Article
APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.
Journal of Alzheimer's disease : JAD - 1 Jan 2017
Sellal François, Wallon David, Martinez-Almoyna Laurent, Marelli Cecilia, Dhar Abhinav, Oesterlé Héléne, Rovelet-Lecrux Anne, Rousseau Stéphane, Kourkoulis Christina E, Rosand Jon, DiPucchio Zora Y, Frosch Matthew, Gombert Claudine, Audoin Bertrand, Miné Manuèle, Riant Florence, Frebourg Thierry, Hannequin Didier, Campion Dominique, Greenberg Steven M, Tournier-Lasserve Elisabeth, Nicolas Gaël
Abstract excerpt
BACKGROUND: Specific APP mutations cause cerebral amyloid angiopathy (CAA) with or without Alzheimer's disease (AD). OBJECTIVE: We aimed at reporting APP mutations associated with CAA, describe the clinical, cerebrospinal fluid AD biomarkers, and neuroimaging features, and compare them with the data from the literature. METHODS: We performed a retrospective study in two French genetics laboratories by gathering...
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