Conditions / Genetic

spinocerebellar ataxia 17

info ยท Genetic

An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene.

Signs and symptoms

  • Dementia
  • Ataxia
  • Chorea
  • Mutism
  • Bradykinesia
  • Gaze-evoked nystagmus
  • Dysmetria
  • Dystonia
  • Apraxia
  • Cerebellar atrophy