Assessment of ataxia

References

Key articles

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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.

Reference articles

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

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

44. Donato SD, Mariotti C, Taroni F. Spinocerebellar ataxia type 1. Handb Clin Neurol. 2012;103:399-421.Full text  Abstract

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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.Full text  Abstract

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

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

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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. Abstract

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

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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. Abstract

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. Abstract

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. Abstract

71. Storey E, Gardner RJ. Spinocerebellar ataxia type 20. Handb Clin Neurol. 2012;103:567-73.Full text  Abstract

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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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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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.Full text  Abstract

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

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

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. Abstract

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.Full text  Abstract

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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.Full text  Abstract

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.Full text  Abstract

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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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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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.Full text  Abstract

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