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GENATLAS PHENOTYPE

last update : 31-03-2021

Symbol	SCAR8
Location	6q25.2
Name	spinocerebellar autosomal recesssive 8
Other name(s)	recessive ataxia of Beauce
Corresponding gene	SYNE1
Other symbol(s)	ARCA1
Main clinical features	pure cerebellar ataxia, late-onset, slow progression, with dysarthria, dysmetria, and minor abnormalities in saccades and smooth pursuit age at onset is highly variable, and but most often is in the second or third decades brain imaging typically shows cerebellar atrophy, sometimes with pontine involvement; rare patients may have an early-onset multisystemic disorder with impaired intellectual development and respiratory dysfunction
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)