Article
Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum.
Brain : a journal of neurology - 19 Apr 2023
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
Abstract excerpt
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 28 p.R406W patients. Over 18 years follow-up, we extended the family with 10 p.R406W carriers and provided an in-depth...
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