Conditions / Genetic
spastic ataxia 2
info · Genetic
A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13.
Signs and symptoms
- Dysmetria
- Dysarthria
- Gait ataxia
- Hyperreflexia
- Head titubation
- Horizontal nystagmus
- Tremor
- Spasticity
- Spastic ataxia
- Distal amyotrophy