Article
Frontotemporal Dementia due to the Novel GRN Arg161GlyfsX36 Mutation.
Journal of Alzheimer's disease : JAD - 1 Jan 2017
Gazzina Stefano, Archetti Silvana, Alberici Antonella, Bonomi Elisa, Cosseddu Maura, Di Lorenzo Diego, Padovani Alessandro, Borroni Barbara
Abstract excerpt
Progranulin is a multifunctional growth factor mainly expressed in neurons and microglia. Loss-of-function mutations in the Granulin (GRN) gene are causative of frontotemporal dementia with TAR DNA-binding protein-43 inclusions. We reported the case of a 51-year-old male patient affected by sporadic agrammatic variant of primary progressive aphasia, in whom we identified a novel heterozygous deletion in the exon...
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