autosomal recessive spinocerebellar ataxia 27

info · Genetic

An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12.

Signs and symptoms

Cerebellar atrophy
Brisk reflexes
Hyperreflexia
Gliosis
Jerky ocular pursuit movements
Gaze-evoked nystagmus
Cerebral cortical atrophy
Gait ataxia
Gait imbalance
Depression

Also known as: SCAR27