Article
Evidence that Abeta42 plasma levels in presenilin-1 mutation carriers do not allow for prediction of their clinical phenotype.
Neurobiology of disease - 1 Aug 1999
De Jonghe C, Cras P, Vanderstichele H, Cruts M, Vanderhoeven I, Smouts I, Vanmechelen E, Martin J J, Hendriks L, Van Broeckhoven C
Abstract excerpt
Mutations in the presenilin 1 (PSEN1) gene are an important cause of autosomal dominant Alzheimer's disease (AD). Both in vitro and in vivo experiments showed that PSEN1 mutations increase secretion of amyloid beta42 (Abeta42), the longer and more fibrillogenic isoform of Abeta. We measured secreted Abeta42 in plasma of patients, presymptomatic mutation carriers, and escapees of two extended Belgian early-onset...
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