Helena Gossye, Sara Van Mossevelde, Anne Sieben, Maria Bjerke, Elisabeth Hendrickx Van de Craen, Julie van der Zee, Peter P De Deyn, Jan De Bleecker, Jan Versijpt, Jenneke van den Ende, Olivier Deryck, Paul Bourgeois, Jean Christophe Bier, Maarten Goethals, Rik Vandenberghe, Sebastiaan Engelborghs, Christine Van Broeckhoven
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, labeled 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 clinical description of the patients. Additionally, genetic screening was used to identify p.R406W carriers in Belgian cohorts of frontotemporal dementia and Alzheimer's disease patients and to calculate p...
September 29, 2022: Brain