Details

Autor(en) / Beteiligte

• 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

Titel

TREM2 Variants in Alzheimer's Disease

Ist Teil von

• The New England journal of medicine, 2013-01, Vol.368 (2), p.117-127

Ort / Verlag

Waltham, MA: Massachusetts Medical Society

Erscheinungsjahr

2013

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 . . .