Article
Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation.
Neurology - 7 Jun 2016
Van den Bossche Tobi, Sleegers Kristel, Cuyvers Elise, Engelborghs Sebastiaan, Sieben Anne, De Roeck Arne, Van Cauwenberghe Caroline, Vermeulen Steven, Van den Broeck Marleen, Laureys Annelies, Peeters Karin, Mattheijssens Maria, Vandenbulcke Mathieu, Vandenberghe Rik, Martin Jean-Jacques, De Deyn Peter P, Cras Patrick, Van Broeckhoven Christine
Abstract excerpt
OBJECTIVE: To generate a clinical and pathologic phenotype of patients carrying rare loss-of-function mutations in ABCA7, identified in a Belgian Alzheimer patient cohort and in an autosomal dominant family. METHODS: We performed a retrospective review of available data records, medical records, results of CSF analyses and neuroimaging studies, and neuropathology data. RESULTS: The mean onset age of the mutation...
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