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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))