Article
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.
Brain : a journal of neurology - 1 Mar 2009
Finch NiCole, Baker Matt, Crook Richard, Swanson Katie, Kuntz Karen, Surtees Rebecca, Bisceglio Gina, Rovelet-Lecrux Anne, Boeve Bradley, Petersen Ronald C, Dickson Dennis W, Younkin Steven G, Deramecourt Vincent, Crook Julia, Graff-Radford Neill R, Rademakers Rosa
Abstract excerpt
Mutations in the progranulin gene (GRN) are an important cause of frontotemporal lobar degeneration (FTLD) with ubiquitin and TAR DNA-binding protein 43 (TDP43)-positive pathology. The clinical presentation associated with GRN mutations is heterogeneous and may include clinical probable Alzheimer's disease. All GRN mutations identified thus far cause disease through a uniform disease mechanism, i.e. the loss of...
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