{"id":1065845,"date":"2015-06-22T22:41:49","date_gmt":"2015-06-23T02:41:49","guid":{"rendered":"https:\/\/www.immortalitymedicine.tv\/longevity-medicine\/ataxia-recessive-neuromuscular-home-page.php"},"modified":"2024-08-18T11:16:17","modified_gmt":"2024-08-18T15:16:17","slug":"ataxia-recessive-neuromuscular-home-page","status":"publish","type":"post","link":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/ataxia\/ataxia-recessive-neuromuscular-home-page.php","title":{"rendered":"Ataxia: Recessive – Neuromuscular Home Page"},"content":{"rendered":"

Home, Search, Index, Links, Pathology, Molecules, Syndromes, Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info <\/p>\n

Myelinated nerve fibers in the retina <\/p>\n

Types: Usually recessive 1: INPP5E; 9q34 2: TMEM216; 11q12 3: AHI1; 6q23 4: NPHP1; 2q13 5: CEP290; 12q21 6: TMEM67; 8q22 7: RPGRIP1L; 16q12 8: ARL13B; 3q11 9: CC2D2A; 4p15 10: OFD1 (CXORF5); Xp22 11: TTC21B; 2q24; Dominant 12: KIF7; 15q26 13: TCTN1; 12q24 14: TMEM237; 2q33 15: CEP41; 7q32 15A: TCTN2; 12q24 16: TMEM138; 11q12 17: c5orf42; 5p13 18: TCTN3; 10q24 19: ZNF423; 16q12 20: TMEM231; 16q23 21: CSPP1; 8q13 22: PDE6D; 2q37 Joubert: EXOC8; 1q42 COACH syndromes CC2D2A; 4p15 TMEM67; 8q22 Nephronophthisis ATXN10; 22q13.31<\/p>\n

Molar Tooth Sign <\/p>\n

Metabolic ataxias <\/p>\n

References 1. Neurology 2001;56:849-855, Neurology 2003;60:12061208, Neurology 2004;62:818820, Neurology 2007;68:295-297 2. J Med Genet 2000;37:1-8, Pediatr Neurol 2003;28:335-341, J Neurol 2009;256 (Supp 1):3-8 3. Neurology 2000;54:1408-1414, Arch Neurol 2003;60:982-988 4. Am J Med Genet 2000;92:53-56 5. Med Genet 1999;36:759-766 6. Neurology. 2000;55:99-104. 7. Nature Genetics 2000;26:93-96 8. Am J Hum Genet 2000;67:1320-1326, Nature Genetics 2004; March 9. Am J Hum Genet 2001;68:501-508, Arch Neurol 2001;58:173-174, Hum Mol Genet 2004 Online March 10. Neurology 2001;57:1412-1414 11. Neurogenetics 2001;3:127-132 12. Neurology 2001;57:1043-1049 13. Heart 2002;87:346-349 14. Neurology 2001;57:127-130, Brain 2002;125:1760-1771, Am J Hum Genet 2003;72:869878 15. J Clin Endocrinol Metab, April 2002:87:16071612, Pediatr Neurol 2010;42:359-364, N Engl J Med 2013;368:1992-2003 16. Am J Ophthalmol 2002:133:410-413 17. Brain 2003;126 August, J Med Genet 2003;40:441446 18. Neurology 2003;61:274-275 19. Am J Hum Genet 2003; Online August 20. Nature Genet 2003; Online October 21. Brain 2006; On-line May 3, PLoS Biol 2012;10:e1001288 22. Nature Genet 2004; Online August 23. Nature Genet 2004; Online September 24. Nature Genet 2004; Online November 25. Neurology 2005;64:142144 26. Ann Neurol 2005;57:513519 27. Paediatr Anaesth 2005;15:433-434 28. Ann Neurol 2005 Jul 26 29. Hum Mol Genet 2005; Online Aug 30. Nature Genetics 2005; Online Nov 13 31. J Hum Genet 2006; Jul 11 32. Nat Genet 2006 Dec 10 33. Nat Genet 2007;39:534-539 34. Brain 2007; Online April Brain 2013; Online December 35. Neurology 2004;62:818-820 36. Nature Genetics 2007; Online June A; B 37. Am J Human Genet 2007; Online July 38. Am J Med Genet A 2008 Feb 1 39. Am J Human Genet 2008;82:623630, 2008;82:661672 40. Am J Med Genet Part A 143A:22562260 41. Am J Human Genet 2008; Online Aug 42. Nature Genet 2008; Online August 43. Nature Genet 2007;39:454-456 44. Nat Genet 2008 Aug 17 45. Am J Hum Genet 2008 Oct 22 46. American Journal of Human Genetics 2008; November 47. Hum Mutat 2008 Dec 4 48. American Journal of Medical Genetics 2009 Jan 21 49. Proc Natl Acad Sci U S A 2009 Mar 16, NEJM 2009;360:1960-1970 50. PLoS Genet 2009 May;5(5):e1000487 51. Nature Genet 2009; Online August 52. Semin Pediatr Neurol 2009;16:143154 53. American Journal of Human Genetics 2009; October 54. Am J Hum Genet 2009; Online Dec 55. Ann Neurol 2010;68:259-263 56. Neurogenetics 2010; Online July, Am J Human Genet 2011;89-415-423 57. Am J Hum Genet 2010; Online Nov 58. Nature Genetics 2011; On Line January 59. Am J Human Genetics 2011; Online May, Brain 2013 Feb 28 60. Am J Human Genetics 2011;89:320327 61. Cell 2011;145:513-528 62. Human Mutation 2011; Online November 63. Am J Human Genet 2011;89:713-730 64. Nature Genetics 2012: Online Jan 65. European Journal of Human Genetics 2012; On line Jan 66. Am J Human Genet 2012; Online March 67. Arch Neurol 2012; Online Mar 68. J Neurol 2012 May 26 69. Eur J Hum Genet 2012 Aug 15, Plos Genet 2012;8:e1002853 70. Am J Human Genet 2012; Online August 71. Nature Genetics 2012; Online September 72. J Child Neurology 2013; Online April 73. Cerebellum 2013; Online June 74. European Journal of Human Genetics 2013; Online July 75. Cerebellum 2013; Online October 76. Muscle Nerve 2013; Online October 77. PLoS One 2013 Dec 2;8(12):e81884, Hum Mol Genet 2013 Oct 16 78. Brain 2013; Online December 79. Neurology 2014;82: Online February 80. Nature Genetics 2014; Online March 81. Cerebellum 2014;13:79-88, Am J Human Genet 2014; Online August 82. J Neurol 2014;261:21922198 83. Am J Human Genet 2014; Online Nov 84. Am J Human Genet 2015; Online Feb 85. Brain 2015; Online March 86. Brain 2015 Jun 11 <\/p>\n

6\/18\/2015<\/p>\n

<\/p>\n

Read more:
\nAtaxia: Recessive - Neuromuscular Home Page<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Home, Search, Index, Links, Pathology, Molecules, Syndromes, Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info Myelinated nerve fibers in the retina Types: Usually recessive 1: INPP5E; 9q34 2: TMEM216; 11q12 3: AHI1; 6q23 4: NPHP1; 2q13 5: CEP290; 12q21 6: TMEM67; 8q22 7: RPGRIP1L; 16q12 8: ARL13B; 3q11 9: CC2D2A; 4p15 10: OFD1 (CXORF5); Xp22 11: TTC21B; 2q24; Dominant 12: KIF7; 15q26 13: TCTN1; 12q24 14: TMEM237; 2q33 15: CEP41; 7q32 15A: TCTN2; 12q24 16: TMEM138; 11q12 17: c5orf42; 5p13 18: TCTN3; 10q24 19: ZNF423; 16q12 20: TMEM231; 16q23 21: CSPP1; 8q13 22: PDE6D; 2q37 Joubert: EXOC8; 1q42 COACH syndromes CC2D2A; 4p15 TMEM67; 8q22 Nephronophthisis ATXN10; 22q13.31 Molar Tooth Sign Metabolic ataxias References 1. Neurology 2001;56:849-855, Neurology 2003;60:12061208, Neurology 2004;62:818820, Neurology 2007;68:295-297 2. J Med Genet 2000;37:1-8, Pediatr Neurol 2003;28:335-341, J Neurol 2009;256 (Supp 1):3-8 3. Neurology 2000;54:1408-1414, Arch Neurol 2003;60:982-988 4. Am J Med Genet 2000;92:53-56 5. Med Genet 1999;36:759-766 6. Neurology. 2000;55:99-104. 7. Nature Genetics 2000;26:93-96 8. Am J Hum Genet 2000;67:1320-1326, Nature Genetics 2004; March 9. Am J Hum Genet 2001;68:501-508, Arch Neurol 2001;58:173-174, Hum Mol Genet 2004 Online March 10. Neurology 2001;57:1412-1414 11. Neurogenetics 2001;3:127-132 12. Neurology 2001;57:1043-1049 13. Heart 2002;87:346-349 14. Neurology 2001;57:127-130, Brain 2002;125:1760-1771, Am J Hum Genet 2003;72:869878 15. J Clin Endocrinol Metab, April 2002:87:16071612, Pediatr Neurol 2010;42:359-364, N Engl J Med 2013;368:1992-2003 16. Am J Ophthalmol 2002:133:410-413 17. Brain 2003;126 August, J Med Genet 2003;40:441446 18. Neurology 2003;61:274-275 19. Am J Hum Genet 2003; Online August 20. Nature Genet 2003; Online October 21. Brain 2006; On-line May 3, PLoS Biol 2012;10:e1001288 22. Nature Genet 2004; Online August 23. Nature Genet 2004; Online September 24. Nature Genet 2004; Online November 25. Neurology 2005;64:142144 26. Ann Neurol 2005;57:513519 27. Paediatr Anaesth 2005;15:433-434 28. Ann Neurol 2005 Jul 26 29. Hum Mol Genet 2005; Online Aug 30. Nature Genetics 2005; Online Nov 13 31. J Hum Genet 2006; Jul 11 32. Nat Genet 2006 Dec 10 33. Nat Genet 2007;39:534-539 34. Brain 2007; Online April Brain 2013; Online December 35. Neurology 2004;62:818-820 36. Nature Genetics 2007; Online June A; B 37. Am J Human Genet 2007; Online July 38. Am J Med Genet A 2008 Feb 1 39. Am J Human Genet 2008;82:623630, 2008;82:661672 40. Am J Med Genet Part A 143A:22562260 41. Am J Human Genet 2008; Online Aug 42. Nature Genet 2008; Online August 43. Nature Genet 2007;39:454-456 44. Nat Genet 2008 Aug 17 45. Am J Hum Genet 2008 Oct 22 46. American Journal of Human Genetics 2008; November 47. Hum Mutat 2008 Dec 4 48. American Journal of Medical Genetics 2009 Jan 21 49. Proc Natl Acad Sci U S A 2009 Mar 16, NEJM 2009;360:1960-1970 50. PLoS Genet 2009 May;5(5):e1000487 51. Nature Genet 2009; Online August 52. Semin Pediatr Neurol 2009;16:143154 53. American Journal of Human Genetics 2009; October 54. Am J Hum Genet 2009; Online Dec 55. Ann Neurol 2010;68:259-263 56. Neurogenetics 2010; Online July, Am J Human Genet 2011;89-415-423 57. Am J Hum Genet 2010; Online Nov 58. Nature Genetics 2011; On Line January 59. Am J Human Genetics 2011; Online May, Brain 2013 Feb 28 60. Am J Human Genetics 2011;89:320327 61. Cell 2011;145:513-528 62. Human Mutation 2011; Online November 63. Am J Human Genet 2011;89:713-730 64. Nature Genetics 2012: Online Jan 65. European Journal of Human Genetics 2012; On line Jan 66. Am J Human Genet 2012; Online March 67. Arch Neurol 2012; Online Mar 68. J Neurol 2012 May 26 69. Eur J Hum Genet 2012 Aug 15, Plos Genet 2012;8:e1002853 70. Am J Human Genet 2012; Online August 71. Nature Genetics 2012; Online September 72. J Child Neurology 2013; Online April 73. Cerebellum 2013; Online June 74. European Journal of Human Genetics 2013; Online July 75. Cerebellum 2013; Online October 76. Muscle Nerve 2013; Online October 77. PLoS One 2013 Dec 2;8(12):e81884, Hum Mol Genet 2013 Oct 16 78. Brain 2013; Online December 79. Neurology 2014;82: Online February 80. Nature Genetics 2014; Online March 81. Cerebellum 2014;13:79-88, Am J Human Genet 2014; Online August 82. J Neurol 2014;261:21922198 83. Am J Human Genet 2014; Online Nov 84. Am J Human Genet 2015; Online Feb 85. Brain 2015; Online March 86. Brain 2015 Jun 11 6\/18\/2015 Continue reading →<\/span><\/a><\/p>\n","protected":false},"author":64,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"limit_modified_date":"","last_modified_date":"","_lmt_disableupdate":"","_lmt_disable":"","footnotes":""},"categories":[1246881],"tags":[],"class_list":["post-1065845","post","type-post","status-publish","format-standard","hentry","category-ataxia"],"modified_by":null,"_links":{"self":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/posts\/1065845"}],"collection":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/users\/64"}],"replies":[{"embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/comments?post=1065845"}],"version-history":[{"count":0,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/posts\/1065845\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/media?parent=1065845"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/categories?post=1065845"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/tags?post=1065845"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}