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GENATLAS PHENOTYPE

last update : 30-05-2009

Symbol	SCA18
Location	7q22-q31
HGNC id	15744
Name	spinocerebellar ataxia 18
Other name(s)	sensorymotor neuropathy with ataxia
Corresponding gene	IFRD1
Other symbol(s)	SMNA
Main clinical features	axonal sensory neuropathy with neurogenic muscular atrophy, poor coordination of hands, speech, and eye neuropathy , progressive sensory loss later in the disease, cerebellar and motor-tract dysfunction develops; at MRI mild cerebellar atrophy
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
	neurology
Type	disease

Gene product

Name	IFRD1 candidate gene

Remark(s)