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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 . . .