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Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN)
Alzheimer's & Dementia ( IF 13.0 ) Pub Date : 2020-01-01 , DOI: 10.1002/alz.12010
Andrew J Aschenbrenner 1 , Bryan D James 2 , Eric McDade 1 , Guoqiao Wang 3 , Yen Ying Lim 4 , Tammie L S Benzinger 1, 5 , Carlos Cruchaga 1, 6 , Alison Goate 7 , Chengjie Xiong 1, 3 , Richard Perrin 8 , Virginia Buckles 1 , Ricardo Allegri 9 , Sarah B Berman 10 , Jasmeer P Chhatwal 11 , Anne Fagan 1 , Martin Farlow 12 , Antoinette O'Connor 13 , Bernardino Ghetti 14 , Neill Graff-Radford 15 , Jill Goldman 16 , Susanne Gräber 17 , Celeste M Karch 1, 6 , Jae-Hong Lee 18 , Johannes Levin 19, 20 , Ralph N Martins 21, 22 , Colin Masters 4 , Hiroshi Mori 23 , James Noble 16 , Stephen Salloway 24 , Peter Schofield 25, 26 , John C Morris 1 , Randall J Bateman 1 , Jason Hassenstab 1 , 1
Affiliation  

Although some members of families with autosomal dominant Alzheimer's disease mutations learn their mutation status, most do not. How knowledge of mutation status affects clinical disease progression is unknown. This study quantifies the influence of mutation awareness on clinical symptoms, cognition, and biomarkers.

中文翻译:


显性遗传性阿尔茨海默病网络 (DIAN) 中的遗传风险意识



尽管患有常染色体显性阿尔茨海默病突变的一些家庭成员知道他们的突变状态,但大多数人却没有。突变状态的知识如何影响临床疾病进展尚不清楚。这项研究量化了突变意识对临床症状、认知和生物标志物的影响。
更新日期:2020-01-01
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