Spinocerebellar ataxia type 3 (SCA3): clinical features

Evidence-based neurology checklist on spinocerebellar ataxia type 3 (sca3): clinical features: Genetics This is caused by mutations in the ataxin 3 (ATXN3, MDJ1) gene on chromosome 14q There is a CAG polyglutamine repeat expansion disease The mutation causes a toxic gain of function The…

Genetics

  • This is caused by mutations in the ataxin 3 (ATXN3, MDJ1) gene on chromosome 14q
  • There is a CAG polyglutamine repeat expansion disease
  • The mutation causes a toxic gain of function
  • The transmission is autosomal dominant
  • SCA3 may also be associated with C9orf72 gene mutations
  • The APOE ε2 allele may reduce the age of onset of SCA3

Types

Ophthalmic features

Central neurological features

Peripheral neurological features

Differential diagnosis

Synonym

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. Fujioka S, Sundal C, Wszolek ZK. Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis 2013; 8:14. 
  3. Evers MM, Tran HD, Zalachoras I, et al. Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon. Neurobiol Dis 2013; 58:49-56. 
  4. Nóbrega C, Carmo-Silva S, Albuquerque D, et al. Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease. Brain 2015; 138:3537-3554.
  5. Wang C, Chen Z, Yang F, et al. Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China. PLoS One 2015; 10:e0130336.
  6. And 20 more. Subscribe to see the full list

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