Article
A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.
Annals of neurology - 1 Oct 2005
Obici Laura, Demarchi Andrea, de Rosa Giulia, Bellotti Vittorio, Marciano Sabrina, Donadei Simona, Arbustini Eloisa, Palladini Giovanni, Diegoli Marta, Genovese Egidio, Ferrari Giancarlo, Coverlizza Sergio, Merlini Giampaolo
Abstract excerpt
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...
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