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GENATLAS PHENOTYPE
last update : 17-10-2017
Symbol SCA44
Location 6q24.3
Name spinocerebellar ataxia 44
Corresponding gene GRM1
Main clinical features
  • difficulty walking due to gait ataxia and frequent falls, although none were wheelchair-bound or severely disabled; variable features included dysarthria, dysphagia, dysmetria, and dysdiadochokinesis
  • brain imaging showed cerebellar atrophy
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types other truncated protein loss of receptor function and consequent disruption of downstream signaling events (PMID: 28886343)
    Remark(s)