DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY - CLINICAL-FEATURES OF A 5-GENERATION DANISH FAMILY

We describe the first Danish family with dentatorubral-pallidoluysian atrophy (DRPLA), containing 16 clinically affected individuals in five generations. Inheritance is autosomal dominant. The disorder was diag nosed as Huntington's disease (HD), but analysis of the IT15 gene for HD revealed normal alleles. The diagnosis of DRPLA was based on the fi nding of elongated CAG repeats in the B37 gene on chromosome 12 in aff ected individuals. The age at onset ranged from 13 to 60 years, with t he most severe clinical picture being associated with onset in childho od. Clinical features included varying combinations of dementia, eupho ria, visuomotor disturbances, speech problems, ataxia, tremor, epileps y, and involuntary movements presenting as chorea, athetosis, and dyst onia. We discuss characteristics of DRPLA that may enable the differen tiation from HD on a clinical basis. In conclusion, DRPLA should be co nsidered and DNA analysis is recommended in patients manifesting varyi ng combinations of extrapyramidal and cerebellar symptoms, especially when clinical features show pronounced intrafamilial variability, and dyscoordination, tremor, myoclonus, epilepsy, and euphoria are part of the syndrome.