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Updated: Aug 15, 2026

Imaging the Intracellular Trafficking of APP with Photoactivatable GFP
Published on: October 17, 2015
A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy
Laura Obici1, Andrea Demarchi, Giulia de Rosa
1Amyloid Center, Biotechnology Research Laboratories, IRCCS Policlinico San Matteo, Pavia, Italy.
Abstract:
Mutations in AbetaPP cause deposition of Abeta amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Abeta sequence of AbetaPP in a family with autosomal dominant, recurrent intracerebral hemorrhages. Pathological examination disclosed severe CAA, without parenchymal amyloid plaques or neurofibrillary tangles. This variant highlights the vascular tropism of mutated Abeta, resulting in CAA instead of the pathological hallmarks of AD.
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