Autosomal recessive spastic ataxia 6 (SPAX6)

Evidence-based neurology checklist on autosomal recessive spastic ataxia 6 (spax6): Genetics This is typically caused by mutations in the gigantic exon 10 of the SACS gene The gene is on chromosome 13q The gene product is sacsin More than 100 mutations have been reported The mutations may be…

Genetics

  • This is typically caused by mutations in the gigantic exon 10 of the SACS gene
  • The gene is on chromosome 13q
  • The gene product is sacsin
  • More than 100 mutations have been reported
  • The mutations may be missense, nonsense, frameshift, or shift-splice
  • The transmission is usually autosomal recessive but it may be pseudodominant
  • It typically presents in French-Canadians of Quebec

Core clinical features

Other clinical features

Differential diagnosis

Variants

Pathological features

Magnetic resonance imaging (MRI): sites of atrophy

Magnetic resonance imaging (MRI): other features

Nerve conduction studies (NCS): features

Electroretinography (ERG)

Optical coherence tomography (OCT)

Synonym

References

  1. Ouyang Y, Takiyama Y, Sakoe K, et al. Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon. Neurology 2006; 66:1103-1104.
  2. Parkinson MH, Bremner F, Giunti P. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). ACNR 2014; 13:12-16.
  3. Terracciano A, Foulds NC, Ditchfield A, et al. Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay. Neurology 2010; 74:1152-1154.
  4. Takiyama Y. Sacsinopathies: sacsin-related ataxia. Cerebellum 2007; 6:353-359.
  5. Baets J, Deconinck T, Smets K, et al. Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology 2010; 75:1181-1188.
  6. And 10 more. Subscribe to see the full list

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