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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-10-2018
Symbol SCAR26
Location 19q13.31
Name Spinocerebellar ataxia, autosomal recessive 26
Corresponding gene XRCC1
Main clinical features
  • disorder progressive with neurologic decline; gait and limb ataxia, with dysmetria, dysdiadochokinesis, dysarthria, and dysphagia
  • oculomotor apraxia with nystagmus and hypermetric saccades and peripheral neuropathy with distal muscle weakness, distal sensory impairment, and loss of reflexes
  • nerve conduction studies showed a chronic length-dependent sensorimotor, predominantly axonal peripheral neuropathy
  • brain imaging showed progressive cerebellar atrophy
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease