LRRK2 variation and dementia with Lewy bodies
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- 作者：Michael G. Heckmana ; 1 ; heckman.michael@mayo.edu" class="auth_mail" title="E-mail the corresponding author ; Alexandra I. Soto-Ortolazab ; 1 ; Monica Y. Sanchez Contrerasb ; Melissa E. Murrayb ; Otto Pedrazad ; Nancy N. Diehla ; Ronald Waltonb ; Catherine Labbé ; b ; Oswaldo Lorenzo-Betancorb ; Ryan J. Uittie ; Jay van Gerpene ; Nilü ; fer Ertekin-Tanere ; Glenn E. Smithf ; Kejal Kantarcig ; Rodolfo Savicah ; David T. Jonesh ; Jonathan Graff-Radfordh ; David S. Knopmanh ; Val J. Loweg ; Clifford R. Jack Jr.g ; Ronald C. Petersenh ; Joseph E. Parisih ; i ; Rosa Rademakersb ; Zbigniew K. Wszoleke ; Neill R. Graff-Radforde ; Tanis J. Fermand ; Dennis W. Dicksonb ; Bradley F. Boeveh ; Owen A. Rossb ; c ; j ; k
- 关键词：Dementia with Lewy bodies ; Genetics ; LRRK2 ; Parkinson's disease
- 刊名：Parkinsonism & Related Disorders
- 出版年：2016
- 出版时间：October 2016
- 年：2016
- 卷：31
- 期：Complete
- 页码：98-103
- 全文大小：275 K
文摘
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We studied 417 DLB patients and 1790 controls in our primary analysis.
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7 pathogenic LRRK2 variants and 18 common LRRK2 variants were assessed.
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We identified 1 DLB patient who was a carrier of the LRRK2 p.G2019S mutation.
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The p.N551K-R1398H-K1423K haplotype showed a non-significant trend toward a protective association with DLB risk.
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These findings suggest that LRRK2 variation may play a limited role in susceptibility to DLB.