autosomal recessive spinocerebellar ataxia 4

An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-

An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21.

Signs and symptoms

• Gait ataxia
• Ataxia
• Abnormal pyramidal sign
• Dysarthria
• Cerebellar atrophy
• Lower limb muscle weakness
• Peripheral axonal neuropathy
• Dystonia
• Distal amyotrophy
• Distal muscle weakness

Also known as: SCA24; SCAR4; SCASI; autosomal recessive cerebellar ataxia-saccadic intrusion syndrome; spinocerebellar ataxia 24