A family with parkinsonism, essential tremor, restless legs syndrome, and depression

摘要: Background: Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), restless legs syndrome (RLS). Methods: We describe the clinical, PET, pathologic characteristics of an extensive kindred from Arkansas with hereditary PD, ET, RLS. The pedigree contains 138 individuals. Sixty-five family members were examined neurologically up to 3 times 2004 2010. Clinical data collected medical records questionnaires. Genetic performed. Five underwent multitracer PET. Two individuals PD postmortem. Results: Eleven had generally mild slowly progressive symptoms. Age at onset was 39 74 years (mean 59.1, SD 13.4). All treated l-dopa responded positively. Postural or action present in 6 19 additional members. Fifteen persons reported symptoms PET showed reduced presynaptic dopamine function typical sporadic patient but not ET inheritance pattern autosomal dominant for No known pathogenic mutation PD-related genes found. Fourteen RLS depression. Neuropathologic examination revealed pallidonigral pigment spheroid degeneration ubiquitin-positive axonal spheroids, TDP43-positive pathology basal ganglia, hippocampus, brainstem, only sparse Lewy bodies. Conclusion: Familial forms RLS, depression occur this family. cause remains be elucidated.