Spinocerebellar ataxia type 22 (SCA22)

Evidence-based neurology checklist on spinocerebellar ataxia type 22 (sca22): Genetics This is caused by mutations in the KCND3 gene on chromosome 1p It is probably the same as SCA 19 The onset age is 10-46 years Clinical features Magnetic resonance imaging (MRI) brain

Genetics

  • This is caused by mutations in the KCND3 gene on chromosome 1p
  • It is probably the same as SCA 19
  • The onset age is 10-46 years

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Chung MY, Lu YC, Cheng NC, Soong BW. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain 2003; 126:1293-1299.
  2. Schelhaas HJ, van de Warrenburg BP. Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19). Cerebellum 2005; 4:51-54.
  3. Lee YC, Durr A, Majczenko K, et al. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol 2012; 72:859-869. 
  4. Schelhaas HJ, Verbeek DS, Van de Warrenburg BP, Sinke RJ. SCA19 and SCA22: evidence for one locus with a worldwide distribution. Brain 2004; 127:E6.

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