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Lorenzo‐Betancor, Oswaldo

https://orcid.org/0000-0002-5607-8363

A5085461645 | I201448701

Mayo Clinic

University of Washington

Citations 13

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders

Neurology | November 11, 2015 | Volume: 85 | Issue: 23 | Pages: 2016-2025

10.1212/wnl.0000000000002170 | PMID 26561290

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

Neurology | September 3, 2015 | Volume: 85 | Issue: 19 | Pages: 1680-1686

10.1212/wnl.0000000000001946 | PMID 26333800

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients

European Journal of Neurology | August 17, 2015 | Volume: 22 | Issue: 9 | Pages: 1323-1325

10.1111/ene.12770 | PMID 26278106

BackgroundRecently, 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.MethodsIn 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 disease (LBD).ResultsOur sequence analysis did not identify any coding variants in exon 24 of DNAJC13. Two previously described variants in intron 23 (rs200204728 and rs2369796) were observed.ConclusionOur results indicate that the region surrounding the DNAJC13 p.Asn855Ser substitution is highly conserved and mutations in this exon are not a common cause of PD or LBD among Caucasian populations.