Avaliação da ataxia

Referências

Principais artigos

Friedreich’s Ataxia Research Alliance. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. Nov 2022 [internet publication].Texto completo  Resumo

Ataxia UK. Management of the ataxias - towards best clinical practice (third edition). Jul 2016 [internet publication].Texto completo

American College of Radiology. ACR appropriateness criteria: dizziness and ataxia. 2023 [internet publication].Texto completo

American College of Radiology. ACR appropriateness criteria: ataxia - child. 2022 [internet publication].Texto completo

Artigos de referência

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28. Friedreich’s Ataxia Research Alliance. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. Nov 2022 [internet publication].Texto completo  Resumo

29. de Silva R, Greenfield J, Cook A, et al. Guidelines on the diagnosis and management of the progressive ataxias. Orphanet J Rare Dis. 2019 Feb 20;14(1):51.Texto completo  Resumo

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35. 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

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52. 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

53. 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

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55. 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

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57. 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

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

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

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61. 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

62. 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

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

64. 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

65. 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

66. 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

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

68. 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

69. 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

70. 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

71. 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

72. 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

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

74. 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

75. 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

76. 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

77. 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

78. 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

79. 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

80. 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

81. 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

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

87. 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

88. 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

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90. 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

91. 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

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

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109. 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

110. American College of Radiology. ACR appropriateness criteria: cerebrovascular diseases - stroke and stroke-related conditions. 2023 [internet publication].Texto completo

111. American College of Radiology. ACR appropriateness criteria: dizziness and ataxia. 2023 [internet publication].Texto completo

112. American College of Radiology. ACR appropriateness criteria: ataxia - child. 2022 [internet publication].Texto completo

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

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