Conditions / Genetic
spinocerebellar ataxia 46
info · Genetic
An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13.
Signs and symptoms
- Dysmetria
- Cerebellar atrophy
- Gait ataxia
- Dysarthria
- Sensory axonal neuropathy
- Limb ataxia
- Nystagmus
- Slow saccadic eye movements
- Jerky ocular pursuit movements
- Positive Romberg sign