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GENATLAS PHENOTYPE
last update : 23-08-2017
Symbol SCA37
Location 1p32
Name spinocerebellar ataxia 37
Corresponding gene DAB1
Main clinical features
  • adult onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging
  • a unique feature of this disorder is the early onset of altered vertical eye movements, often followed by onset of abnormal horizontal eye movements
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s) . unstable repeat insertion in DAB1 is likely a cause of cerebellar degeneration (PMID: 28686858))