Article
Cortical atrophy and language network reorganization associated with a novel progranulin mutation.
Cerebral cortex (New York, N.Y. : 1991) - 1 Aug 2009
Cruchaga Carlos, Fernández-Seara Maria A, Seijo-Martínez Manuel, Samaranch Lluis, Lorenzo Elena, Hinrichs Anthony, Irigoyen Jaione, Maestro Cristina, Prieto Elena, Martí-Climent Josep M, Arbizu Javier, Pastor Maria A, Pastor Pau
Abstract excerpt
Progressive nonfluent aphasia (PNFA) is an early stage of frontotemporal degeneration. We identified a novel Cys521Tyr progranulin gene variant in a PNFA family that potentially disrupts disulphide bridging causing protein misfolding. To identify early neurodegeneration changes, we performed neuropsychological and neuroimaging studies in 6 family members (MRI [magnetic resonance imaging], fMRI [functional MRI],...
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