Spinocerebellar ataxia type 20 (SCA20)

Evidence-based neurology checklist on spinocerebellar ataxia type 20 (sca20): Genetics This is caused by mutations in chromosome 11q It is a CAG/CTG or ATTCT/AGAAT repeat expansion disorder Onset features Clinical features Differential diagnosis Magnetic resonance imaging (MRI) brain: features…

Genetics

  • This is caused by mutations in chromosome 11q
  • It is a CAG/CTG or ATTCT/AGAAT repeat expansion disorder

Onset features

Clinical features

Differential diagnosis

Magnetic resonance imaging (MRI) brain: features

Computed tomography (CT)

References

  1. Knight MA, Gardner RJ, Bahlo M, et al. Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 2004; 127:1172-1181.
  2. Storey E, Knight MA, Forrest SM, Gardner RJ. Spinocerebellar ataxia type 20. Cerebellum 2005; 4:55-57.
  3. Whaley NR, Fujioka S, Wszolek ZK. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis 2011; 6:33.
  4. Coutinho P, Cruz VT, Tuna A, Silva SE, Guimarães J. Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia. Arch Neurol 2006; 63:553-555.

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