LESSONS FROM A REMARKABLE FAMILY WITH DOPA-RESPONSIVE DYSTONIA

A family is described in which dopa-responsive dystonia affected six m embers and segregated in an autosomal dominant fashion. Patients eithe r presented in childhood with dystonia of the legs, going to develop p arkinsonism and pseudopyramidal deficits, or in adult life with parkin sonian tremor and rigidity, with pseudo-pyramidal signs. Remarkably, i n the three cases with childhood onset the symptoms and signs of the c ondition were abolished 36 to 52 years later by small doses of levodop a. No long term side effects of levodopa have appeared after 15 years of treatment.