Assessment of ataxia


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

1. Polo JM, Calleja J, Combarros O, et al. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain. 1991 Apr;114 (Pt 2):855-66. Abstract

2. Leone M, Bottachi E, D'Alessandro G, et al. Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: a study of prevalence and disability. Acta Neurol Scand. 1995 Mar;91(3):183-7. Abstract

3. Muzaimi MB, Thomas J, Palmer-Smith S, et al. Population based study of late onset cerebellar ataxia in south east Wales. J. Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1129-34.Full text  Abstract

4. Ruano L, Melo C, Silva MC, et al. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014;42(3):174-83.Full text  Abstract

5. Schöls L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004 May;3(5):291-304. Abstract

6. Akbar U, Ashizawa T. Ataxia. Neurol Clin. 2015 Feb;33(1):225-48.Full text  Abstract

7. Sirven JI, Fife TD, Wingerchuk DM, et al. Second-generation antiepileptic drugs' impact on balance: a meta-analysis. Mayo Clin Proc. 2007 Jan;82(1):40-7. Abstract

8. McCarty EC, Mencio GA, Walker LA, et al. Ketamine sedation for the reduction of children's fractures in the emergency department. J Bone Joint Surg Am. 2000 Jul;82-A(7):912-8. Abstract

9. Connolly AM, Dodson WE, Prensky AL, et al. Course and outcome of acute cerebellar ataxia. Ann Neurol. 1994 Jun;35(6):673-9. Abstract

10. Sawaishi Y, Takada G. Acute cerebellitis. Cerebellum. 2002 Jul;1(3):223-8. Abstract

11. Tagliati M, Simpson D, Morgello S, et al. Cerebellar degeneration associated with human immuno-deficiency virus infection. Neurology. 1998 Jan;50(1):244-51. Abstract

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. Abstract

13. Knight RS, Will RG. Prion diseases. J. Neurol Neurosurg Psychiatry. 2004 Mar;75 Suppl 1:i36-42.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

19. Hunt A, Harrington D, Robinson S. Vitamin B12 deficiency. BMJ. 2014 Sep 4;349:g5226.Full text  Abstract

20. Sukumar N, Saravanan P. Investigating vitamin B12 deficiency. BMJ. 2019 May 10;365:l1865.Full text  Abstract

21. Dhir S, Tarasenko M, Napoli E, et al. Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults. Front Psychiatry. 2019;10:207.Full text  Abstract

22. Sokol RJ. Vitamin E and neurologic deficits. Adv Pediatr. 1990;37:119-48. Abstract

23. Kuntzer T, Antoine JC, Steck AJ. Clinical features and pathophysiological basis of sensory neuronopathies (ganglionopathies). Muscle Nerve. 2004 Sep;30(3):255-68. Abstract

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

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

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

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.Full text  Abstract

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

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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

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

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.Full text  Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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

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

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. Abstract

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. Abstract

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

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.Full text  Abstract

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

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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.Full text  Abstract

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

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

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

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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

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.Full text  Abstract

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. Abstract

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

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.Full text  Abstract

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.Full text  Abstract

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

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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

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.Full text  Abstract

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.Full text  Abstract

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

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.Full text  Abstract

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

87. OMIM. Spinocerebellar Ataxia 41; SCA41. June 2015 [internet publication]Full text

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.Full text  Abstract

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

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.Full text  Abstract

92. OMIM. Fat Atypical Cadherin 2; Fat2. September 2019 [internet publication]Full text

93. OMIM. Spinocerebellar Ataxia 46; SCA46. November 2017 [internet publication]Full text

94. OMIM. Spinocerebellar Ataxia 47; SCA47. May 2018 [internet publication]Full text

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.Full text  Abstract

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

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

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

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.Full text  Abstract

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. Abstract

103. Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet. 2004 May;74(5):805-16 (erratum in: Am J Hum Genet. 2004 Aug;75(2):352).Full text  Abstract

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. Abstract

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

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

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.Full text  Abstract

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.Full text  Abstract

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

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. Abstract

Use of this content is subject to our disclaimer