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GENATLAS PHENOTYPE

last update : 07-03-2023

Symbol	SCA50
Location	17q25.3
Name	spinocerebellar ataxia 50
Corresponding gene	NPTX1
Main clinical features	cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging most patients develop symptoms as adults, although childhood onset has rarely been reported also more variable features may include tremor, dysarthria, dysphagia, and cognitive impairment with executive dysfunction
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

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