autosomal recessive spinocerebellar ataxia 32

info · Genetic

An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26.

Signs and symptoms

Cerebellar atrophy
Dysarthria
Gait ataxia
Limb ataxia
Dysphagia
Saccadic smooth pursuit interruptions
Hypermetric saccades
Torticollis
Postural tremor
Gaze-evoked nystagmus

Also known as: SCAR32