spinocerebellar ataxia with axonal neuropathy 1

A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.

Signs and symptoms

• Impaired distal proprioception
• Steppage gait
• Hypercholesterolemia
• Pes cavus
• Cerebellar atrophy
• Distal amyotrophy
• Dysarthria
• Impaired vibratory sensation
• Areflexia
• Ataxia

Also known as: SCAN1; autosomal recessive spinocerebellar ataxia with axonal neuropathy 1; spinocerebellar ataxia with axonal neuropathy type 1