Conditions / Genetic

spinocerebellar ataxia 12

info ยท Genetic

An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene.

Signs and symptoms

  • Action tremor
  • Parkinsonism
  • Abnormality of eye movement
  • Dysmetria
  • Axial dystonia
  • Cerebellar atrophy
  • Cerebral cortical atrophy
  • Dysarthria
  • Dysdiadochokinesis
  • Progressive cerebellar ataxia