Spinocerebellar ataxia type 42 (SCA42)

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

Spinocerebellar ataxia type 42 (SCA42). This is caused by mutations in the CACNA1G gene on chromosome 17q. Fully referenced neurology checklist.

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

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Investigations

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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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