Spinocerebellar ataxia type 25 (SCA25)

Evidence-based neurology checklist on spinocerebellar ataxia type 25 (sca25): Genetics This is caused by mutations in chromosome 2p The transmission is autosomal dominant The onset age is 1-39 years Clinical features Differential diagnosis Investigations

Genetics

  • This is caused by mutations in chromosome 2p
  • The transmission is autosomal dominant
  • The onset age is 1-39 years

Clinical features

Differential diagnosis

Investigations

References

  1. Stevanin G, Bouslam N, Thobois S, et al. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol 2004; 55:97-104.
  2. 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.
  3. Stevanin G, Broussolle E, Streichenberger N, Kopp N, Brice A, Durr A. Spinocerebellar ataxia with sensory neuropathy (SCA25). Cerebellum 2005; 4:58-61.

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