Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism

摘要: We present the clinical features of 17 patients from 12 Japanese families with familial juvenile parkinsonism suggesting autosomal-recessive inheritance (AR-JP). Because marriages parents in all but one family were consanguineous and only first generation, an trait was strongly suspected. Analysis showed female predominance, mean age at onset 27.8 years, slow progression. The symptoms parkinsonian triad (tremor, rigidity, bradykinesia) mild, gait freezing, hyperreflexia, foot dystonia, retropulsion relatively prominent. A characteristic finding amelioration after sleep patients. Response to levodopa satisfactory, dopa-induced choreic limb dyskinesia wearing-off phenomenon occurred frequently. Juvenile is a syndrome that encompasses several entities. similarity findings these patients, differences other types parkinsonism, indicates AR-JP distinct entity. NEUROLOGY 1996;47: 160-166