Article
The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions.
European journal of human genetics : EJHG - 1 Nov 2010
Keller Lina, Welander Hedvig, Chiang Huei-Hsin, Tjernberg Lars O, Nennesmo Inger, Wallin Asa K, Graff Caroline
Abstract excerpt
Early-onset dominantly inherited forms of Alzheimer's disease (AD) are rare, but studies of such cases have revealed important information about the disease mechanisms. Importantly, mutations in amyloid precursor protein (APP), presenilin 1 (PSEN1) and PSEN2, alter the APP processing and lead to an increased amyloid β-peptide (Aβ) 42/40 ratio. This, together with other studies on pathogenic mechanisms, show that...
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