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 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

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.
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Related checklists

• Autosomal dominant spastic ataxia (SPAX1)
• Autosomal recessive spastic ataxia 2 (SPAX2)
• Autosomal recessive spastic ataxia 3 (SPAX3)
• Autosomal recessive spastic ataxia 4 (SPAX4)
• Autosomal recessive spastic ataxia 5 (SPAX5)
• Autosomal dominant spastic ataxia 7 (SPAX7)
• Autosomal recessive spastic ataxia 8 (SPAX8)
• Galloway Mowat syndrome (GAMOS)
• PHARC syndrome
• Spastic ataxias: differential diagnosis