Spinocerebellar ataxia type 28 (SCA28)

Evidence-based neurology checklist on spinocerebellar ataxia type 28 (sca28): Genetics This is caused by mutations in the AFG3L2 gene on chromosome 18p The gene encodes the mitochondrial m-AAA protease subunit The transmission is autosomal dominant The mean onset age is 20-40 years Clinical…

Genetics

  • This is caused by mutations in the AFG3L2 gene on chromosome 18p
  • The gene encodes the mitochondrial m-AAA protease subunit
  • The transmission is autosomal dominant
  • The mean onset age is 20-40 years

Clinical features

Investigations

References

  1. 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.
  2. Cagnoli C, Mariotti C, Taroni F, et al. SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain 2006; 129:235-242.
  3. Mariotti C, Brusco A, Di Bella D, et al. Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum 2008; 7:184-188. 
  4. Cagnoli C, Stevanin G, Brussino A, et al. Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. Hum Mutat 2010; 31:1117-1124. 
  5. Chiang HL, Fuh JL, Tsai YS, Soong BW, Liao YC, Lee YC. Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia. J Neurol Sci 2021; 428:117600.
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