Conditions / Genetic

spinocerebellar ataxia 8

info ยท Genetic

An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene.

Signs and symptoms

  • Incoordination
  • Dysphagia
  • Cerebellar atrophy
  • Dysarthria
  • Abnormal pyramidal tract morphology
  • Progressive cerebellar ataxia
  • Nystagmus
  • Slow saccadic eye movements
  • Impaired smooth pursuit
  • Peripheral neuropathy