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GENATLAS PHENOTYPE

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

Remark(s)

ANO10 defects cause secondary low CoQ10 and SCAR10 patients may benefit from CoQ10 supplementation (PMID: 25182700))