Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 16-02-2011
Symbol SCA15
Location 3p26.1
HGNC id 13439
Name spinocerebellar ataxia 15
Corresponding gene ITPR1
Main clinical features
  • progressive neurodegenerative disorder characterized by pure cerebellar ataxia, very slow progression, and distinct cerebellar atrophy
  • slowly progressive cerebellar ataxia and vermal cerebellar atrophy, while clinical and electrophysiological signs of extracerebellar affection were mild and more variable (PMID: 21367767))
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense      
    deletion     genomic deletion
    Remark(s)
  • most common non-trinucleotide repeat SCA in Central Europe (PMID: 21367767))