Article
Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family.
Alzheimer's research & therapy - 22 Jan 2018
Sieben Anne, Van Mossevelde Sara, Wauters Eline, Engelborghs Sebastiaan, van der Zee Julie, Van Langenhove Tim, Santens Patrick, Praet Marleen, Boon Paul, Miatton Marijke, Van Hoecke Sofie, Vandenbulcke Mathieu, Vandenberghe Rik, Cras Patrick, Cruts Marc, De Deyn Peter Paul, Van Broeckhoven Christine, Martin Jean-Jacques
Abstract excerpt
BACKGROUND: In this paper, we describe the clinical and neuropathological findings of nine members of the Belgian progranulin gene (GRN) founder family. In this family, the loss-of-function mutation IVS1 + 5G > C was identified in 2006. In 2007, a clinical description of the mutation carriers was published that revealed the clinical heterogeneity among IVS1 + 5G > C carriers. We report our comparison of our data...
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