their neurology rotation. I reviewed the prognosis and treatment options and introduced an ongoing clinical trial, in which she ultimately enrolled.

Over many visits, I learned about her grandson, whose soccer games she often attended with her husband. We bantered about the local college basketball team. As her disease progressed, I learned how devoted her husband was to her and how appreciative she was for his care. Given the grievous combination of physical and mental impairment that comes with PSP, having support from friends and family can be an essential part of care.

PSP is rare, but not as rare as once thought. The disorder occurs in about 5 in 100,000 persons, a prevalence similar to that of amyotrophic lateral sclerosis. However, given that clinicians have only recently come to appreciate the disease, it is probably underdiagnosed, or misdiagnosed as another movement disorder.

[M]edications rarely help the motor symptoms of PSP. Falls intensify; speech and swallowing worsen....

The early symptoms of PSP can mimic those of Parkinson disease, which is much more common. The lack of response to medications used for Parkinson diseasenamely, levodopaand PSP's more rapid progression can lead to the diagnosis being revised. Singer Linda Ronstadt recently publicly shared that she has PSP, which negatively affected her ability to sing. It was first reported that she had Parkinson disease.

The cause of PSP is unknown. Pathologic reports show that the brains of people with the condition have accumulations of tau protein, a finding also seen in other "tauopathies," such as Alzheimer disease and chronic traumatic encephalopathy. And although variants in the gene coding for tau have been associated with PSP, the condition rarely runs in families. It's for the most part a sporadic condition.

Unlike in Parkinson disease, medications rarely help the motor symptoms of PSP. Physical, occupational, and speech therapy, on the other hand, can be useful, encouraging patients to develop compensatory mechanisms and strategies to reduce falls and improve speech and swallowing. But ultimately, falls intensify; speech and swallowing worsen; and independence is eventually lost.

As is the case with all neurodegenerative diseases, the major unmet need in PSP is a treatment that stops or slows the disorderin other words, a disease-modifying therapy. A number of ongoing treatment trials are investigating monoclonal antibodies directed at tau. Many believe that the accumulation of abnormal tau is pathogenic in PSP, and that clearing it from the extracellular space will disrupt the spread of further pathology. Time will tell whether this strategy pans out.

A silver lining to the rapid decline seen in patients with PSP is that changes in neurologic functioning are easily measured. As more and more therapies are tested, any disease-modifying effect should be evident relatively quickly, which is not the case in many other neurodegenerative disorders, such as Alzheimer disease.

It is a helpless feeling to watch patients worsen, yet have no way to stop their disease or even improve their symptoms. Participating in clinical trials is one way for patients and providers to combat the helplessness. Providing compassionate, multidisciplinary care, when that is all that is available, is another.

Watching Mrs X decline over time, especially her increasingly impaired ability to walk safely, only confirmed for me the importance of developing treatments to lessen the burden of PSP.

Matthew J. Barrett is an associate professor of neurology and a movement disorder specialist at Virginia Commonwealth University in Richmond, Virginia.

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Endovascular Recanalization Is Safe and Effective for… : Neurology Today – LWW Journals

Article In Brief

Evidence from a study of children who had stroke found the safety profile for the use of endovascular recanalization in those with acute, large-vessel occlusion was similar to findings from studies of adult stroke patients. The data support off-label thrombectomy for pediatric stroke.

Pediatric stroke patients undergoing endovascular thrombectomy appear to have mostly favorable neurologic outcomes with low complication rates, a new multicenter retrospective review indicated.

The findings lend support to performing mechanical recanalization for childhood stroke even though prospective randomized clinical trials have investigated its use only in adults, the authors reported in the Save ChildS study published online October 14 in JAMA Neurology.

After reviewing the databases from 27 stroke centers in Europe and the United States, the researchers concluded that endovascular recanalization appeared to be safe with positive outcomes in a real-world setting. The overall proportion of successful recanalization totaled 87 percent.

Several sizeable randomized clinical trials in adults have demonstrated the safety and efficacy of thrombectomy for large intracranial vessel occlusions. However, other than small case series, the potential for this intervention in children had not yet been examined systematically, the study's authors noted.

Etiologies are very different in children and adults, said lead author Peter B. Sporns, MD, MHBA, assistant professor of radiology/neuroradiology at University Hospital Muenster in Muenster, Germany. Results from adult trials cannot be extrapolated to pediatric populations, Dr. Sporns told Neurology Today.

Few children experience this emergency, posing challenges to researchers in designing randomized clinical trials. Arterial ischemic stroke rarely occurs in childhood, but when it strikes two to eight of 100,000 children per year, it can inflict severe disabilities with long-term social and financial consequences. Standard of care relies on supportive medical management tailored to the underlying etiology of arterial ischemic stroke. Thrombolytic and endovascular therapy is only recommended as a last resort, the authors noted.

Dr. Sporns expects the findings to have implications for current treatment guidelines. Endovascular recanalization will become first-line therapy in children with acute ischemic stroke due to large-vessel occlusion, he said. The main message is that endovascular thrombectomy in children can be performed with a similar safety profile and recanalization rate as in adults. Therefore, all physicians should keep this in mind and refer their patients to highly specialized neurointerventional centers.

Meanwhile, Dr. Sporns emphasized the need for pediatric stroke centers worldwide to contribute data to the Save ChildS Pro registry, which he is launching in 2020. We hope that this registry will provide the highest level of evidence for the use of endovascular thrombectomy in children with large intracranial arterial occlusion, he said.

From January 1, 2000 to December 31, 2018, researchers analyzed data for all pediatric patients (<18 years) with ischemic stroke who underwent endovascular recanalization at 27 participating stroke centers. The researchers initially had contacted 42 tertiary stroke centers, but 15 of those centers (36 percent) did not treat any pediatric patients with this technique.

The total cohort at 27 centers consisted of 73 children, with a median age of 11.3 years. Sixty-three children (86 percent) had treatment for anterior circulation occlusion and 10 patients (14 percent) received intervention for posterior circulation occlusion; 16 patients (22 percent) underwent intravenous thrombolysis concomitantly. Median follow-up was 16 months.

The primary outcome was a decline on the Pediatric National Institutes of Health Stroke Scale (PedNIHSS) score from admission day; the score ranges from 0 for no deficit to 34 for maximum deficit.

Secondary clinical outcomes, measured on the modified Rankin scale (mRS)where 0 (for no deficit) to 6 (death)at six and 24 months, evaluated the rate of complications.

The researchers reported improvements in neurologic outcome, with a median PedNIHSS score of 14.0 at admission and 4.0 at day seven. Median mRS score was 1.0 at six months and at 24 months. One patient developed postinterventional bleeding and four patients exhibited transient peri-interventional vasospasm.

To facilitate interpretation of the results in a broader context, investigators compared long-term outcomes in their Save ChildS study to available data from the HERMES meta-analysis trials of adults. They extracted data from intervention arms of seven published HERMES trials.

The proportion of symptomatic intracerebral hemorrhage events in Save ChildS was 1.37 compared with 2.79 in the HERMES meta-analysis.

This is a very optimistic time for pediatric stroke because these techniques of mechanical recanalization are so powerful in adults, said Christine Fox, MD, MAS, co-author of an editorial published concurrently in JAMA Neurology and associate professor of neurology and director of the Pediatric Stroke and Cerebrovascular Disease Center at the University of California, San Francisco.

While she was enthusiastic about the investigation of recanalization in children, Dr. Fox and her co-author advised caution in interpreting long-term outcome measures from the Save ChildS research.

Stroke recovery is heterogeneous in children at various stages of brain development, and the natural history of recovery may be good even in the absence of recanalization, they wrote.

For instance, they pointed out that while only 4 percent of children in the Swiss Neuropediatric Stroke Registry underwent thrombolysis, about half experienced good outcomes without functional deficits. In addition, despite the positive two-year outcomes in the Save ChildS study, selection bias may have affected the results due to data missing for more than one-third of subjects.

More complete data were available for earlier outcomes, but this may not represent the full picture, considering that disabilities in children could emerge over time.

Cognitive and language deficits may initially go unrecognized in a toddler but become apparent as skills required for success in school grow increasingly complex, the editorialists noted.

Furthermore, there are drawbacks to using published studies for comparison purposes. The modified Rankin scales may not accurately reflect outcomes in the youngest children in the Save ChildS study. In addition, outcomes in different studies may not be measured in parallel ways: For example, in the Save ChildS study, the outcomes were evaluated at discharge and at 180 days, compared to at 90 days in the HERMES trials, rendering the comparisons questionable.

However, Dr. Fox stressed the significance of the Save ChildS research. Childhood stroke is difficult to study because it's a relatively uncommon event, she acknowledged. Parents and pediatricians may not recognize symptoms swiftly after onset and within the four-and-a-half-hour treatment window. Bringing together experts across related fields would advance knowledge of stroke mechanisms and recovery with the aim of prevention and better outcomes, Dr. Fox told Neurology Today.

Those with a common interest in childhood cerebrovascular diseasefrom physicians and surgeons to nurses, psychologists, therapists, and scientistscan share their insights through professional groups, she said. Among them is the International Pediatric Stroke Organization, founded in February 2019.

To really understand how to best treat children who have a stroke, we need to continue to collaborate broadly across a number of different disciplines, said Dr. Fox, who often consults with neurointerventional radiologists, neurosurgeons, physiatrists, and hematologists.

If publication of the Save ChildS study raises awareness of pediatric stroke, the heightened attention would be a positive step toward encouraging the design of improved protocols to streamline diagnosis and deliver time-sensitive treatment, said David Y. Huang, MD, PhD, FAHA, FAAN, FANA, professor and chief of the division of stroke and vascular neurology at the University of North Carolina at Chapel Hill.

It's heartening because some data is better than the absence of data, Dr. Huang said, allowing neurologists to feel more confident in recommending endovascular thrombectomy to parents of sick children now that there is data supporting the safety of the procedure. Furthermore, in the absence of alternatives, most parents would agree to it, he added.

In rural areas without a large stroke center in relatively close proximity, it is important to consider lowering the threshold for suspecting a stroke and prompting physicians to seek outside input sooner rather than later, Dr. Huang said.

Even in an era of advanced emergency medical services and improved public awareness of stroke, few pediatric patients arrive at hospitals within the optimal treatment window, said Dana D. Cummings, MD, PhD, associate professor of pediatrics and director of the pediatric stroke program at the University of Pittsburgh Medical Center's Children's Hospital of Pittsburgh.

My hat is off to the centers that provided thrombectomy for these patients at the early time frame in the study, but that's going to be hard to replicate in most settings, said Dr. Cummings, who would like to see a study looking at outcomes in children who present more than 4.5 hours after stroke onset and undergo mechanical recanalization.

As the editorial commentators noted, there may be more neuroplasticity in kids, which complicates the interpretation of outcomes, he said. You wouldn't want to have a stroke at any age, but if you have a stroke at age three, you probably have maximal plasticity for recovery.

The editorial also addressed special considerations for performing thrombectomy in children. It should ideally be undertaken by neurointerventional radiologists skilled in both pediatric endovascular procedures and stroke embolectomy to guide selection of devices appropriate for the smaller cerebrovasculature in children. However, as stent retriever devices have been developed for embolectomy of more distal cerebral arteries, size may become less of a barrier in experienced hands. Caution remains advisable even early after stroke, particularly in young or small patients, the authors wrote.

Planning for a neurointerventional procedure in a child is inherently different, and most adult cases are handled at hospitals with minimal or no pediatric experience.

Clinicians with only adult experience shouldn't feel a sense of obligation to undertake pediatric cases based on this study alone, said Heather Fullerton, MD, MAS, professor and chief of the division of child neurology and medical director of the Pediatric Brain Center in the Benioff Children's Hospital at the University of California, San Francisco.

I am aware of complications anecdotally that haven't been reported in medical literature, she said, citing the tendency to publish successful cases. Nonetheless, the Save ChildS study is a great contribution to this field. It's the first large series on children who have received hyperacute therapy for stroke since all of these new thrombectomy trials really changed standard of care in adults.

To make additional strides in treating childhood stroke, rigorous prospective studies are needed. That's the only way we're going to get really reliable safety data, Dr. Fullerton said.

Dr. Sporns, Fox, and Fullerton had no competing interests. Dr. Cummings has received fees as a consultant on pediatric cerebrovascular disorders from the Vaccine Injury Compensation Program. Dr. Huang has received honoraria for service on a data safety and monitoring boards for Cerenova, LLC and ReNeuron.

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The Association Between Different Subtypes of Major Depressive Disorder and Migraine – Neurology Advisor

While there is a clear association between major depressive disorder (MDD) and migraine, data published in Cephalgia provide evidence for divergent association of lifetime MDD, and MDD subtypes, with the prevalence and severity of symptoms in patients with migraine with and without aura.

It is well known that migraine and depression show a high rate of comorbidity and previous studies have suggested the association is bidirectional, with each disorder increasing the risk for onset of the other. However, limited data are available on the association between MDD subtypes and migraine.

The goal of this cross-sectional study was to assess the associations between atypical, melancholic, combined, and unspecified subtypes of MDD and migraine with and without aura. In addition, the researchers aimed to explore the associations between MDD and its subtypes with the severity of migraine.

The study included 446 patients with migraine (294 with migraine without and 152 with migraine with aura) from the population-based CoLaus/PsyCoLaus cohort study. Researchers only included patients with available information on the comorbidity of MDD. The control group was comprised of 2511 patients with MDD, or its subtypes, but no migraine.

Despite a significant association between lifetime MDD and migraine regardless of subtype, a stronger association was observed in migraine with vs without aura. Further, while all MDD subtypes were associated with migraine in general, all subtypes but atypical MDD were associated with migraine with aura; only melancholic MDD was significantly associated with increased frequency of migraine without aura.

As for the association between MDD and migraine intensity, the statistical analysis revealed a significant association between unspecified MDD subtype with higher migraine intensity only in patients with but not without aura.

Combined MDD, which included subjects with both melancholic and atypical characteristics, was found to be associated with higher migraine frequency, regardless of migraine subtype.

The researchers acknowledged that the study had several limitations, including its cross-sectional design, use of semi-structured interviews that can be associated with inaccurate recall of remote episodes, and a relatively small sample of patients with atypical or combined MDD.

Further studies exploring the pathophysiological mechanisms shared between melancholic depression and migraine are warranted, concluded the researchers.

Disclosure: Several study authors declared affiliations with the pharmaceutical industry. Please see the original reference for a full list of authors disclosures

Reference

Pisanu C, Lundin E, Preisig M, et al. Major depression subtypes are differentially associated with migraine subtype, prevalence and severity. [published online October 1, 2019]. Cephalgia. doi:10.1177/0333102419884935

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The Association Between Different Subtypes of Major Depressive Disorder and Migraine - Neurology Advisor

GeNeuro and the Karolinska Institutet/Academic Specialist Center of Stockholm Agree to Launch a New Clinical Study of Temelimab in Multiple Sclerosis…

GENEVA--(BUSINESS WIRE)--Regulatory News:

GeNeuro (Paris:GNRO) (Euronext Paris: CH0308403085 - GNRO), announced today a collaboration for a new clinical trial of temelimab in multiple sclerosis (MS) with clinical researchers of Karolinska Institutet and the Academic Specialist Center (ASC), Stockholm, Sweden. This single-center study will be led by Dr. Fredrik Piehl, Professor of Neurology at the Department of Clinical Neurosciences of the Karolinska Institutet, and head of research at the MS clinic at ASC.

The trial will be conducted at Center for Neurology of ASC, the largest MS center in Sweden with approximately 2,400 patients. The one-year trial will enroll patients whose disability progresses without relapses, and will document the safety and tolerability of temelimab following higher doses, as well as efficacy based on the latest biomarkers associated with disease progression. The study aims to start enrolling patients in Q1 2020.

It is evident that currently available disease modulatory therapies for MS exert very limited effects on the progressive aspect of MS and that this phase starts early in the disease course. A role of pHERV-W Env in progressive disease worsening is supported by accumulating preclinical and clinical evidence. We are excited to explore the therapeutic potential of temelimab in patients progressing without relapses. This constitutes a key unmet medical need in MS and will allow us to push the boundaries of current therapeutic possibilities, said Prof. Fredrik Piehl, Principal Investigator of the study.

Temelimab is a monoclonal antibody designed to neutralize a pathogenic envelope protein, pHERV-W Env, which has been shown to activate microglia in the brain resulting in an aggressive phenotype attacking myelin1, and to impair the remyelination capacity of the brain through the inhibition of oligodendrocyte precursor cell differentiation2. This collaboration follows the data from GeNeuros ANGEL-MS clinical trial results, presented at ECTRIMS, which demonstrated positive results at two years on key markers associated with disease progression.

Long-term data have confirmed the neuroprotective effect of temelimab in MS and demonstrated its potential to make significant improvements in the lives of patients. We are very proud to be working with Prof. Piehl, who is recognized for his leading research at the Karolinska Institutet and the ASC, to further advance the development of temelimab as a potential treatment against disability progression in MS, said Jess Martin-Garcia, CEO of GeNeuro.

About GeNeuro

GeNeuros mission is to develop safe and effective treatments against neurological disorders and autoimmune diseases, such as multiple sclerosis, by neutralizing causal factors encoded by HERVs, which represent 8% of human DNA. GeNeuro is based in Geneva, Switzerland and has R&D facilities in Lyon, France. It has 24 employees and rights to 17 patent families protecting its technology.

For more information, visit: https://www.geneuro.com

About the Academic Specialist Center

The Academic Specialist Centre is a collaboration between Stockholm Health Care Services and Karolinska Institutet, providing a novel concept for research and intensive outpatient care. It is a part of the Swedish investment in future healthcare aimed at forging stronger links between research and development, education and healthcare.

The ASC provides specialist care to patients with diabetes, MS, Parkinsons and rheumatological disorders, and conducts cutting-edge clinical trials in these indications.

For more information, visit https://ki.se/en/collaboration/collaboration-with-the-health-services

Disclaimer

This press release contains certain forward - looking statements and estimates concerning GeNeuros financial condition, operating results, strategy, projects and future performance and the markets in which it operates. Such forward-looking statements and estimates may be identified by words, such as anticipate, believe, can, could, estimate, expect, intend, is designed to, may, might, plan, potential, predict, objective, should, or the negative of these and similar expressions. They incorporate all topics that are not historical facts. Forward looking statements, forecasts and estimates are based on managements current assumptions and assessment of risks, uncertainties and other factors, known and unknown, which were deemed to be reasonable at the time they were made but which may turn out to be incorrect. Events and outcomes are difficult to predict and depend on factors beyond the companys control. Consequently, the actual results, financial condition, performances and/or achievements of GeNeuro or of the industry may turn out to differ materially from the future results, performances or achievements expressed or implied by these statements, forecasts and estimates. Owing to these uncertainties, no representation is made as to the correctness or fairness of these forward-looking statements, forecasts and estimates. Furthermore, forward-looking statements, forecasts and estimates speak only as of the date on which they are made, and GeNeuro undertakes no obligation to update or revise any of them, whether as a result of new information, future events or otherwise, except as required by law.

1 Kremer et al., PNAS July 20192 Kremer et al., Annals of Neurology, June 2013; Gttle et al, Glia, August 2018

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GeNeuro and the Karolinska Institutet/Academic Specialist Center of Stockholm Agree to Launch a New Clinical Study of Temelimab in Multiple Sclerosis...

Circulating cortisol and cognitive and … – n.neurology.org

Justin B. Echouffo-Tcheugui

From the Division of Endocrinology, Diabetes and Hypertension (J.B.E.-T.), Brigham and Women's Hospital/Harvard Medical School, Boston; National Heart, Lung, and Blood Institute (J.B.E.-T., S.C.C., J.J.H., A.S.B., R.S.V., S.S.), Framingham Heart Study, MA; Department of Neurology (S.C.C., J.J.H., A.S.B., S.S.) and Sections of Preventive Medicine and Epidemiology (R.S.V.) and Cardiology (R.S.V.), Department of Medicine, Boston University School of Medicine; Departments of Biostatistics (J.J.H., A.S.B.) and Epidemiology (R.S.V.), Boston University School of Public Health, MA; Department of Neurology (P.M., C.S.D.), University of California, Davis, Sacramento; and Glenn Biggs Institute of Alzheimer's and Neurodegenerative Diseases (S.S.), University of Texas Health Sciences Center, San Antonio.

Sarah C. Conner

From the Division of Endocrinology, Diabetes and Hypertension (J.B.E.-T.), Brigham and Women's Hospital/Harvard Medical School, Boston; National Heart, Lung, and Blood Institute (J.B.E.-T., S.C.C., J.J.H., A.S.B., R.S.V., S.S.), Framingham Heart Study, MA; Department of Neurology (S.C.C., J.J.H., A.S.B., S.S.) and Sections of Preventive Medicine and Epidemiology (R.S.V.) and Cardiology (R.S.V.), Department of Medicine, Boston University School of Medicine; Departments of Biostatistics (J.J.H., A.S.B.) and Epidemiology (R.S.V.), Boston University School of Public Health, MA; Department of Neurology (P.M., C.S.D.), University of California, Davis, Sacramento; and Glenn Biggs Institute of Alzheimer's and Neurodegenerative Diseases (S.S.), University of Texas Health Sciences Center, San Antonio.

Jayandra J. Himali

From the Division of Endocrinology, Diabetes and Hypertension (J.B.E.-T.), Brigham and Women's Hospital/Harvard Medical School, Boston; National Heart, Lung, and Blood Institute (J.B.E.-T., S.C.C., J.J.H., A.S.B., R.S.V., S.S.), Framingham Heart Study, MA; Department of Neurology (S.C.C., J.J.H., A.S.B., S.S.) and Sections of Preventive Medicine and Epidemiology (R.S.V.) and Cardiology (R.S.V.), Department of Medicine, Boston University School of Medicine; Departments of Biostatistics (J.J.H., A.S.B.) and Epidemiology (R.S.V.), Boston University School of Public Health, MA; Department of Neurology (P.M., C.S.D.), University of California, Davis, Sacramento; and Glenn Biggs Institute of Alzheimer's and Neurodegenerative Diseases (S.S.), University of Texas Health Sciences Center, San Antonio.

Pauline Maillard

From the Division of Endocrinology, Diabetes and Hypertension (J.B.E.-T.), Brigham and Women's Hospital/Harvard Medical School, Boston; National Heart, Lung, and Blood Institute (J.B.E.-T., S.C.C., J.J.H., A.S.B., R.S.V., S.S.), Framingham Heart Study, MA; Department of Neurology (S.C.C., J.J.H., A.S.B., S.S.) and Sections of Preventive Medicine and Epidemiology (R.S.V.) and Cardiology (R.S.V.), Department of Medicine, Boston University School of Medicine; Departments of Biostatistics (J.J.H., A.S.B.) and Epidemiology (R.S.V.), Boston University School of Public Health, MA; Department of Neurology (P.M., C.S.D.), University of California, Davis, Sacramento; and Glenn Biggs Institute of Alzheimer's and Neurodegenerative Diseases (S.S.), University of Texas Health Sciences Center, San Antonio.

Charles S. DeCarli

From the Division of Endocrinology, Diabetes and Hypertension (J.B.E.-T.), Brigham and Women's Hospital/Harvard Medical School, Boston; National Heart, Lung, and Blood Institute (J.B.E.-T., S.C.C., J.J.H., A.S.B., R.S.V., S.S.), Framingham Heart Study, MA; Department of Neurology (S.C.C., J.J.H., A.S.B., S.S.) and Sections of Preventive Medicine and Epidemiology (R.S.V.) and Cardiology (R.S.V.), Department of Medicine, Boston University School of Medicine; Departments of Biostatistics (J.J.H., A.S.B.) and Epidemiology (R.S.V.), Boston University School of Public Health, MA; Department of Neurology (P.M., C.S.D.), University of California, Davis, Sacramento; and Glenn Biggs Institute of Alzheimer's and Neurodegenerative Diseases (S.S.), University of Texas Health Sciences Center, San Antonio.

Alexa S. Beiser

From the Division of Endocrinology, Diabetes and Hypertension (J.B.E.-T.), Brigham and Women's Hospital/Harvard Medical School, Boston; National Heart, Lung, and Blood Institute (J.B.E.-T., S.C.C., J.J.H., A.S.B., R.S.V., S.S.), Framingham Heart Study, MA; Department of Neurology (S.C.C., J.J.H., A.S.B., S.S.) and Sections of Preventive Medicine and Epidemiology (R.S.V.) and Cardiology (R.S.V.), Department of Medicine, Boston University School of Medicine; Departments of Biostatistics (J.J.H., A.S.B.) and Epidemiology (R.S.V.), Boston University School of Public Health, MA; Department of Neurology (P.M., C.S.D.), University of California, Davis, Sacramento; and Glenn Biggs Institute of Alzheimer's and Neurodegenerative Diseases (S.S.), University of Texas Health Sciences Center, San Antonio.

Ramachandran S. Vasan

From the Division of Endocrinology, Diabetes and Hypertension (J.B.E.-T.), Brigham and Women's Hospital/Harvard Medical School, Boston; National Heart, Lung, and Blood Institute (J.B.E.-T., S.C.C., J.J.H., A.S.B., R.S.V., S.S.), Framingham Heart Study, MA; Department of Neurology (S.C.C., J.J.H., A.S.B., S.S.) and Sections of Preventive Medicine and Epidemiology (R.S.V.) and Cardiology (R.S.V.), Department of Medicine, Boston University School of Medicine; Departments of Biostatistics (J.J.H., A.S.B.) and Epidemiology (R.S.V.), Boston University School of Public Health, MA; Department of Neurology (P.M., C.S.D.), University of California, Davis, Sacramento; and Glenn Biggs Institute of Alzheimer's and Neurodegenerative Diseases (S.S.), University of Texas Health Sciences Center, San Antonio.

Sudha Seshadri

From the Division of Endocrinology, Diabetes and Hypertension (J.B.E.-T.), Brigham and Women's Hospital/Harvard Medical School, Boston; National Heart, Lung, and Blood Institute (J.B.E.-T., S.C.C., J.J.H., A.S.B., R.S.V., S.S.), Framingham Heart Study, MA; Department of Neurology (S.C.C., J.J.H., A.S.B., S.S.) and Sections of Preventive Medicine and Epidemiology (R.S.V.) and Cardiology (R.S.V.), Department of Medicine, Boston University School of Medicine; Departments of Biostatistics (J.J.H., A.S.B.) and Epidemiology (R.S.V.), Boston University School of Public Health, MA; Department of Neurology (P.M., C.S.D.), University of California, Davis, Sacramento; and Glenn Biggs Institute of Alzheimer's and Neurodegenerative Diseases (S.S.), University of Texas Health Sciences Center, San Antonio.

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Circulating cortisol and cognitive and ... - n.neurology.org

The Loneliness of Frontotemporal Dementia – The New York Times

After two years of worsening symptoms, the Kargers found Dr. Murray Grossman at the University of Pennsylvania. Dr. Grossman is short and charismatic, a quick-witted Montreal native who has mentored me since I began training in neurology. For the past several decades, he has pioneered research on neurodegenerative diseases that change behavior and language. When he saw Mr. Karger in 2007, the diagnosis was clear within the hour: Mr. Karger had a type of frontotemporal dementia.

Frontotemporal dementia attacks people in their fifth or sixth decade, just as retirement comes within reach. Doctors believe the disease affects 60,000 people in the United States alone. Neurons in the front and side of the brain wilt, and along with them, images of peacefully growing old fade. Judgment and complex planning yields to chaotic disorganization. Inhibitions give way to impulsivity and hypersexuality, so that longtime faithful partners look to affairs and excessive pornography. Empathy turns to apathy. Obsessions and compulsions erupt. Language can become laborious; the meaning of words and objects can be lost, and fluent speech can dissolve into fragments of sentences with nonsensical grammar. Jarringly, memory remains largely untouched. Since brain areas that dictate personality are often the first to suffer, most people end up on a therapists couch long before finding their way to a neurologist.

In the throes of the disease, many families seek out others who might be experiencing something similar. The support group is helpful, because this can be a very lonely thing, said Ms. Karger, now 80, who is a co-leader of a support group for caregivers of those with frontotemporal dementia. She paused, then repeated, it can be very, very lonely.

When I visited Ms. Kargers support group this spring, members shared practical advice. Im having trouble getting my wife to shower, one man said, describing a common manifestation of apathy. Its been five weeks. Another man said he gets his wife to bathe by putting her toe or finger under the faucet first, so the wetness doesnt feel as foreign. A third person recommended giving up altogether in favor of dry shampoo and baby wipes.

A man asked about obsessions. With a tinge of humor, people recounted items their partners had fixated on: organizing glasses at a family wedding, aligning dirty dishes at Panera, fluffing pillows. You could be bleeding to death, and all shed want to do is rearrange the pillows, another man said.

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The Loneliness of Frontotemporal Dementia - The New York Times

Ocrevus Top Choice of US Neurologists for Active SPMS, But Mayzent and Mavenclad Gaining Interest, Report Says – Multiple Sclerosis News Today

GenentechsOcrevus(ocrelizumab) continues to be the most prescribed medication to reduce inflammatory disease in people with active secondary progressive multiple sclerosis(SPMS) amongU.S. neurologists, even though NovartisMayzent(siponimod) and EMD SeronosMavenclad(cladribine) were approved in March to treat this same MS group, according to a 2019 report bySpherix Global Insights.

Ocrevus, the only treatment approved for primary progressive MS, is also the choice for delaying disability progression in people with PPMS.

But Spherixs latest report, titled RealWorld Dynamix: Progressive Forms of Multiple Sclerosis (US) and based on asurvey of 157 U.S. neurologists and prescription data they provided, suggests that Mayzent and Mavenclad are gaining on Ocrevus for active SPMS patients.

Mayzent and Mavencladwere the first MS therapies whose U.S. Food and Drug Administration (FDA) approvals explicitly included both active SPMS and relapsing-remitting MS (RRMS) under the umbrella of relapsing MS forms.

Older MS medications subsequently had updates to their labels as well, adding clinically isolated syndrome (CIS) and active SPMS indications to be consistent with the revised definition of relapsing MS.

Possibly influenced by these updates, a shift appears to be underway in how neurologists identify and treat active SPMS patients. These doctors were more likely to estimate that patients had transitioned from RRMS to SPMS in 2019 than they were in last years report.

According to a press release summarizing the report, a majority of neurologists surveyed (more than two-thirds) are now confident they can tell if an RRMS patient is transitioning. Compared to one year ago, more are also likely to agree that relapsing MS treatments are effective for active SPMS.

SPMS patients continue to switch their medications mostly due to efficacy concerns, especially in terms of disability progression, the report showed. Many patients switch from an injectable, such asTevas Copaxone(glatiramer acetate) or Biogens Tecfidera (dimethyl fumarate). The use of Mayzent already the second most-preferred therapy for active SPMS and biologics (monoclonal antibodies) for these patients has been raising as well.

In fact, neurologists said they favor Mayzent, Mavenclad, or Sanofi Genzymes Lemtrada (alemtuzumab) when a next-line switch is needed in people with active SPMS. (Mavenclads approval came with a general recommendation that it be a second-line therapy option.) This trend will likely weigh on Ocrevus in this patient group.

Nonactive, or non-relapsing, SPMS is currently the MS type with the greatest unmet need. No approved therapies exist for these patients, in stark contrast to those with other disease types.

Several companies are trying to fill this gap, with clinical development programs ongoing in several investigational treatments. But neurologists remain skeptical about their likely success.

MedDay Pharmaceuticals Qizenday (MD-1003, high-dose biotin), AB Sciences masitinib, and MediciNovas ibudilast are either in or readying Phase 3 trials for nonactive SPMS.

Pivotal trials for MD-1003(NCT02936037) and masitinib (NCT01433497) are fully enrolled, while ibudilasts trial has yet to launch.

MediciNovaannounced that its Phase 3 study aiming for ibudilasts approval would enroll only SPMS patients without relapses, clearly focusing on the high need for therapies here.

However, the neurologists surveyed did not appear to see much value in potential treatments for nonactive SPMS, largely comfortable with off-label therapies. Clinical trials for this SPMS population will need to show compelling data to convince the medical community these treatments effectively slow disability progression in the absence of ongoing inflammation.

Novartis Gilenya (fingolimod) is currently more favored for nonactive MS patients than Ocrevus, possibly indicating that neurologists will want to transition patients to Mayzent.

Both Mayzent and Gilenya belong to the same class of medications, that ofsphingosine 1-phosphate (S1P) receptormodulators. Ocrevus works through a differentmechanism, inducing immune B-cell depletion.

Ana is a molecular biologist with a passion for discovery and communication. As a science writer she looks for connecting the public, in particular patient and healthcare communities, with clear and quality information about the latest medical advances. Ana holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she specialized in genetics, molecular biology, and infectious diseases

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Patrcia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.

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Ocrevus Top Choice of US Neurologists for Active SPMS, But Mayzent and Mavenclad Gaining Interest, Report Says - Multiple Sclerosis News Today

Menstrual Migraine: Revisiting the Relationship Between Hormonal Events and Migraine – Neurology Advisor

In light of important new information reported on menstrual migraine (MM) in recent years, including evidence that has led to a revision of the International Classification of Headache Disorders, 3rd edition (ICHD-3) criteria for MM, a narrative review aimed to summarize recent data on pathophysiology, epidemiology, burden of disease and treatment of MM was published in the Journal of Neurology.

The goal of this review was to provide an updated overview on the topic of MM. Researchers conducted a literature search to identify relevant studies, reviews and abstracts from MEDLINE, PubMed, Cochrane Library and EMBASE databases published between 1972 and October 2019.

According to the ICHD-3 classification, a diagnosis of MM includes both migraine related to menstruation (MRM) and pure menstrual migraine (PMM) and there are criteria for PMM and MRM with and without aura. In both cases, women reported that migraines occur more frequently during menses, and that those are more severe than other migraines. The diagnostic criteria included migraine attacks in a menstruating woman that occur in a range of 2 days before to 3 days after menstruation in 2 of 3 menstrual cycles.

Estrogens play multiple actions in migraine when intense hormonal fluctuations occur leading up to and immediately after menstruation. The estrogen withdrawal hypothesis, described more than 40 years ago, relates to estrogen fluctuations across the menstrual cycle and has been implicated in the initiation of migraine attack. The drop in estrogen levels mid-cycle can lead to a significant increase in prostaglandins, resulting in neurogenic inflammation, release of various neuropeptides, including substance P, neurokinins and calcitonin gene-related peptide (CGRP). Furthermore, estrogens and estrogen receptors are widely expressed in the brain and in

the trigeminovascular system. A clear association between progesterone fluctuations and migraine attacks was not appreciated.

As for the genetic aspects of MM, polymorphisms in tumor necrosis factor alpha (TNF), Spectrin Repeat Containing Nuclear Envelope 1 (SYNE1), and neurophilin 1 (NRP1) gene were found to be associated with MM.

MRM is more common than PMM and studies have reported wide variations in the prevalence MM, with one Norwegian study reporting a prevalence of 7.6%. Of note, a higher occurrence of MM along with menstrual cycle synchrony was evident among women living together, compared with those living alone.

It is noted that MM may change over a womans reproductive life. Higher headache intensity was reported among women with MM during early pregnancy and postpartum period, compared with those without MM. Although serum estradiol levels are low during the perimenopausal period, MM can appear during menopausal transition.

Compared with nonmenstrual migraine, attacks of MM are frequently more debilitating with longer duration, higher recurrence rate and lower response rate to acute treatment. However, there are no specific treatment options for MM approved by the United States Food and Drug Administration or the European Medicine Agency.

The available treatment options for acute migraine including triptans, nonsteroidal anti-inflammatory drugs (NSAID) and ergot derivatives. Triptans have the strongest evidence for acute MM treatment, with positive reports on the use of almotriptan, naratriptan, sumatriptan, and zolmitriptan.

Preventive treatment may be important as the response to acute treatment is frequently limited. Short-term prophylactic therapies administered only during the perimenstrual period include triptans, estrogen, and naproxen. Triptans also have the strongest evidence for preventive MM treatment, including frovatriptan, naratriptan, and zomitriptan.

Continuous prophylactic treatment with hormonal contraceptives may be effective, but there are concerns regarding the risk for vascular disease and stroke associated with these agents. Furthermore, oral contraceptives should not be used for MM with aura, as they may further increase the vascular risk. Limited data are available on the use of phytoestrogens, Vagus Nerve Simulation and Onabotulinium A for MM prophylaxis.

Additional studies have suggested a potential benefit for perimenstrual use of telcagepant, a CGRP receptor antagonist. Several additional antibodies directed against CGRP or CGRP receptor may prove to be useful in these cases. The development of ditans and gepants might represent a major progress, not only in the treatment of migraine, but also in the treatment of MM.

Understanding the mechanisms that contribute to neuroendocrine vulnerability in some women and some menstrual cycles may yield possible marker of the disease opening treatment options specifically targeting MM, concluded the study authors. They also note that, An increased interest for future research on the subject will further elucidate how to manage this debilitating type of migraine.

Reference

Cupini LM, Corbelli I, Sarchelli P. Menstrual migraine: what it is and does it matter? [published online January 28, 2020]. J Neurol. doi:10.1007/s00415-020-09726-2

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Menstrual Migraine: Revisiting the Relationship Between Hormonal Events and Migraine - Neurology Advisor

Neurology – sphcs.org

Neurological services available at St. Peter's include treatment and rehabilitation for patients who suffer strokes, seizures, epilepsy and other diseases of the brain, nerves, spinal cord and muscles. Our neurologists and neurosurgeons also treat headaches, dementia (including Alzheimer's disease), multiple sclerosis (MS), Parkinson's disease, carpal tunnel syndrome, migraines and chronic pain. Because of its comprehensive stroke program, St. Peter's has been named by the NYS Department of Health as a Designated Stroke Center.

Similar to a heart attack, a stroke (or "brain attack") occurs when a blood vessel that carries oxygen and nutrients to the brain is either blocked by a clot or bursts. This interruption of blood flow deprives the brain cells of oxygen and glucose, and they die. As a result,all body functions controlled by the affected area of the brainare impaired.

Stroke is the leading cause of disability among adults in New York State and the third leading cause of death in the United States. However, strokes can be prevented, and, if a stroke occurs, fast and effective treatment can minimize the damage.

Visit the followingpages formore information on stroke and stroke prevention.

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New migraine medication given the green light – ABC News

Migraines are the second leading cause of disability worldwide, with more than 30 million adults affected. They can be painful, incapacitating and can last up to 72 hours without medication and often require some trial and error before finding the best treatment to control the pain.

Thats why doctors and patients are excited when a new anti-migraine option is available. In this case, it's medicine called Reyvow.

Reyvow is a new prescription medication that was recently approved by the Drug Enforcement Administration and is now available at pharmacies. Its believed to act both centrally and peripherally, (which means it acts on the brain as well as on all the other nerves throughout the body). And its the first medication that has been shown to provide pain freedom from headaches and freedom from associated symptoms like nausea and sensitivity to light and sound.

"Reyvow is a new alternative treatment for acute migraines in patients not responding to medicine who have disabling problems. Having a migraine is like waiting for a hurricane to come and trying to close the windows," Dr. Peter Goadsby, Neurologist and Headache specialist at the University of California San Francisco told ABC news.

The Food and Drug Administration and the DEA have approved Eli Lillys Reyvow (lasmiditan) as the first oral medication of its class to treat acute migraines and bothersome symptoms in adults with or without aura (visual or sensory sensations before a migraine).

"We know that the migraine community is keenly interested in additional treatment options, and we remain committed to continuing to work with stakeholders to promote the development of new therapies for the acute and preventive treatment of migraine," Dr. Nick Kozauer, acting deputy director of the Division of Neurology Products in the FDAs Center for Drug Evaluation and Research, said in a statement following the FDA's approval.

A migraine is a neurological disease characterized by recurrent attacks of severe headache that can cause intense pain, nausea, vomiting, sensitivity to light and sensitivity to sound.

Although the American Headache Society currently recommends triptans (anti-migraine medicine) for immediate relief in certain patients, a survey of 183 patients from three headache centers showed that 79% of patients were willing to try another acute treatment.

Prior to Reyvow, triptans have been on the market since the early '90s and have accounted for almost 80% of migraine treatments prescribed at office visits. Reyvow is unique because it is a new, fast anti-migraine oral medication that eliminates pain and other symptoms within two hours of treatment, according to the FDA.

There is a need for Reyvow because migraines remain under-recognized and undertreated.

"Results from the OVERCOME study revealed that more than 40% of people who know at least one person with migraine felt that the disease is used as an excuse to avoid family, work, or school commitments, and almost 1 in 3 people believed those with migraine make things more difficult for their co-workers. These findings indicate ripple effects from the lack of understanding and respect for the disability faced by people with migraine," Dr. Eric Pearlman, senior medical director, Eli Lilly, told ABC news.

Another study of 5591 people with migraines found that approximately 40% of people had 1 or more unmet needs.

"Pain relief is not enough. Patients want to get back to their life. They want pain freedom from headaches and no associated symptoms," Pearlman said.

Reyvow is taken as a single dose (50mg, 100mg, or 200mg) with or without food at the onset of migraine. Studies, according to the company, showed that 28-39% of patients achieved fast and complete elimination of migraine pain at two hours compared to 15- 20% with placebo. Among individuals who took these doses, 41-49% of achieved freedom from their most bothersome symptoms.

The Food and Drug Administration headquarters in White Oak, Md.

Unlike triptans, patients who have heart disease, peripheral vascular disease, uncontrolled high blood pressure, or history of stroke can take Reyvow as long as their heart rate and blood pressure are monitored because the drug targets nerves rather than blood vessels. Reyvow activates the (5-HT) 1F receptors that increase serotonin (neurotransmitters) and inhibiting pain pathways although the exact mechanism is unknown.

Side effects of Reyvow include dizziness, sedation, headache, fatigue, nausea, vomiting, muscle weakness and serotonin syndrome. Given the side effects, it is not recommended that individuals on this medicine drive or operate heavy machinery within eight hours of taking the medicine. Also caution is warranted when taken in combination with alcohol or other central nervous system depressants.

While Reyvow is the first of a new class, it contains lasmiditan, which is a controlled substance, and at low doses, can create feelings of relaxation, euphoria and possibly hallucinations. However, Eli Lillys Reyvow received a scheduled V drug rating. Scheduling of drugs refers to the abuse and or dependence potential and accessibility of medications from health care providers. Lower scheduled drugs (I and II) have higher abuse and / or dependence potential and do not allow for prescription refills due to tighter regulations.

Reyvow is approximately $640 for a package of 8 tablets. It is expected to be covered by insurance companies and out-of-pocket cost can vary depending on the insurance type. It is important to note that Reyvow.com has a co-pay assistance program on its website.

If you suffer from migraines, it is important to establish a good relationship with your healthcare provider to discuss the effectiveness of your migraine treatment. Talk to your healthcare provider for more information and to see if Reyvow is right for you.

"Have a next best step and a plan B," Goadsby recommends.

Dr. Blair Chance is a resident physician in preventive medicine at the University of South Carolina and member of the ABC News Medical Unit.

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New migraine medication given the green light - ABC News

Global Artificial Intelligence in Medical Imaging Market Trends 2020 by Applications: Neurology, Cardiovascular, Breast & Lung, Other – Nyse…

Acquire Market has introduced a new market research study, titled Artificial Intelligence in Medical Imaging MarketReport which provides detailed coverage of the specialty Artificial Intelligence in Medical Imaging product industry and main market trends. The Artificial Intelligence in Medical Imaging research report studies the market size, Artificial Intelligence in Medical Imaging industry share, key drivers for growth, major segments, and CAGR. The leading players are competing on the basis of product differentiation, states a new research report by Acquire Market Research [AMR]. The market segmentation has been done on the basis of consensus made, product type, key industrial players, competitive landscapes, applications, end-user, topological players, and more.

Major Market Players Covered In This Report: Google Inc., Cisco, IBM Corp., Microsoft Corp., Apple Inc., Salesforce Inc., Infineon Technologies AG, Intel Security Group, NVIDIA Corp., Amazon Inc.

The research methodology of the market involves both primary as well as secondary research data sources. It highlights different factors affecting the Artificial Intelligence in Medical Imaging industry such as market environment, various policies of the government, past data and market trends, technological advancements, upcoming innovations, market risk factors, market restraints, and challenges in the industry.

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The key product type of Artificial Intelligence in Medical Imaging market are: Deep Learning, Computer Vision, Other

Artificial Intelligence in Medical Imaging Market Outlook by Applications: Neurology, Cardiovascular, Breast & Lung, Other

Artificial Intelligence in Medical Imaging Market Company overview, financial overview, product portfolio, new product launched, recent development analysis are the parameters included in the profile. The study then describes the drivers and restraints for the market along with the impact they have on the demand over the forecast period. Furthermore, the report comprises the study of opportunities available in the market on a global level.

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The information detailed in this report provides an overview of the latest trends and development plans, patterns, and policies observed in the global market. Moreover, the study provides an analysis of the latest events such as the technological advancements and product launches and their eventual consequences on the global Artificial Intelligence in Medical Imaging market.

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Conclusively, the report includes the methodical description of the various factors such as Artificial Intelligence in Medical Imaging market growth and a piece of detailed information about the different companys revenue, growth, technological developments, production, and other strategic developments.

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Global Artificial Intelligence in Medical Imaging Market Trends 2020 by Applications: Neurology, Cardiovascular, Breast & Lung, Other - Nyse...

TESS Research Foundation Selected as Part of Chan Zuckerberg Initiative Rare As One Project – Yahoo Finance

Menlo Park, Calif.-Based Foundation Receives Key Funding to Support Goal to Cure Genetic Form of Epilepsy in Children

Today, TESS Research Foundation (TESS) was announced as an awardee of the Chan Zuckerberg Initiative (CZI) Rare As One Project. TESS was selected due to its innovative, patient-led approach to finding a cure and treatments for SLC13A5 Deficiency, a rare genetic epilepsy that causes a lifetime of debilitating seizures that begin within hours of birth. TESS Research Foundation was one of only 30 patient-led organizations in the country to be selected and was awarded $450,000 in grant funding.

This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200203005601/en/

Maggie (10), Tessa (16, has SLC13A5 Deficiency), Zach (Dad, Founder), Kim (Mom, Founder), Colton (6, has SLC13A5 Deficiency) and Lily (12) (Photo: Business Wire)

As CZI states in their announcement: "Rare disease is anything but rare: as many as 7,000 rare diseases affect 400 million people worldwide. The vast majority of these diseases are not well known or understood, and fewer than five percent have any FDA-approved therapy. The knowledge and learnings of patients suffering from these diseases are key to driving breakthroughs in research and treatment, but a lack of funding and infrastructure to support such patient-led research is holding that progress back."

TESS Research Foundation knows this story all too well. TESS was founded by Kim and Zach Nye, parents of four young children who live in Menlo Park, California. Two of their children, Tessa (age 16) and Colton (age 6), suffer from a rare genetic disorder that was previously unknown and caused the children to have hundreds of seizures daily since birth. The Nyes launched TESS Research Foundation in 2015 to fund research to better understand why mutations in the SLC13A5 gene cause neurological disease and to find the best treatment options. Thanks to the research and collaborations spearheaded by TESS, treatments for the disorder are ready to move into clinical trials within the next two years with sufficient funding. Children around the world have been diagnosed with this disease, which causes chronic seizures, a movement disorder and a severe communication disorder.

"We are so grateful to CZI for their vision and leadership, helping organizations like ours develop cures for diseases like SLC13A5 Deficiency," said Kim Nye, Co-Founder and Executive Director of TESS Research Foundation. "As the mother of two children with SLC13A5 Deficiency, I have watched my children suffer from hundreds of thousands of seizuressomething I hope fewer moms will be able to say in the near future as we discover new cures for genetic epilepsy."

CZI announced $13.5 million in funding to 30 patient-led organizations that are working to find treatments and cures for rare disease. These grants are part of CZIs Rare As One Project, aimed at supporting and lifting up the work that patient communities are doing to accelerate research and drive progress in the fight against rare diseases.

"No one is more committed to finding cures for rare diseases than the patients and families of those affected by these disorders," said Priscilla Chan, Co-Founder & Co-CEO of CZI. "We are proud to support patient-led organizations as they pursue diagnoses, information, and treatment options in partnership with researchers and clinicians."

Story continues

The grant funding will allow TESS to build the infrastructure necessary to raise funding for collaborative research and a cure. The grant will also bring together key stakeholders patients, clinicians, researchers, and industry at the International SLC13A5 Deficiency Research Roundtable March 22-23, 2020 in Dallas, Texas. The TESS Board of Directors and Scientific Advisory Board will remain all-volunteer. Its members include Brenda Porter, MD, PhD, Professor of Neurology and Matthew Bainbridge, PhD, Associate Director of Clinical Genomics Research at Rady Childrens Hospital San Diego, who will also serve as the Primary Clinician and Primary Researcher, respectively, on the TESS Rare As One grant.

"As a pediatric neurologist for the past 23 years, I have taken care of many children with severe neurologic disorders, and the quest for a cure seemed like an unrealistic vision," said Brenda Porter, MD, PhD, Professor of Neurology and head of the TESS Research Foundation Scientific Advisory Board. "Today, I am excited as the path forward for curing genetic disorders including SLC13A5 may be attainable with tools under development. Watching Tessa and Colton, who understand so much but are stuck in bodies they cannot control, is heartbreaking and I look forward to them being able to share who they are with all of us."

For more information about TESS Research Foundation and for complete bios on the Scientific Advisory Board, visit http://www.TESSresearch.org.

For more information about Rare As One, click here.

For more information about the Chan Zuckerberg Initiative, click here.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200203005601/en/

Contacts

Lilly Iffert Singer Associates (415) 227-9700 Lillian@singersf.com

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TESS Research Foundation Selected as Part of Chan Zuckerberg Initiative Rare As One Project - Yahoo Finance

Comorbidities May Influence Recovery in Service Members With Concussion – Neurology Advisor

Deployed US military service members with concussion commonly have comorbid conditions that may influence their clinical course and overall recovery, according to study results published in Headache.

Previous studies have established an association between comorbidities and chronic post-concussive syndrome, which may also be present immediately following a deployment-related concussion. The objective of this study was to describe the clinical characteristics of a group of deployed US military service members following deployment-related concussion.

This study, which was a retrospective chart review, was performed by the treating neurologist of 40 deployed service members during Operation Enduring Freedom between October 2010 and April 2011. During this time, the neurologist performed comprehensive neurologic evaluations on each patient and collected data on clinical symptoms and comorbidities, including evidence of migraine that existed prior to concussion.

Results revealed that headache was the most frequently reported acute symptom after concussion, which occurred in 38 (95%) of the service members. After headache, the most frequently reported symptoms were insomnia (n=33; 82.5%), impaired concentration (n=25; 62.5%), and tinnitus (n=24; 63% with 2 unreported), followed by impaired memory, nausea, dizziness, irritability, anxiety, impaired balance, acute stress, depression, hearing loss, and visual symptoms.

The most frequent co-occurring conditions identified as potentially contributing to clinical presentation were concurrent injuries, anxiety and/or depression, painkiller overuse, and acute stress reaction. The most frequent chronic comorbidities identified were chronic headache, history of more than 2 recurrent concussions, anxiety and/or depression, longstanding insomnia, post-traumatic stress disorder, painkiller overuse, and severe musculoskeletal pain.

A history of headache pre-deployment was reported by 25 (63%) service members. Of these 25 service members, 21 (84%) reported migraine features or triggers. Thirty-four of the 40 service members (85%) were initially treated with nonsteroidal anti-inflammatory drugs for their headaches, with 26 reporting a positive response. Sixteen service members were subsequently treated with triptans, with 12 reporting moderate though incomplete treatment response within 2 hours.

This study had several limitations. First, the study had a relatively small sample size and findings may not be generalized to all service members following concussion regardless of deployment status. Second, data were based on self-report by service members, presenting a risk for memory bias. Third, some patients in the cohort had concussions during the current deployment and prior to deployment, which may have added to the complexity of interpreting clinical presentation. Lastly, data was lacking on pre-deployment annual health assessments performed on service members.

The study researchers concluded that post-traumatic headaches secondary to blast injury may be associated with co-occurring conditions in deployed US military service members and that earlier diagnosis of migraine may allow opportunities to optimize pharmacologic management and improve the clinical course following concussion.

Reference

Scott BR, Uomoto JM, Barry ES. Impact of pre-existing migraine and other co-morbid or co-occurring conditions on presentation and clinical course following deployment-related concussion [published online January 3, 2020]. Headache. doi: 10.1111/head.13709

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Neurological Biomarkers Market to Witness an Outstanding Growth by2018 2026 – Instant Tech News

Global Neurological Biomarkers Market: Overview

The global neurological biomarkers market is expected to witness a rapid growth with the prevailing neurological disorder cases all over the world. A major percentage of world population is affected by neurological disorders, this in turn is causing major disabilities globally. Due to the high incidence of neurological disorders, there is the need for biomarkers as biomarkers measure biological states and are used for indication of both pathogenic as well as normal biological process in terms of therapeutic intervention. Biomarkers can also be utilized in combination for accessing the state of the disease of an individual.

There are different variations of biomarkers in the market on the basis of type, application and end users. Based on application, the global neurological biomarkers market is segmented into Spinal Muscular Atrophy (SMA), Multiple Sclerosis, Depression, Schizophrenia, Huntington disease, Parkinson disease, and Alzheimer disease. With respect to type, biomarkers are classified into Imaging biomarkers, Metabolomics Biomarkers, Proteomic Biomarkers, and Genomics Biomarkers. Among these, genomics biomarker is anticipated to hold a larger share in the overall market as compared to the others. On the basis of end users, the neurological biomarkers market is categorized into hospitals and research institutes and diagnostic centers.

The report presented here is a complete evaluation of the global neurological biomarkers market with large focus on market dynamics that also includes the market drivers, restraints, and trends and opportunities. It also offers geographical and other segmentation studies of the market.

Global Neurological Biomarkers Market: Trends and Opportunities

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The market for neurological biomarkers is anticipated to remain active with the urge in research initiatives that are taking place. The demand for validating and identifying biomarkers from large population is huge. The research process is being conducted with the help of this method, thus increasing the expectancy of accelerating the neurological biomarkers market growth in the future years.

With the introduction of new neurological biomarkers, the neuropathologists will have to play a crucial role in selection and characterization of suitable treatment strategies. Furthermore, with the advent of personalized and telehealth medication, single-cell biosensors are emerging. These single-cell biosensors can help to integrate molecular and clinical information on a large scale.

Biomarkers are also used for those patients who suffer from traumatic brain injury, subarachnoid hemorrhage, intracerebral hemorrhage, and acute ischemic stroke. The recovery of such crucial and neurocritical diseases is dependent on the mitigation of the patient. In these kind of situations, there may be a delay in conducting image studies or proper examination of the patient because of the complexities involved. This flaw has promoted the use of biomarkers in the market. As the demand for neurological concern is on the rise, so is the market for neurological biomarkers is also on the rise.

Global Neurological Biomarkers Market: Regional Analysis

The global neurological biomarkers market is classified into the regions of Middle East and Africa, Asia Pacific, Latin America, North America and Europe. . Owing to the presence of many noteworthy players, North America is projected to be witnessing a larger share of the overall market as compared to the other regions. A number of research and development projects are carried out in various areas of North America and academic universities have also received the fund provided by the government in order to undertake research.

Apart from North America, the region anticipated exhibit a faster growth is Asia Pacific. This is because of the large population base, and the increasing incidental rates of neurological abnormalities. Apart from that, factors like rising number if geriatric population and the entry of new players into the market may also add pace to the overall market growth of the Asia Pacific region in the years to come.

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Global Neurological Biomarkers Market: Companies Mentioned

Major companies in the neurological biomarkers market are Athena Diagnostics, Myriad RBM, AbaStar MDx, QIAGEN, and Thermo Fisher Scientific.

MRR.BIZ has been compiled in-depth market research data in the report after exhaustive primary and secondary research. Our team of able, experienced in-house analysts has collated the information through personal interviews and study of industry databases, journals, and reputable paid sources.

The report provides the following information: Tailwinds and headwinds molding the market trajectory Market segments based on products, technology, and applications Prospects of each segment Overall current and possible future size of the market Growth pace of the market Competitive landscape and key players strategies

The main aim of the report is to: Enable key stakeholder in the market bet right on it Understand the opportunities and pitfalls awaiting them Assess the overall growth scope in the near term Strategize effectively with respect to production and distribution

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Neurological Biomarkers Market to Witness an Outstanding Growth by2018 2026 - Instant Tech News

Neurosurgeons announce participating providers in state’s Empire Plan network – Community News – The Island Now

Rockville Centre, NY-based Neurological Surgery, P.C. (NSPC), one of the nations largest, private neurosurgical groups, has announced that all of its doctors, including its spine surgeons, brain surgeons, and interventional neuroradiologists, are now in-network, participating providers for members of The Empire Plan.

The Empire Plan is part of the New York State Health Insurance Program (NYSHIP), a comprehensive health insurance program for New York State public employees.

For over 60 years, the physicians of our practice have provided excellent neurosurgical care to patients from Long Island, and beyond notes Michael H. Brisman, M.D., an attending neurosurgeon, and chief executive officer of Neurological Surgery, P.C. (NSPC). By combining a high level of training with expertise and skill, our doctors bring advanced neurosurgical practice to diagnose and treat brain, back, and neck conditions right here on Long Island. Im delighted that my colleagues and I will be participating providers for the hard-working men and women who serve the residents of New York every day.

The New York State Department of Civil Service administers the New York State Health Insurance Program, one of the largest public employer health insurance programs in the nation, serving more than 1.2 million lives.

Founded in Freeport in 1958, Neurological Surgery, P.C. (NSPC) has grown to become one of the largest, private neurosurgical groups in the U.S. with six conveniently located offices on Long Island.

The practices 20 experienced neurosurgeons are experts in Bloodless brain and spine surgery, including laser spine surgery, ultrasonic spine surgery, radiosurgery, and other advanced minimally invasive techniques which are used to treat brain tumors, brain aneurysms, trigeminal neuralgia, herniated disc, spinal stenosis, chronic back pain, and other conditions.

To learn more about Neurological Surgery, P.C. (NSPC), visit http://www.nspc.com. To make an appointment for a consultation with an NSPC doctor, please call 1-844-NSPC-DOC. 1991 Marcus Ave. Suite 108, Lake Success, NY 11042.

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Neurosurgeons announce participating providers in state's Empire Plan network - Community News - The Island Now

ClarkeHopkinsClarke’s biophilic design at the heart of new stroke unit – Architecture and Design

Several design features based on biophilic principles have been incorporated into the new Stroke and Neurology Unit at the Royal Melbourne Hospital to support patient recovery.

Stroke is one of Australias major causes of death and disability, which is why an exciting new treatment called Endovascular Clot Retrieval (ECR) offered exclusively at the Royal Melbourne Hospital, is making news with its ground-breaking impact on patient outcomes.

ECR is a time-critical, technically challenging, high-intervention rehabilitation treatment that starts within 24 hours of clot removal, restoring the patients blood flow and getting short-term, high-needs patients up and active early.

Designed by ClarkeHopkinsClarke Architects, Royal Melbourne Hospitals bespoke Stroke and Neurology Unit uses biophilic design features such as abundant natural light, soft curved forms, timber joinery and rug-like flooring, serene blue and warm grey seating upholstery and feature walls, and cosy nooks where staff, patients and visitors can interact and clinicians can observe incidental rehab activities or write up clinical notes.

According to project architect Nicholas Simmonds, the resulting calming, informal interior with elements of home naturally supports brain stimulation, physical activity and social connectivity.

The environment needs to strike just the right balance in terms of stimulation, says Simmonds. If a stroke patient is over-stimulated that can send them into stroke again.

Some of the design highlights of the new Stroke Unit include patient rooms located around the outside of the unit to capture natural light; previously decentralised rehabilitation services and new clinical and caregiver support facilities accomodated in a central hub; rooms and rehab linked by a wide circular walkway dubbed The Racetrack; and operable glazed walls and windows in High-Dependency Unit bedrooms switchable from clear to opaque when privacy is required.

The Racetrack is designed to create a light-filled, sociable space lined with deliberately non-clinical upholstered timber joinery seating. This space is very popular among staff, patients and visitors for all kinds of interactions, family visits and incidental rehabilitation.

The Racetrack gives staff clear sightlines and subtle wall - and floor-markers to help unobtrusively monitor patients progress, says ClarkeHopkinsClarke heath partner Justin Littlefield.

Initially a patient might get up from a room opposite and just walk across the corridor. Later they might take shortcuts through the middle - theres another seat on the opposite side of this central zone, so theres another 20 steps or so that gets them to the next spot. Eventually they might go for a whole loop of one of these ends, which all vary in distance. We actually had a lot of fun designing for these changing needs.

The design improves links to other departments, introduces teaching, training and research facilities that support patient care and staff development, and includes a higher proportion of single-bed patient rooms.

Commenting on the massive impact of the design on patient recovery, RMH director of Neurology and head of the new Stroke Unit Professor Mark Parsons says, Were seeing patient satisfaction surveys of over 90 percent each month, and more stroke patients being discharged directly home who would previously have had to go on to rehabilitation. For the same length of stay patients have a much better level of function than they did previously. Theyre able to go home and look after themselves rather than need further rehabilitation to get them to an independent level.

According to Parsons, higher patient satisfaction and better recovery outcomes are producing huge savings for the hospital and the broader community.

If you save one stroke patient from going to a nursing home youre saving the community around $200,000 in the first year and $100,000 thereafter.

Images: Rhiannon Slatter

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Oral Fenfluramine Is Promising Therapy for Children with… : Neurology Today – LWW Journals

Article In Brief

In a phase 3 trial, fenfluramine, which was withdrawn from the market in 1997 due to safety concerns about heart valve complications, was safe and effective for reducing seizures in children with Dravet syndrome. The study author and independent experts called for longer-term studies of the drug.

Children and adolescents with Dravet syndrome who took oral fenfluramine in addition to other antiepileptic drugs (AEDs) were 54 percent less likely to experience a seizure than those on placebo, according to a study in the December 2, 2019, online issue of JAMA Neurology.

In addition, the seizure-free period was longer in children on fenfluramine.

Dravet syndrome is a difficult-to-treat epilepsy disorder, so it's exciting to see that a handful of kids (five) were nearly seizure-free (with one seizure or less) during the 12-week maintenance period, the study investigator Kelly G. Knupp, MD, MSCS, FAES, associate professor of pediatrics and neurology at Children's Hospital Colorado at the University of Colorado in Denver told Neurology Today.

We were also pleased to see no adverse cardiac events, especially valvular heart disease and pulmonary hypertension, which were reasons fenfluramine was withdrawn from the market in 1997. This is similar to the Belgium experience, [an open label extension study], but I think that this will require careful monitoring in the future. If the cardiac findings are rare or time-dependent, there has not yet been enough patient exposure yet to identify them, said Dr. Knupp.

She noted that fenfluramine was originally approved as an appetite suppressant. Given that, we were not surprised that decreased appetite and weight-loss were the most common side-effect, said Dr. Knupp.

The Zogenix-funded phase 3 study confirms the findings from an earlier phase 3 trial of the drug in children with Dravet syndrome.

Zogenix submitted a new drug application to the US Food and Drug Administration (FDA) with the data from the two trials and an interim analysis from an ongoing open-label extension study.

In November 2019, the FDA announced that it granted the Zogenix application priority review with a six-month deadline. The federal agency has set a Prescription Drug User Fee Act target action date of March 25, 2020 for fenfluramine, according to a statement from the company.

Given these promising findings, we hope that fenfluramine will be available so we can treat more children and young people with Dravet syndrome, said Dr. Knupp.

An estimated 12,000 individuals in the United States have the syndrome associated with poorly-controlled frequent convulsive seizures, which increases their risk of disability and premature death, Dr. Knupp said.

The randomized, placebo-controlled study evaluated the safety and efficacy of twice-daily fenfluramine added to stiripentol, plus valproate or clobazam, in children diagnosed with Dravet syndrome.

The previous randomized, controlled study only examined fenfluramine because the researchers lacked pharmacokinetic data to evaluate dosage modifications needed to compensate for an expected fenfluramine-stiripentol drug interaction, according to the paper.

Patients with poorly controlled seizures on AED regimens were enrolled at approximately 28 sites in Canada, France, Germany, the Netherlands, Spain, the United Kingdom, and the United States.

Eighty-seven patients with a mean age of 9.1 years (ages 2 to 18) and a mean baseline frequency of about 25 convulsive seizures monthly were randomized to fenfluramine or placebo.

After a six-week randomization period to establish the baseline frequency of at least six convulsive seizures, the medication dose was titrated for three weeks from a starting dose of 0.2mg/kg daily in two equal doses to 0.4 mg/kg daily (with a maximum of 17 mg/kg daily). The dose was maintained for 12 weeks when the study ended. The total study period was 21 weeks.

The children receiving fenfluramine experienced a 54 percent reduction in their average monthly convulsive seizure frequency compared with the children on placebo during the 21-week trial.

Also, 54 percent (23 of 43) of patients on fenfluramine experienced a 50 percent or greater reduction in the average monthly convulsive seizure frequency compared with 5 percent (two of 44) on placebo. The fenfluramine group also had a median of 22 seizure-free days compared with a median of 13 seizure-free days in the placebo group.

The most common adverse events in the fenfluramine group were decreased appetite, fatigue, diarrhea, and pyrexia.

The main limitation of the study was its short duration. We don't know if these findings will hold up in two to five years, which is important given the drug was withdrawn for safety reasons in the 1990s, said Dr. Knupp.

In the meantime, many children from both phase 3 trials are continuing to take fenfluramine in an open-label trial that will shed further light on the drug's safety.

The most important finding is that in yet another study fenfluramine has demonstrated very potent antiseizure effects in children with Dravet syndrome. The novel finding is that this effect is also true for children already taking stiripentol, said Orrin Devinsky, MD, FAAN, professor of neurology, neurosurgery, and psychiatry at NYU Langone School of Medicine and director of NYU Langone's Comprehensive Epilepsy Center, in an email.

The study provides even more compelling evidence that fenfluramine is a very effective medication in this population, Dr. Devinsky said.

We have studied fenfluramine and have found it one of the most efficacious drugs we have ever used, he added.

Dr. Devinsky noted that the medication is safe; he pointed out that discontinuation rates of children were low, at less than 10 percent, due to their experiencing side-effects such as weight loss due to decreased appetite.

This is an exciting new possibility. I was surprised by how effective fenfluramine was in children who had failed any number of medications before. This is significant because frequent seizures are a strong risk factor for unexpected death in epilepsy, said David Gloss, MD, FAAN, chair of neurology at Charleston Area Medical Center in West Virginia, who was not involved in the study.

Dr. Gloss said the benefits of having the drug available to treat such a treatment-resistant condition as Dravet syndrome may outweigh the harms of possible side-effects.

We are always concerned about side-effects but I think most parents of children with this syndrome would be less concerned about weight-loss or fatigue than the frequency and risk of uncontrolled convulsive seizures. I am always transparent with parents about the side-effects and let them decide.

Dr. Gloss would like to see the FDA approve the drug. Based on the study results, I think that it's safe and effective enough for practitioners to start using. But, because of the small sample size, it's not clear yet whether it will be a gamechanger. I would like to see the results of a larger ideally longer study first.

Dr. Knupp has received research funding from the Pediatric Epilepsy Research Foundation, West Therapeutics, and Zogenix. She has received consulting fees from Zogenix, BioMarin, Biocodex, Stoke, Encoded, and fees for serving on the data safety monitoring board for GW Pharma. Dr. Devinsky receives grant support from NINDS, the National Institute of Mental Health, the Department of Defense Multidisciplinary University Research Initiative, Centers for Disease Control and Prevention, and National Science Foundation. He has equity and/or receives compensation from Privateer Holdings, Tilray, Receptor Life Sciences, Qstate Biosciences, Tevard, Empatica, Engage, Egg Rock/Papa & Barkley, Rettco, SilverSpike, and California Cannabis Enterprises. He has also received consulting fees from GW Pharma, Cavion and Zogenix. Dr. Gloss disclosed no competing interests.

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Oral Fenfluramine Is Promising Therapy for Children with... : Neurology Today - LWW Journals

Brain Diseases That Alter Language Abilities Vary by Native Tongue – Technology Networks

English and Italian speakers with dementia-related language impairment experience distinct kinds of speech and reading difficulties based on features of their native languages, according to new research by scientists at the UC San Francisco Memory and Aging Center and colleagues at the Neuroimaging Research Unit and Neurology Unit at the San Raffaele Scientific Institute in Milan.

Neurologists had long assumed that brain diseases that impact language abilities would manifest in essentially the same way in patients around the world. But recent discoveries have begun to question that assumption. For instance, Italian speakers with dyslexia tend to have less severe reading impairment than English or French speakers due to Italian's simpler and more phonetic spelling.

"Clinical criteria for diagnosing disorders that affect behavior and language are still mainly based on studies of English speakers and Western cultures, which could lead to misdiagnosis if people who speak different languages or come from another cultural background express symptoms differently," said study senior author Maria Luisa Gorno-Tempini, MD, PhD, a professor of neurology and psychiatry and the Charles Schwab Distinguished Professor in Dyslexia and Neurodevelopment at the UCSF Memory and Aging Center. "It is critical going forward that studies take language and cultural differences into account when studying brain disorders that affect higher cognitive functions -- which we know are greatly impacted by culture, environment, and experience."

The new study, published January 10, 2020 in Neurology, the medical journal of the American Academy of Neurology, focused on patients with primary progressive aphasia (PPA), a neurodegenerative disorder that affects language areas in the brain, a condition often associated with Alzheimer's disease, frontotemporal lobar degeneration, and other dementia disorders.

The researchers recruited 20 English-speaking PPA patients from the UCSF Memory and Aging Center and 18 Italian-speaking PPA patients from San Raffaele Hospital, all of whom shared a variant of PPA characterized by difficulty producing or pronouncing words -- so-called non-fluent PPA.

"We wanted to study patients with PPA to understand whether people from different language backgrounds actually experienced the disease differently, and what that might mean for how we try to help patients remain resilient to the disease," said study lead author Elisa Canu, PhD, a neuropsychologist and researcher in the San Raffaele Scientific Institute's Neuroimaging Research Unit, which is led by co-author Massimo Filippi, MD, full professor of neurology at the affiliated Vita-Salute San Raffaele University, and director of the neurology and neurophysiology units at the San Raffaele Hospital.

Cognitive tests and MRI brain scans revealed similar cognitive function and comparable levels of brain degeneration in the two groups. But when the researchers compared their performance on a battery of linguistic tests, they observed a key difference.

English speakers had more trouble pronouncing words -- the traditional hallmark of nonfluent PPA -- and tended to speak less than usual. In contrast, Italian speakers with the same disorder had fewer pronunciation difficulties but tended to produce much shorter and grammatically simpler sentences. For example, when asked to describe a drawing of a family at a lake house picnicking and flying a kite, Italian speakers with non-fluent PPA might respond (in Italian): "The man and the woman and the dog"; "Boat in the water"; "Family have picnic"; "There is a kite".

"We think this is specifically because the consonant clusters that are so common in English pose a challenge for a degenerating speech-planning system," said Gorno-Tempini, who directs the language neurobiology laboratory at the UCSF Memory and Aging Center, and is co-director of the UCSF Dyslexia Center and the recently launched UCSF-UC Berkeley Schwab Dyslexia and Cognitive Diversity Center. "In contrast, Italian is easier to pronounce, but has much more complex grammar, and this is how Italian speakers with PPA tend to run into trouble."

The results are important for efforts to ensure accurate diagnoses for patients with PPA across different cultures: in the current study the Italian speakers do not match the established diagnostic criteria for nonfluent PPA as closely as the English speakers, since the criteria are based on studies of English-speaking patients.

"This means that there are probably many people around the world -- including non-native English speakers in the U.S. -- who are not getting the right diagnosis because their symptoms don't match what is described in clinical manuals based on studies of native English speakers," said Gorno-Tempini.

The researchers acknowledge that this is a small study and cannot completely exclude the possibility that differences in dementia severity, undetected anatomical differences and differences in education level between Italian and English participants could be confounding factors in the results.

Future studies in partnership with the Global Brain Health Institute (GBHI), a joint effort of UCSF and Trinity College Dublin to reduce the impact of dementia around the world, will attempt to replicate the findings in larger groups of patients, and look for further differences between speakers of even more diverse, non-Western languages, such as Chinese and Arabic.

"We hope that such studies will advance our understanding of the brain science underlying language and language disorders, raise awareness of health disparities in dementia treatment, and ultimately improve care for all patients," Gorno-Tempini said.

Reference: Canu, E., Agosta, F., Battistella, G., Spinelli, E. G., DeLeon, J., Welch, A. E., Mandelli, M. L., Hubbard, H. I., Moro, A., Magnani, G., Cappa, S. F., Miller, B. L., Filippi, M., & Gorno-Tempini, M. L. (2020). Speech production differences in English and Italian speakers with nonfluent variant PPA. Neurology, 10.1212/WNL.0000000000008879. https://doi.org/10.1212/WNL.0000000000008879

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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WellSpan Neurology – Chambersburg | WellSpan Health

Have you ever seen a physician for this problem before? Yes No Please contact us at to schedule a visit. Please contact Thomas Hart Family Practice Center at (717) 851-2521 to discuss the EDS clinic. Have you been advised by your primary care physician to see a surgeon? Yes No Please contact us at to schedule a visit. Have you been advised by your primary care physician to see a neurosurgeon? Yes No Please contact us at to schedule a visit. Have you been advised by your primary care physician to see a neurologist? Yes No Is this related to a workers' compensation or automobile accident claim? Yes No Are you currently on pain medication or are you looking for a physician to help manage your pain medication? Yes No Please contact us at to schedule a visit. Are you scheduling a prenatal massage (currently pregnant) or is this related to a workers' compensation or automobile accident claim? Yes No Please contact us at to schedule a visit. Is the patient under 19 years old? Yes No Please contact us at to schedule a visit.

Pediatric medicine practices treat children from newborns to age 18. Pediatric medicine services include newborn visits, well-baby and well-child care, sick/injury care, immunizations and physicals.

Signs include: difficulty breathing, tongue or lip swelling, chest pain, vomiting.

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