autosomal recessive spinocerebellar ataxia 24

An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1.

Signs and symptoms

• Cataract
• Cerebellar atrophy
• Dysarthria
• Gait ataxia
• Limb ataxia
• Horizontal nystagmus
• Spastic gait

Also known as: SCAR24