Dentatorubropallidoluysian atrophy (DRPLA) is one of the CAG repeat diseases like Huntington's disease. It is caused by expansion of a CAG repeat in the atrophin 1 gene and shows various combinations of clinical symptoms depending on the age of onset. The clinical features of DRPLA include progressive myoclonus, seizure, and mental retardation in patients with an earlier onset (generally < 20 years) and cerebellar ataxia, choreoathetosis, and dementia in patients with a later onset (> 40 years).
Category
Neurodegenerative disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Movement disorders
8A01 Choreiform disorders
H00060 Dentatorubropallidoluysian atrophy (DRPLA)