Spinocerebellar ataxia type 8 (SCA8)

Evidence-based neurology checklist on spinocerebellar ataxia type 8 (sca8): Genetics This is caused by mutations in the ATXN8OS and ATXN8 genes on chromosome 13q It is a CTA/CTG repeat expansion disease Normal repeat number is 15-50: 71-1300 repeats is pathogenic The transmission is autosomal…

Genetics

  • This is caused by mutations in the ATXN8OS and ATXN8 genes on chromosome 13q
  • It is a CTA/CTG repeat expansion disease
  • Normal repeat number is 15-50: 71-1300 repeats is pathogenic
  • The transmission is autosomal dominant
  • The onset is from the fourth decade in males: it is earlier in females

Clinical features

Differential diagnosis

Magnetic resonance imaging (MRI) head

References

  1. Brusco A, Gellera C, Cagnoli C, et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 2004; 61:727-733.
  2. Cintra VP, Lourenço CM, Rocha MM, Tomaselli PJ, Marques W Jr. Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family. Acta Neurol Scand 2017; 136:541-545.
  3. Kim JS, Son TO, Youn J, Ki CS, Cho JW. Non-ataxic phenotypes of sca8 mimicking amyotrophic lateral sclerosis and Parkinson Disease. J Clin Neurol 2013; 9:274-279.
  4. Ikeda Y, Shizuka M, Watanabe M, Okamoto K, Shoji M. Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. Neurology 2000; 54:950-955.
  5. Ikeda Y, Shizuka-Ikeda M, Watanabe M, Schmitt M, Okamoto K, Shoji M. Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI. J Neurol Sci 2000; 182:76-79.

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