dentatorubral-pallidoluysian atrophy

info · Genetic

An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.

Signs and symptoms

Atrophy of the dentate nucleus
Ataxia
Choreoathetosis
Seizure
Chorea
Postural instability
Dementia
Intellectual disability
Dystonia
Myoclonus

Also known as: DRPLA; Haw River Syndrome; Naito-Oyanagi disease