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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-10-2018
Symbol CHCA1
Location 17q21.33
Name childhood-onset cerebellar atrophy 1
Corresponding gene CACNA1G
Main clinical features
  • early onset cerebellar atrophy and/or hypoplasia, delayed psychomotor development
  • severe motor and cognitive impairment, cerebellar atrophy as well as variable features such as facial dysmorphisms, digital anomalies, microcephaly and epilepsy, oculomotor apraxia, strabismus
  • on the MRI, atrophic cerebellar vermis and hemisphere
  • Genetic determination autosomal recessive
    not applicable
    Function/system disorder neurology
    mental retardation
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function  
  • A961T and M1531V are gain-of-function mutations, promoting increased firing activity in deep cerebellar nucleus neurons (PMID: 29878067))