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GENATLAS PHENOTYPE
last update : 11-04-2022
Symbol SCA47
Location 1p35.2
Name spinocerebellar ataxia 47
Corresponding gene PUM1
Main clinical features
  • slowly progressive cerebellar ataxia inadulthood, characterized by gait ataxia, dysmetria, dysarthria, and, in some cases, diplopia
  • brain imaging showed progressive mild cerebellar vermian atrophy
    • Genetic determination
    Function/system disorder
    Type susceptibility factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   haploinsufficiency haploinsufficiency Causes Pumilio1-associated developmental disability, ataxia, and seizure, PADDAS (PMID: 29474920)
    missense   under-expression in adult-onset Ataxia (PMID: 29474920)
    Remark(s)