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GENATLAS PHENOTYPE

last update : 07-12-2015

Symbol	SCA42
Location	17q21.33
Name	spinocerebellar ataxia 42
Corresponding gene	CACNA1G
Main clinical features	age of onset varied widely from 9 to 78 years; gait instability was the major manifesting symptom; even after decades of progression, the disability and symptoms remained mild to moderate, indicating stable cerebellar involvement ocular signs, including saccadic pursuit, horizontal nystagmus, and transient diplopia, were often noted
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

. a common variant affecting an arginine residue in the voltage sensor S4 segment of domain IV in CACNA1G segregates with the disease (PMID: 26456284))