Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies
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- 作者：Joshua T. Geigera ; Jinhui Dingb ; Barbara Crainc ; Olga Pletnikovac ; Christopher Letsonb ; Ted M. Dawsond ; e ; f ; g ; Liana S. Rosenthald ; Alexander Pantelyatd ; J. Raphael Gibbsb ; Marilyn S. Albertd ; Dena G. Hernandezb ; Argye E. Hillisd ; David J. Stoneh ; Andrew B. Singletonb ; North American Brain Expression Consortium
- 关键词：Dementia with Lewy bodies ; Exome sequencing ; Alzheimer dementia ; Lewy body dementia ; GBA ; PSEN1 ; APP ; APOE
- 刊名：Neurobiology of Disease
- 出版年：2016
- 出版时间：October 2016
- 年：2016
- 卷：94
- 期：Complete
- 页码：55-62
- 全文大小：642 K
文摘
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APOE ε4 significantly increases risk for DLB and decreases survival.
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Pathogenic missense mutations and risk variants in GBA, PSEN1 and APP are common in DLB.
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Genetic defects place DLB along a spectrum between Parkinson disease and Alzheimer dementia.