Spinocerebellar ataxia type 31 (SCA31)

Evidence-based neurology checklist on spinocerebellar ataxia type 31 (sca31): Genetics This is caused by mutations in the BEAN, TK2, and KIF1 genes on chromosome 16q It is a TGGAA, TACAA, TAAAA and UGGAA pentanucleotide repeat disorder The transmission is autosomal dominant The mean onset age is…

Genetics

  • This is caused by mutations in the BEAN, TK2, and KIF1 genes on chromosome 16q
  • It is a TGGAA, TACAA, TAAAA and UGGAA pentanucleotide repeat disorder
  • The transmission is autosomal dominant
  • The mean onset age is 58-59 years

Pathological features

Onset features

Other clinical features

Differential diagnosis: SCA6

Magnetic resonance imaging (MRI) brain

References

  1. 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; 8:14. 
  2. Saucier J, Al-Qadi M, Amor MB, Ishikawa K, Chamard-Witkowski L. Spinocerebellar ataxia type 31: a clinical and radiological literature review. J Neurol Sci 2023; 444:120527.
  3. Hasegawa A, Koike R, Koh K, et al. Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family. J Neurol Sci 2017; 372:128-130. 
  4. Niimi Y, Takahashi M, Sugawara E, et al. Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis. Neuropathology 2013; 33:600-611. 
  5. Yoshida K, Asakawa M, Suzuki-Kouyama E, et al. Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31. Neuropathology 2014; 34:261-267.
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