Article
DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.
European journal of neurology - 1 Sept 2015
Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza A I, Labbe C, Walton R L, Strongosky A J, van Gerpen J A, Uitti R J, McLean P J, Springer W, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, McCarthy A, Lynch T, Puschmann A, Rektorova I, Sanotsky Y, Vilariño-Güell C, Farrer M J, Ferman T J, Boeve B F, Petersen R C, Parisi J E, Graff-Radford N R, Dickson D W, Wszolek Z K, Ross O A
Abstract excerpt
BACKGROUND: Recently, a novel mutation in exon 24 of DNAJC13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson's disease (PD) in a multi-incident Mennonite family. METHODS: In the present study the mutation containing exon of the DNAJC13 gene has been sequenced in a Caucasian series consisting of 1938 patients with clinical PD and 838 with pathologically diagnosed Lewy body...
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