Article
Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2014
Appel-Cresswell Silke, Rajput Ali H, Sossi Vesna, Thompson Christina, Silva Vanessa, McKenzie Jessamyn, Dinelle Katherine, McCormick Siobhan E, Vilariño-Güell Carles, Stoessl A Jon, Dickson Dennis W, Robinson Chris A, Farrer Matthew J, Rajput Alex
Abstract excerpt
BACKGROUND: Families of Dutch-German-Russian Mennonite descent with multi-incident parkinsonism have been identified as harboring a pathogenic DNAJC13 p.N855S mutation and are awaiting clinical and pathophysiological characterization. METHODS: Family members were examined clinically longitudinally, and 5 underwent dopaminergic PET imaging. Four family members came to autopsy. RESULTS: Of the 16 symptomatic...
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