Conditions / Genetic

hereditary spastic paraplegia 35

info · Genetic · ICD-10: G11.4

A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1.

Signs and symptoms

  • Lower limb spasticity
  • Gait disturbance
  • Dystonia
  • Strabismus
  • Dysmetria
  • Cerebellar atrophy
  • Ataxia
  • Neurodegeneration
  • Nystagmus
  • Abnormal periventricular white matter morphology

Also known as: FAHN; SPG35; autosomal recessive spastic paraplegia 35; autosomal recessive spastic paraplegia type 35; fatty acid hydroxylase-associated neurodegeneration