DNAJC13 genetic variants in parkinsonism. Issue 2 (12th November 2014)

• Record Type: Journal Article
• Authors: Gustavsson, Emil K.; Trinh, Joanne; Guella, Ilaria; Vilariño‐Güell, Carles; Appel‐Cresswell, Silke; Stoessl, A. Jon; Tsui, Joseph K; McKeown, Martin; Rajput, Alex; Rajput, Ali H.; Aasly, Jan O.; Farrer, Matthew J.; Stacy (Chair), Mark; Lang, Anthony; Napier, Celeste; Samuel, Michael; Strafella, Antonio; Weintraub, Daniel
• Is Part Of: Movement disorders. Volume 30:Issue 2(2015)
• Page Start: 273
• Page End: 278
• Publication Date: 2014-11-12
• Subjects: Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.26064
• Languages: English
• ISSNs: 0885-3185

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <sec id="mds26064-sec-0001" sec-type="section"> <title>Background</title> <p>A novel mutation (p.N855S) in <italic>DNAJC13</italic> has been linked to familial, late‐onset Lewy body parkinsonism in a Dutch–German–Russian Mennonite multi‐incident kindred.</p> </sec> <sec id="mds26064-sec-0002" sec-type="section"> <title>Methods</title> <p> <italic>DNAJC13</italic> was sequenced in 201 patients with parkinsonism and 194 controls from Canada. Rare (minor allele frequency < 0.01) missense variants identified in patients were genotyped in two Parkinson's disease case–controls cohorts.</p> </sec> <sec id="mds26064-sec-0003" sec-type="section"> <title>Results</title> <p>Eighteen rare missense mutations were identified; four were observed in controls, three were observed in both patients and controls, and eleven were identified only in patients. Subsequent genotyping showed p.E1740Q and p.L2170W to be more frequent in patients, and p.R1516H being more frequent in controls. Additionally, p.P336A, p.V722L, p.N855S, p.R1266Q were seen in one patient each, and p.T1895M was found in two patients.</p> </sec> <sec id="mds26064-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Although the contribution of rare genetic variation in <italic>DNAJC13</italic> to parkinsonisms remains to be further elucidated, this study suggests that, in addition to p.N855S, other rare variants might affect disease susceptibility. © 2014 International Parkinson and Movement Disorder Society</p> </sec> </abstract>