Spinocerebellar ataxia type 36 (SCA36)

Evidence-based neurology checklist on spinocerebellar ataxia type 36 (sca36): Genetics This is caused by mutations in the NOP56 gene on chromosome 20 It is a GGCCTG hexanucleotide repeat expansion disorder Normal repeat length is 5-14 repeats: >650 repeats are pathogenic The transmission is…

Genetics

  • This is caused by mutations in the NOP56 gene on chromosome 20
  • It is a GGCCTG hexanucleotide repeat expansion disorder
  • Normal repeat length is 5-14 repeats: >650 repeats are pathogenic
  • The transmission is autosomal dominant
  • The onset age is 39-65 years

Clinical features

Pathological features

Investigations

References

  1. Ikeda Y, Ohta Y, Kobayashi H, et al. Clinical features of SCA36: a novel spinocerebellar ataxia with motor neuron involvement (Asidan). Neurology 2012; 79:333-341. 
  2. Obayashi M, Stevanin G, Synofzik M, et al. Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. JNNP 2015; 86:986-995. 
  3. Zeng S, Tang B, Wang J. Recent advances in clinical and genetic research of spinocerebellar ataxia type 36. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2015; 32:886-889.
  4. Sugihara K, Maruyama H, Morino H, et al. The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients. Mov Disord 2012; 27:1158-1163. 
  5. Ikeda Y, Ohta Y, Kurata T, Shiro Y, Takao Y, Abe K. Acoustic impairment is a distinguishable clinical feature of Asidan/SCA36. J Neurol Sci 2013; 324:109-112.
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