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GENATLAS PHENOTYPE

last update : 07-03-2016

Symbol	ATCAD
Location	13q22.3
Name	cerebellar ataxia, adulte -onset
Corresponding gene	CLN5
Main clinical features	difficulty in walking, dysarthria and progressive cognitive decline, associated to visual loss; brain MRI showed severe cerebellar atrophy, prevalent in the vermis, with marked cortical atrophy of both hemispheres
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)

mutation c.935G > A;p.Ser312Asn in CLN5, likely affecting ER-lysosome protein trafficking (PMID: 25359263))