Spinocerebellar ataxia type 6 (SCA6)

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

Spinocerebellar ataxia type 6 (SCA6). This is caused by CAG repeat expansions on chromosome 19. Fully referenced neurology checklist.

Genetics

  • This is caused by CAG repeat expansions on chromosome 19
  • Normal repeat size is 4-15 CAG repeats: 21-28 repeats are pathogenic
  • The transmission is autosomal dominant
  • The mean onset age is 50 years

CACNA1A mutation associated disorders

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Cerebellar features

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Other features

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Investigations

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References

  1. Sinke RJ, Ippel EF, Diepstraten CM, et al. Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families. Arch Neurol 2001; 58:1839-1844.
  2. Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen JT, Riess O. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. JNNP 1998; 64:67-73.
  3. Ikeuchi T, Takano H, Koide R, et al. Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 1997; 42:879-884.
  4. Stevanin G, Dürr A, David G, et al. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 1997; 49:1243-1246.
  5. Ishikawa K, Tanaka H, Saito M, et al. Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am J Hum Genet 1997; 61:336-346.
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