Spinocerebellar ataxia type 3 (SCA3): clinical features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spinocerebellar ataxia type 3 (SCA3): clinical features. This is caused by mutations in the ataxin 3 (ATXN3, MDJ1) gene on chromosome 14q.

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

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Ophthalmic features

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Central neurological features

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Peripheral neurological features

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Differential diagnosis

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Synonym

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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.
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