Spinocerebellar ataxia type 10 (SCA10)

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

Spinocerebellar ataxia type 10 (SCA10). This is caused by mutations in the ATXN10 gene on chromosome 22q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the ATXN10 gene on chromosome 22q
  • It is ATTCT pentanucleotide repeat expansion disease
  • Normal is 10 to 29 repeats: 800 to 4500 repeats are pathogenic

Onset features

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Clinical features

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Investigations

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References

  1. Matsuura T, Fang P, Lin X, et al. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet 2004; 74:1216-1224.
  2. Teive HA, Moro A, Moscovich M, et al. Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection. Arq Neuropsiquiatr 2015; 73:725-727.
  3. 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.
  4. Rasmussen A, Matsuura T, Ruano L, et al. Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Ann Neurol 2001; 50:234-239.
  5. Moro A, Munhoz RP, Raskin S, et al. Acute onset of cerebellar ataxia in a spinocerebellar ataxia type 10 patient after use of steroids. Arq Neuropsiquiatr 2013; 71:66. 
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