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Guerreiro, Rita; Wojtas, Aleksandra; Bras, Jose; Carrasquillo, Minerva; Rogaeva, Ekaterina; Majounie, Elisa; Cruchaga, Carlos; Sassi, Celeste; Kauwe, John S.K; Younkin, Steven; Hazrati, Lilinaz; Collinge, John; Pocock, Jennifer; Lashley, Tammaryn; Williams, Julie; Lambert, Jean-Charles; Amouyel, Philippe; Goate, Alison; Rademakers, Rosa; Morgan, Kevin; Powell, John; St. George-Hyslop, Peter; Singleton, Andrew; Hardy, John
New England journal of medicine/The New England journal of medicine, 01/2013, Volume: 368, Issue: 2Journal Article
This study shows that variants in TREM2 are a rare cause of Alzheimer's disease and underscores the role of the microglial cell in the disease mechanism and as a potential target for therapy. Alzheimer's disease is the most common cause of dementia, typically presenting with a progressive loss of cognitive function and memory. It is a complex disorder with a strong genetic component. In the past, genetic studies have identified mutations in three genes — APP (encoding amyloid precursor protein), PSEN1 (encoding presenilin 1), and PSEN2 (encoding presenilin 2) — as the cause of disease in several families, most of whom have early-onset disease. Expansions in C9orf72 are found in families with mixed types of disease. In late-onset disease, the most common form of Alzheimer's disease, the ε4 allele of the apolipoprotein E . . .
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