Spinocerebellar ataxia type 6 (SCA6)

Evidence-based neurology checklist on spinocerebellar ataxia type 6 (sca6): 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…

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

Cerebellar features

Other features

Investigations

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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