Avaliação da ataxia


Principais artigos

Corben LA, Lynch D, Pandolfo M, et al; Clinical Management Guidelines Writing Group. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis. 2014 Nov 30;9:184.Texto completo  Resumo

Subramony SH, Genetics of inherited ataxias. Continuum. 2005;11:115-42.

Shakkottai VG, Fogel BL. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. Neurol Clin. 2013 Nov;31(4):987-1007.Texto completo  Resumo

Biancalana V, Glaeser D, McQuaid S, et al. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders. Eur J Hum Genet. 2015 Apr;23(4):417-25.Texto completo  Resumo

Manto M-U. Clinical signs of cerebellar disorders. In: Manto M-U, Pandolfo M, eds. The cerebellum and its disorders. Cambridge, UK: Cambridge University Press; 2002:97-120.

Artigos de referência

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12. Pedroso JL, Vale TC, Gama MTD, et al. Cerebellar degeneration and progressive ataxia associated with HIV-virus infection. Parkinsonism Relat Disord. 2018 Sep;54:95-8. Resumo

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14. Matthews BR, Jones LK, Saad DA, et al. Cerebellar ataxia and central nervous system Whipple disease. Arch Neurol. 2005 Apr;62(4):618-20.Texto completo  Resumo

15. Tatu L, Bogousslavsky J. Tabes dorsalis in the 19th century. The golden age of progressive locomotor ataxia. Rev Neurol (Paris). 2021 Apr;177(4):376-384.Texto completo  Resumo

16. Prasad KSV, Ravi D, Pallikonda V, et al. Clinicopathological Study of Pediatric Posterior Fossa Tumors. J Pediatr Neurosci. 2017 Jul-Sep;12(3):245-250.Texto completo  Resumo

17. Saiz A, Blanco Y, Sabater L, et al. Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association. Brain. 2008 Oct;131(Pt 10):2553-63.Texto completo  Resumo

18. Hadjivassiliou M, Grunewald R, Sharrack B, et al. Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics. Brain. 2003 Mar;126(Pt 3):685-91.Texto completo  Resumo

19. Hunt A, Harrington D, Robinson S. Vitamin B12 deficiency. BMJ. 2014 Sep 4;349:g5226.Texto completo  Resumo

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24. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007 Mar;6(3):245-57. Resumo

25. Soong BW, Paulson HL. Spinocerebellar ataxias: an update. Curr Opin Neurol. 2007 Aug;20(4):438-46. Resumo

26. Jen JC. Hereditary episodic ataxias. Ann NY Acad Sci. 2008 Oct;1142:250-3. Resumo

27. Corben LA, Lynch D, Pandolfo M, et al; Clinical Management Guidelines Writing Group. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis. 2014 Nov 30;9:184.Texto completo  Resumo

28. Bourke T, Keane D. Friedreich's Ataxia: a review from a cardiology perspective. Ir J Med Sci. 2011 Dec;180(4):799-805. Resumo

29. Cortese A, Tozza S, Yau WY, et al. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain. 2020 Feb 1;143(2):480-490.Texto completo  Resumo

30. Subramony SH, Genetics of inherited ataxias. Continuum. 2005;11:115-42.

31. Newrick L, Sharrack N, Hadjivassiliou M. Late-onset ataxia telangiectasia. Neurol Clin Pract. 2014 Aug;4(4):365-367.Texto completo  Resumo

32. Pfeffer G, Pyle A, Griffin H, et al. SPG7 mutations are a common cause of undiagnosed ataxia. Neurology. 2015 Mar 17;84(11):1174-6.Texto completo  Resumo

33. Onodera O. Spinocerebellar ataxia with ocular motor apraxia and DNA repair. Neuropathology. 2006 Aug;26(4):361-7.Texto completo  Resumo

34. Onodera O. Spinocerebellar ataxia with ocular motor apraxia and DNA repair. Neuropathology. 2006 Aug;26(4):361-7. Resumo

35. Le Ber I, Bouslam N, Rivaud-Pechoux S, et al. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain. 2004 Apr;127(Pt 4):759-67.Texto completo  Resumo

36. Triantafillidis JK, Kottaras G, Sgourous S, et al. A-beta-lipoproteinemia: clinical and laboratory features, therapeutic manipulations, and follow-up study of three members of a Greek family. J Clin Gastroenterol. 1998 Apr;26(3):207-11. Resumo

37. Schmidt WM, Rutledge SL, Schule R, et al. Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia. Am J Hum Genet. 2015 Dec 3;97(6):855-61. Resumo

38. Patterson MC, Clayton P, Gissen P, et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. Neurol Clin Pract. 2017 Dec;7(6):499-511.Texto completo  Resumo

39. Geberhiwot T, Moro A, Dardis A, et al. Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018 Apr 6;13(1):50.Texto completo  Resumo

40. Evans WR, Hendriksz CJ. Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment. BJPsych Bull. 2017 Apr;41(2):109-114.Texto completo  Resumo

41. Bird TD. Hereditary ataxia overview. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Seattle, WA: University of Washington; 2016.Texto completo  Resumo

42. Sun YM, Lu C, Wu ZY. Spinocerebellar ataxia: relationship between phenotype and genotype - a review. Clin Genet. 2016 Oct;90(4):305-14. Resumo

43. Shakkottai VG, Fogel BL. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. Neurol Clin. 2013 Nov;31(4):987-1007.Texto completo  Resumo

44. Donato SD, Mariotti C, Taroni F. Spinocerebellar ataxia type 1. Handb Clin Neurol. 2012;103:399-421.Texto completo  Resumo

45. Fernandez M, McClain ME, Martinez RA, et al. Late-onset SCA2: 33 CAG repeats are sufficient to cause disease. Neurology. 2000 Aug 22;55(4):569-72. Resumo

46. Babovic-Vuksanovic D, Snow K, Patterson MC, et al. Spinocerebellar ataxia type 2 (SCA2) in an infant with extreme CAG repeat expansion. Am J Med Genet. 1998 Oct 12;79(5):383-7. Resumo

47. Coarelli G, Brice A, Durr A. Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view. F1000Res. 2018;7:.Texto completo  Resumo

48. Carvalho AL, Silva A, Macedo-Ribeiro S. Polyglutamine-Independent Features in Ataxin-3 Aggregation and Pathogenesis of Machado-Joseph Disease. Adv Exp Med Biol. 2018;1049:275-288.Texto completo  Resumo

49. Sullivan R, Yau WY, O'Connor E, et al. Spinocerebellar ataxia: an update. J Neurol. 2019 Feb;266(2):533-544.Texto completo  Resumo

50. Flanigan K, Gardner K, Alderson K, et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet. 1996 Aug;59(2):392-9.Texto completo  Resumo

51. Fujioka S, Sundal C, Wszolek ZK. Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis. 2013 Jan 18;8:14.Texto completo  Resumo

52. Ranum LP, Schut LJ, Lundgren JK, et al. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet. 1994 Nov;8(3):280-4.Texto completo  Resumo

53. Gomez CM, Thompson RM, Gammack JT, et al. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol. 1997 Dec;42(6):933-50. Resumo

54. Ophoff RA, Terwindt GM, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type 2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996 Nov 1;87(3):543-52.Texto completo  Resumo

55. Guyenet SJ, Mookerjee SS, Lin A, et al. Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction. Hum Mol Genet. 2015 Jul 15;24(14):3908-17.Texto completo  Resumo

56. Perlam SL. Evaluation and Management of ataxic disorders. An overview for Physicians. 1st ed. Minniapolis, MN: National Ataxia Foundation; 2016.Texto completo

57. Ikeda Y, Daughters RS, Ranum LP. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum. 2008;7(2):150-8. Resumo

58. Silveira I, Alonso I, Guimarães L, et al. High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet. 2000 Mar;66(3):830-40.Texto completo  Resumo

59. Goel D, Suroliya V, Shamim U, et al. Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population. eNeurologicalSci. 2019 Dec;17:100211.Texto completo  Resumo

60. Choudhury S, Chatterjee S, Chatterjee K, et al. Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India. Mov Disord Clin Pract. 2018 Jan-Feb;5(1):39-46.Texto completo  Resumo

61. Zhang Y, Kaczmarek LK. Kv3.3 potassium channels and spinocerebellar ataxia. J Physiol. 2016 Aug 15;594(16):4677-84.Texto completo  Resumo

62. Wong MMK, Hoekstra SD, Vowles J, et al. Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation. Acta Neuropathol Commun. 2018 Sep 24;6(1):99.Texto completo  Resumo

63. Miyoshi Y, Yamada T, Tanimura M, et al. A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology. 2001 Jul 10;57(1):96-100. Resumo

64. Miura S, Shibata H, Furuya H, et al. The contactin 4 gene locus at 3p26 is a candidate gene of SCA16. Neurology. 2006 Oct 10;67(7):1236-41. Resumo

65. Yang S, Li XJ, Li S. Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis. Rare Dis. 2016;4(1):e1223580.Texto completo  Resumo

66. Lin P, Zhang D, Xu G, et al. Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia. J Hum Genet. 2018 Apr;63(4):521-524.Texto completo  Resumo

67. Chung MY, Lu YC, Cheng NC, et al. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain. 2003 Jun;126(Pt 6):1293-9.Texto completo  Resumo

68. Verbeek DS, Schelhaas JH, Ippel EF, et al. Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum Genet. 2002 Oct;111(4-5):388-93. Resumo

69. Schelhaas HJ, Ippel PF, Hageman G, et al. Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. J Neurol. 2001 Feb;248(2):113-20. Resumo

70. Duarri A, Jezierska J, Fokkens M, et al. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol. 2012 Dec;72(6):870-80. Resumo

71. Storey E, Gardner RJ. Spinocerebellar ataxia type 20. Handb Clin Neurol. 2012;103:567-73.Texto completo  Resumo

72. Burdekin ED, Fogel BL, Jeste SS, et al. The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240). J Child Neurol. 2020 Dec;35(14):953-962.Texto completo  Resumo

73. Traschütz A, van Gaalen J, Oosterloo M, et al. The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature. Parkinsonism Relat Disord. 2019 May;62:215-220.Texto completo  Resumo

74. Bakalkin G, Watanabe H, Jezierska J, et al. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. Am J Hum Genet. 2010 Nov 12;87(5):593-603.Texto completo  Resumo

75. Whaley NR, Fujioka S, Wszolek ZK. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis. 2011 May 28;6:33.Texto completo  Resumo

76. Hekman KE, Yu GY, Brown CD, et al. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet. 2012 Dec 15;21(26):5472-83.Texto completo  Resumo

77. Groth CL, Berman BD. Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype. Tremor Other Hyperkinet Mov (N Y). 2018;8:534.Texto completo  Resumo

78. Di Bella D, Lazzaro F, Brusco A, et al. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet. 2010 Apr;42(4):313-21. Resumo

79. Synofzik M, Helbig KL, Harmuth F, et al. De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. Eur J Hum Genet. 2018 Nov;26(11):1623-1634.Texto completo  Resumo

80. Das J, Lilleker J, Shereef H, et al. Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review. Neurol Neurochir Pol. 2017 Nov - Dec;51(6):497-500.Texto completo  Resumo

81. Storey E, Bahlo M, Fahey M, et al. A new dominantly inherited pure cerebellar ataxia, SCA 30. J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):408-11.Texto completo  Resumo

82. Ishikawa K, Sato N, Nimi Y, et al. Spinocerebellar ataxia type 31. Rinsho Shinkeigaku. 2010 Nov;50(11):985-7. Resumo

83. Teive HAG, Meira AT, Camargo CHF, et al. The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review. Mov Disord Clin Pract. 2019 Sep;6(7):531-540.Texto completo  Resumo

84. Seidel K, Siswanto S, Brunt ER, et al. Brain pathology of spinocerebellar ataxias. Acta Neuropathol. 2012 Jul;124(1):1-21.Texto completo  Resumo

85. Ikeda Y, Ohta Y, Kobayashi H, et al. Clinical features of SCA36: a novel spinocerebellar ataxia with motor neuron involvement (Asidan). Neurology. 2012 Jul 24;79(4):333-41. Resumo

86. Borroni B, Di Gregorio E, Orsi L, et al. Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38). Parkinsonism Relat Disord. 2016 Jul;28:80-6.Texto completo  Resumo

87. OMIM. Spinocerebellar Ataxia 41; SCA41. June 2015 [internet publication]Texto completo

88. Ngo K, Aker M, Petty LE, et al. Expanding the global prevalence of spinocerebellar ataxia type 42. Neurol Genet. 2018 Jun;4(3):e232.Texto completo  Resumo

89. Depondt C, Donatello S, Rai M, et al. MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). Neurol Genet. 2016 Oct;2(5):e94.Texto completo  Resumo

90. Watson LM, Bamber E, Schnekenberg RP, et al. Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. Am J Hum Genet. 2017 Sep 7;101(3):451-458.Texto completo  Resumo

91. Rafehi H, Szmulewicz DJ, Bennett MF, et al. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. Am J Hum Genet. 2019 Jul 3;105(1):151-165.Texto completo  Resumo

92. OMIM. Fat Atypical Cadherin 2; Fat2. September 2019 [internet publication]Texto completo

93. OMIM. Spinocerebellar Ataxia 46; SCA46. November 2017 [internet publication]Texto completo

94. OMIM. Spinocerebellar Ataxia 47; SCA47. May 2018 [internet publication]Texto completo

95. De Michele G, Galatolo D, Barghigiani M, et al. Spinocerebellar ataxia type 48: last but not least. Neurol Sci. 2020 Sep;41(9):2423-2432.Texto completo  Resumo

96. Carroll LS, Massey TH, Wardle M, et al. Dentatorubral-pallidoluysian Atrophy: An Update. Tremor Other Hyperkinet Mov (N Y). 2018;8:577.Texto completo  Resumo

97. Bailey CS, Moldenhauer HJ, Park SM, et al. <i>KCNMA1</i>-linked channelopathy. J Gen Physiol. 2019 Oct 7;151(10):1173-1189.Texto completo  Resumo

98. Mochel F, Rastetter A, Ceulemans B, et al. Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 Dec 1;143(12):3564-3573.Texto completo  Resumo

99. González Sánchez M, Izquierdo S, Álvarez S, et al. Clinical manifestations of episodic ataxia type 5. Neurol Clin Pract. 2019 Dec;9(6):503-504.Texto completo  Resumo

100. Chivukula AS, Suslova M, Kortzak D, et al. Functional consequences of SLC1A3 mutations associated with episodic ataxia 6. Hum Mutat. 2020 Nov;41(11):1892-1905.Texto completo  Resumo

101. Biancalana V, Glaeser D, McQuaid S, et al. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders. Eur J Hum Genet. 2015 Apr;23(4):417-25.Texto completo  Resumo

102. Apartis E, Blancher A, Meissner WG, et al. FXTAS: New insights and the need for revised diagnostic criteria. Neurology. 2012 Oct 30;79(18):1898-907. Resumo

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104. Berciano J, Boesch S, Perez-Ramos JM, et al. Olivopontocerebellar atrophy: toward a better nosological definition. Mov Disord. 2006 Oct;21(10):1607-13. Resumo

105. National Institute for Health and Care Excellence. Stroke and transient ischaemic attack in over 16s: diagnosis and initial management. April 2022 [internet publication].Texto completo

106. Manto M-U. Clinical signs of cerebellar disorders. In: Manto M-U, Pandolfo M, eds. The cerebellum and its disorders. Cambridge, UK: Cambridge University Press; 2002:97-120.

107. Beaudin M, Matilla-Dueñas A, Soong BW, et al. The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force. Cerebellum. 2019 Dec;18(6):1098-1125.Texto completo  Resumo

108. Expert Panel on Neurologic Imaging:., Salmela MB, Mortazavi S, et al. ACR Appropriateness Criteria®. Cerebrovascular disease. J Am Coll Radiol. 2017 May;14(5s):S34-S61.Texto completo  Resumo

109. Expert Panel on Neurologic Imaging:., Juliano AF, Policeni B, et al. ACR Appropriateness Criteria®. Ataxia. J Am Coll Radiol. 2019 May;16(5s):S44-S56.Texto completo  Resumo

110. American College of Radiology. ACR Appropriateness Criteria®. Ataxia - child. 2022 [internet publication].Texto completo

111. Fogel BL, Lee H, Deignan JL, et al. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol. 2014 Oct;71(10):1237-46. Resumo

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