Spinocerebellar ataxia type 42 (SCA42)

Evidence-based neurology checklist on spinocerebellar ataxia type 42 (sca42): Genetics This is caused by mutations in the CACNA1G gene on chromosome 17q The gene encodes the calcium channel CaV3.1 The transmission is autosomal dominant The onset age is 20-70 years Clinical features Investigations

Genetics

  • This is caused by mutations in the CACNA1G gene on chromosome 17q
  • The gene encodes the calcium channel CaV3.1
  • The transmission is autosomal dominant
  • The onset age is 20-70 years

Clinical features

Investigations

References

  1. Morino H, Matsuda Y, Muguruma K, et al. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia. Mol Brain 2015; 8:89.
  2. Coutelier M, Blesneac I, Monteil A, et al. A recurrent mutation in CACNA1G alters Cav3.1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia. Am J Hum Genet 2015; 97:726-737.

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