Lessons fromaremarkable family withdopa- responsive dystonia

A familyisdescribed inwhichdoparesponsive dystonia affected sixmembers andsegregated inan autosomal dominantfashion. Patients either presented in childhood withdystonia ofthelegs, going to developparkinsonism and pseudopyramidal deficits, orinadultlifewith parkinsonian tremorandrigidity, with pseudo-pyramidal signs. Remarkably, in thethreecaseswithchildhood onsetthe symptomsand signsofthecondition wereabolished 36to52yearslaterby smalldosesoflevodopa. No longterm sideeffects oflevodopa haveappeared after 15yearsoftreatment. (7Neurol Neurosurg Psychiatry 1994;57:460-463)