spastic ataxia 1

A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13.

Signs and symptoms

• Leg muscle stiffness
• Dysphagia
• Memory impairment
• Spastic ataxia
• Abnormality of eye movement
• Dystonia
• Gait disturbance
• Pes cavus
• Dysarthria
• Supranuclear gaze palsy