Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum

Abstract The missense mutation p.R406W in microtubule-associated protein tau leads to frontotemporal lobar degeneration with an amnestic, Alzheimer’s disease-like phenotype with an autosomal dominant pattern of inheritance. In 2003, we described the pedigree of a Belgian family, labelled ADG, with 2...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2023-04, Vol.146 (4), p.1624-1636
Hauptverfasser:	Gossye, Helena, Van Mossevelde, Sara, Sieben, Anne, Bjerke, Maria, Hendrickx Van de Craen, Elisabeth, van der Zee, Julie, De Deyn, Peter P, De Bleecker, Jan, Versijpt, Jan, van den Ende, Jenneke, Deryck, Olivier, Bourgeois, Paul, Bier, Jean-Christophe, Goethals, Maarten, Vandenberghe, Rik, Engelborghs, Sebastiaan, Van Broeckhoven, Christine
Format:	Artikel
Sprache:	eng
Schlagworte:	Alzheimer Disease - diagnostic imaging Alzheimer Disease - genetics Biomarkers Frontotemporal Dementia - diagnostic imaging Frontotemporal Dementia - genetics Frontotemporal Dementia - pathology Frontotemporal Lobar Degeneration - pathology Humans Mutation - genetics Original Phenotype Pick Disease of the Brain tau Proteins - genetics
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