cerebellar ataxia type 48

info · Genetic

An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3.

Signs and symptoms

Ataxia
Depression
Mental deterioration
Dysarthria
Anxiety
Hyperreflexia
Cerebellar atrophy
Parkinsonism
Dysphagia
Dysmetria

Also known as: SCA48