Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 18-10-2016
Symbol SCAR22
Location 2q11.2
Name spinocerebellar ataxia, autosomal recessive 22
Corresponding gene VWA3B
Main clinical features
  • intellectual disability associated with adult-onset cerebellar ataxia; following normal early development, the patients showed variable severity of intellectual disability
  • cerebellar ataxia manifested at around 40 years of age, with dysarthria and gait instability with falls; initial neurologic examination showed pyramidal signs, including hyperreflexia and spasticity of the lower limbs, as well as cerebellar signs, such as dysmetria and nystagmus
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    mental retardation
    Type disease