A novel AβPP mutation exclusively associated with cerebral amyloid angiopathy

Laura Obici, Andrea Demarchi, Giulia De Rosa, Vittorio Bellotti, Sabrina Marciano, Simona Donadei, Eloisa Arbustini, Giovanni Palladini, Marta Diegoli, Egidio Genovese, Giancarlo Ferrari, Sergio Coverlizza, Giampaolo Merlini

Research output: Contribution to journalArticle

Abstract

Mutations in AβPP cause deposition of Aβ 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 Aβ sequence of AβPP 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 Aβ, resulting in CAA instead of the pathological hallmarks of AD.

Original languageEnglish
Pages (from-to)639-644
Number of pages6
JournalAnnals of Neurology
Volume58
Issue number4
DOIs
Publication statusPublished - Oct 2005

ASJC Scopus subject areas

  • Neuroscience(all)

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  • Cite this

    Obici, L., Demarchi, A., De Rosa, G., Bellotti, V., Marciano, S., Donadei, S., Arbustini, E., Palladini, G., Diegoli, M., Genovese, E., Ferrari, G., Coverlizza, S., & Merlini, G. (2005). A novel AβPP mutation exclusively associated with cerebral amyloid angiopathy. Annals of Neurology, 58(4), 639-644. https://doi.org/10.1002/ana.20571