AUTOSOMAL-DOMINANT DENTATORUBROPALLIDOLUYSIAN ATROPHY IN THE UNITED-KINGDOM

Dentatorubropallidoluysian atrophy (DRPLA) has been described chiefly in Japan and appears to be rare in Europe. It is of autosomal dominant inheritance. We report the first British family with DRPLA, which con tains four affected individuals in two generations. The diagnosis was made at autopsy in one case. The age of onset of symptoms ranged from 15 to 38 years, and clinical features included ataxia, dementia, chore a, and dystonia; three patients had generalized seizures. The three li ving patients resemble those with early Huntington's disease clinicall y. Three main phenotypes of DRPLA have been proposed: an ataxo-choreoa thetoid type, a pseudo-Huntington type, and a myoclonic epilepsy type. The variation in clinical presentation in our family demonstrates the difficulty in applying such classifications to this and other dominan tly inherited disorders with phenotypic variation. DRPLA is likely to be confused with Huntington's disease in European families.