Spinocerebellar ataxia type 19 (SCA19)

Evidence-based neurology checklist on spinocerebellar ataxia type 19 (sca19): 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…

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

Magnetic resonance imaging (MRI) head

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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