Spinocerebellar ataxia type 10 (SCA10)

Evidence-based neurology checklist on spinocerebellar ataxia type 10 (sca10): 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 Clinical…

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

Clinical features

Investigations

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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