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GENATLAS PHENOTYPE

last update : 27-08-2014

Symbol	SCA38
Location	6p12
Name	spinocerebellar ataxia-38
Corresponding gene	ELOVL5
Main clinical features	pure form of autosomal dominant spinocerebellar ataxia walking difficulties due to gait ataxia between 34 and 51 years of age with nystagmus, slow saccades, dysarthria, and limb ataxia; slowly progressive evolution with preserved cognition mild to moderate axonal neuropathy
Genetic determination	autosomal dominant
Prevalence	incidence of <1p100 among European individuals affected by an autosomal-dominant ataxia (PMID: 25065913)
Function/system disorder	neurology
Type	disease

Remark(s)

mutant proteins had a less diffuse ER signal compared to wildtype, and tended to accumulate in the Golgi apparatus