Conditions / Genetic

spinocerebellar ataxia 11

info ยท Genetic

An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene.

Signs and symptoms

  • Truncal ataxia
  • Cerebellar atrophy
  • Dysarthria
  • Gait ataxia
  • Progressive cerebellar ataxia
  • Nystagmus
  • Jerky ocular pursuit movements
  • Hyperreflexia
  • Limb ataxia
  • Gait imbalance