Evaluation of ataxia

Diseases

Summary

Ataxia is a neurologic syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles.

It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.

The list of causes of ataxia is extensive. Typically, when considering a differential diagnosis, ataxia is classified on the basis of whether it is acute, subacute, or chronic. Ataxia may also be classified by age of onset (childhood vs. adult), whether it is hereditary or acquired, and whether it is associated with other clinical features (e.g., seizures, dystonia, vision loss).

Degenerative ataxia is the term used to denote ataxia related to cerebellar atrophy of both genetic and unknown causation. Other terms that have been used for this type of ataxia in a broad sense include spinocerebellar degenerations and olivopontocerebellar atrophy, but these are becoming obsolete.National Ataxia Foundation

Epidemiology

There are no precise data regarding the prevalence of ataxia of all causes.[1] [2] Epidemiologic studies that focus on hereditary types of ataxia have shown a prevalence of around 10 per 100,000 population, and idiopathic ataxia probably outnumbers hereditary cases.[3] [4] Since there are many causes of degenerative and inherited ataxias, each individual type of ataxia is relatively rare. In the case of genetic forms of ataxia, there are clusters of high incidence of specific types due to founder effects and ethnic and geographic variations in the prevalence of many mutations.[5]

Library

Acute bilateral cerebellar infarct, as seen on diffusion-weighted imaging sequence magnetic resonance image
Cerebellar infarct as seen on fluid-attenuated inversion recovery sequence magnetic resonance image: note secondary edema and effacement of the fourth ventricle
Infarct in the dorsolateral medulla together with scattered infarcts in the cerebellum, as seen on diffusion-weighted imaging sequence magnetic resonance image
Computed tomography scan of the brain showing a hemorrhage in the cerebellum with extension into the fourth ventricle
Large mass lesion in the cerebellum with pressure effects, as seen on MRI
MRI of brain showing early cerebellar and brain stem atrophy in SCA 1
Pes cavus deformity in Friedreich ataxia
Early conjunctival telangiectasia in a patient with ataxia telangiectasia
Tendon xanthoma seen in cerebrotendinous xanthomatosis

Citations

Key Articles

Friedreich's Ataxia Research Alliance. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. Nov 2022 [internet publication].[Abstract][Full Text]
Ataxia UK. Management of the ataxias - towards best clinical practice (third edition). Jul 2016 [internet publication].[Full Text]
American College of Radiology. ACR appropriateness criteria: dizziness and ataxia. 2023 [internet publication].[Full Text]
American College of Radiology. ACR appropriateness criteria: ataxia - child. 2022 [internet publication].[Full Text]

Other Online Resources

National Ataxia Foundation
Online Mendelian Inheritance in Man (OMIM)

Referenced 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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
19. Hunt A, Harrington D, Robinson S. Vitamin B12 deficiency. BMJ. 2014 Sep 4;349:g5226.[Abstract][Full Text]
20. Sukumar N, Saravanan P. Investigating vitamin B12 deficiency. BMJ. 2019 May 10;365:l1865.[Abstract][Full Text]
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.[Abstract][Full Text]
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. National Institutes of Health. Friedreich ataxia. Jun 2017 [internet publication].[Full Text]
28. Friedreich's Ataxia Research Alliance. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. Nov 2022 [internet publication].[Abstract][Full Text]
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.[Abstract][Full Text]
30. Ataxia UK. Management of the ataxias - towards best clinical practice (third edition). Jul 2016 [internet publication].[Full Text]
31. Delatycki MB, Corben LA. Clinical features of friedreich ataxia. J Child Neurol. 2012 Sep;27(9):1133-7.[Abstract][Full Text]
32. 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.[Abstract][Full Text]
33. Subramony SH, Genetics of inherited ataxias. Continuum. 2005;11:115-42.
34. Newrick L, Sharrack N, Hadjivassiliou M. Late-onset ataxia telangiectasia. Neurol Clin Pract. 2014 Aug;4(4):365-367.[Abstract][Full Text]
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.[Abstract][Full Text]
36. Onodera O. Spinocerebellar ataxia with ocular motor apraxia and DNA repair. Neuropathology. 2006 Aug;26(4):361-7.[Abstract]
37. 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. [Abstract][Full Text]
38. 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]
39. 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]
40. 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.[Abstract][Full Text]
41. 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.[Abstract][Full Text]
42. 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.[Abstract][Full Text]
43. Bird TD. Hereditary ataxia overview. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Seattle, WA: University of Washington; 2016.[Abstract][Full Text]
44. Sun YM, Lu C, Wu ZY. Spinocerebellar ataxia: relationship between phenotype and genotype - a review. Clin Genet. 2016 Oct;90(4):305-14.[Abstract]
45. Shakkottai VG, Fogel BL. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. Neurol Clin. 2013 Nov;31(4):987-1007.[Abstract][Full Text]
46. Donato SD, Mariotti C, Taroni F. Spinocerebellar ataxia type 1. Handb Clin Neurol. 2012;103:399-421.[Abstract][Full Text]
47. 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]
48. 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]
49. Coarelli G, Brice A, Durr A. Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view. F1000Res. 2018;7:.[Abstract][Full Text]
50. 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.[Abstract][Full Text]
51. Sullivan R, Yau WY, O'Connor E, et al. Spinocerebellar ataxia: an update. J Neurol. 2019 Feb;266(2):533-544.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
54. 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.[Abstract][Full Text]
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.[Abstract]
56. 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.[Abstract][Full Text]
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.[Abstract][Full Text]
58. Perlam SL. Evaluation and Management of ataxic disorders. An overview for Physicians. 1st ed. Minneapolis, MN: National Ataxia Foundation; 2016.[Full Text]
59. Ikeda Y, Daughters RS, Ranum LP. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum. 2008;7(2):150-8.[Abstract]
60. 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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
63. Zhang Y, Kaczmarek LK. Kv3.3 potassium channels and spinocerebellar ataxia. J Physiol. 2016 Aug 15;594(16):4677-84.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract]
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.[Abstract]
67. Yang S, Li XJ, Li S. Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis. Rare Dis. 2016;4(1):e1223580.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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. 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]
72. 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]
73. Storey E, Gardner RJ. Spinocerebellar ataxia type 20. Handb Clin Neurol. 2012;103:567-73.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract]
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.[Abstract][Full Text]
82. 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.[Abstract][Full Text]
83. 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.[Abstract][Full Text]
84. Ishikawa K, Sato N, Nimi Y, et al. Spinocerebellar ataxia type 31. Rinsho Shinkeigaku. 2010 Nov;50(11):985-7.[Abstract]
85. 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.[Abstract][Full Text]
86. Seidel K, Siswanto S, Brunt ER, et al. Brain pathology of spinocerebellar ataxias. Acta Neuropathol. 2012 Jul;124(1):1-21.[Abstract][Full Text]
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.[Abstract]
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.[Abstract][Full Text]
89. OMIM. Spinocerebellar Ataxia 41; SCA41. June 2015 [internet publication][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
92. 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.[Abstract][Full Text]
93. 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.[Abstract][Full Text]
94. OMIM. Fat Atypical Cadherin 2; Fat2. September 2019 [internet publication][Full Text]
95. OMIM. Spinocerebellar Ataxia 46; SCA46. November 2017 [internet publication].[Full Text]
96. OMIM. Spinocerebellar Ataxia 47; SCA47. May 2018 [internet publication][Full Text]
97. 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.[Abstract][Full Text]
98. Carroll LS, Massey TH, Wardle M, et al. Dentatorubral-pallidoluysian Atrophy: An Update. Tremor Other Hyperkinet Mov (N Y). 2018;8:577.[Abstract][Full Text]
99. Bailey CS, Moldenhauer HJ, Park SM, et al. <i>KCNMA1</i>-linked channelopathy. J Gen Physiol. 2019 Oct 7;151(10):1173-1189.[Abstract][Full Text]
100. 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.[Abstract][Full Text]
101. 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.[Abstract][Full Text]
102. 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.[Abstract][Full Text]
103. 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.[Abstract][Full Text]
104. 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]
105. 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).[Abstract][Full Text]
106. 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]
107. Powers WJ, Rabinstein AA, Ackerson T, et al. Guidelines for the Early Management of Patients With Acute Ischemic Stroke: 2019 Update to the 2018 Guidelines for the Early Management of Acute Ischemic Stroke: A Guideline for Healthcare Professionals From the American Heart Association/American Stroke Association. AHA. 2019 December 12; 50(12):e344-e418.[Full Text]
108. 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.
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.[Abstract][Full Text]
110. 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]
111. American College of Radiology. ACR appropriateness criteria: cerebrovascular diseases - stroke and stroke-related conditions. 2023 [internet publication].[Full Text]
112. American College of Radiology. ACR appropriateness criteria: dizziness and ataxia. 2023 [internet publication].[Full Text]
113. American College of Radiology. ACR appropriateness criteria: ataxia - child. 2022 [internet publication].[Full Text]
114. 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]
115. Bourke T, Keane D. Friedreich's Ataxia: a review from a cardiology perspective. Ir J Med Sci. 2011 Dec;180(4):799-805.[Abstract]