title: Frontotemporal Dementia due to the Novel GRN Arg161GlyfsX36 Mutation.
abstract: 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 6 (g.10338_39delAG, p.Arg161GlyfsX36). Plasma progranulin levels were significantly reduced and in silico analysis predicted a premature termination codon. This case expands our knowledge on GRN mutations in frontotemporal dementia.
authors.affiliation: Department of Clinical and Experimental Sciences, Neurology Unit, University of Brescia, Brescia, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Gazzina
authors.affiliation: Department of Diagnostics, Biotechnology Laboratory, Brescia Hospital, Brescia, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Archetti
authors.affiliation: Department of Clinical and Experimental Sciences, Neurology Unit, University of Brescia, Brescia, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Alberici
authors.affiliation: Department of Clinical and Experimental Sciences, Neurology Unit, University of Brescia, Brescia, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Bonomi
authors.affiliation: Department of Clinical and Experimental Sciences, Neurology Unit, University of Brescia, Brescia, Italy.
authors.forename: Maura
authors.initials: M
authors.lastname: Cosseddu
authors.affiliation: Department of Diagnostics, Biotechnology Laboratory, Brescia Hospital, Brescia, Italy.
authors.forename: Diego
authors.initials: D
authors.lastname: Di Lorenzo
authors.affiliation: Department of Clinical and Experimental Sciences, Neurology Unit, University of Brescia, Brescia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Padovani
authors.affiliation: Department of Clinical and Experimental Sciences, Neurology Unit, University of Brescia, Brescia, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Borroni
mesh_terms: D018888:Aphasia, Primary Progressive / Q000097:blood / Q000134:cerebrospinal fluid / Q000000981:diagnostic imaging / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging; D057180:Frontotemporal Dementia / Q000097:blood / Q000134:cerebrospinal fluid / Q000000981:diagnostic imaging / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000077153:Progranulins
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins
keywords: Frontotemporal dementia; granulin; mutation; progranulin