Spinocerebellar ataxia type 19 (SCA19)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spinocerebellar ataxia type 19 (SCA19). This is caused by mutations in the KCND3 gene on chromosome 1p. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the KCND3 gene on chromosome 1p
  • The gene encodes the voltage gated potassium channel Kv4.3
  • The transmission is autosomal dominant
  • The onset is in the third decade
  • It is probably the same as SCA 22

Clinical features

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Magnetic resonance imaging (MRI) head

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References

  1. Verbeek DS, Schelhaas JH, Ippel EF, Beemer FA, Pearson PL, Sinke RJ. Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum Genet 2002; 111:388-393.
  2. Schelhaas HJ, van de Warrenburg BP. Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19). Cerebellum 2005; 4:51-54.
  3. Duarri A, Jezierska J, Fokkens M, et al. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol 2012; 72:870-880. 
  4. Duarri A, Lin MC, Fokkens MR, et al. Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. Cell Mol Life Sci 2015; 72:3387-3399.
  5. 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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