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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-10-2016
Symbol SCAR10
Location 3p22.1
Name spinocerebellar ataxia, autosomal recessive 10
Corresponding gene ANO10
Other symbol(s) ARCA3, CLA5
Main clinical features
  • characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging
  • mean age at onset was 33 years (range, 17-43 years)
  • slowly progressive ataxia and dysarthria leading to severe disability with epilepsy and learning difficulties, retinal degeneration and cataract
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
  • ANO10 defects cause secondary low CoQ10 and SCAR10 patients may benefit from CoQ10 supplementation (PMID: 25182700))