Article
Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.
Annals of neurology - 1 Sept 2005
Pramstaller Peter P, Schlossmacher Michael G, Jacques Thomas S, Scaravilli Francesco, Eskelson Cordula, Pepivani Imelda, Hedrich Katja, Adel Susanna, Gonzales-McNeal Melissa, Hilker Rüdiger, Kramer Patricia L, Klein Christine
Abstract excerpt
We report the clinical, genetic, and neuropathological findings of a seven generation-spanning pedigree with 196 individuals, 25 of whom had levodopa-responsive parkinsonism. Genetic analyses indicated Parkin mutations in 77 subjects. Among the 25 patients, 5 carried compound heterozygous mutations and met criteria for definite Parkinson's disease (PD) according to UK PD Society Brain Bank guidelines; 8 subjects...
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