Spinocerebellar ataxia type 21 (SCA21)

Evidence-based neurology checklist on spinocerebellar ataxia type 21 (sca21): Genetics This is caused by mutations in the TMEM240 gene on chromosome 1p The transmission is autosomal dominant The onset age is in the mid-teens Clinical features Magnetic resonance imaging (MRI) brain: features

Genetics

  • This is caused by mutations in the TMEM240 gene on chromosome 1p
  • The transmission is autosomal dominant
  • The onset age is in the mid-teens

Clinical features

Magnetic resonance imaging (MRI) brain: features

References

  1. Delplanque J, Devos D, Huin V, et al. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. Brain 2014; 137:2657-2663. 
  2. Zeng S, Zeng J, He M, et al. Spinocerebellar ataxia type 21 exists in the Chinese Han population. Sci Rep 2016; 6:19897.
  3. Devos D, Schraen-Maschke S, Vuillaume I, et al. Clinical features and genetic analysis of a new form of spinocerebellar ataxia. Neurology 2001; 56:234-238.
  4. 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; 6:33.

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