title: GRN Thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with Lewy bodies phenotype.
abstract: We describe a case of late onset frontotemporal dementia carrying the g.1977_1980 delCACT (Thr272fs) mutation in progranulin (GRN) gene, characterized by a positive family history for dementia and a clinical phenotype resembling dementia with Lewy bodies. Symptoms included prominent visuospatial impairment, complex misidentification syndrome, visual zooptic hallucinations, hypersomnia, mental fluctuations, and signs of parkinsonism. The patient showed normal cerebrospinal fluid levels of amyloid-β, tau, and Ptau biomarkers, an asymmetric pattern of cerebral atrophy and hypoperfusion, and parietal hypometabolism. A major contributing factor to the diagnosis was the testing of plasmatic progranulin levels (extremely low), which prompted us to sequence GRN.
authors.affiliation: Geriatric Unit, University of Milan, Fondazione Cá Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy. beatrice.arosio@unimi.it
authors.forename: Beatrice
authors.initials: B
authors.lastname: Arosio
authors.forename: Carlo
authors.initials: C
authors.lastname: Abbate
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.forename: Paolo Dionigi
authors.initials: PD
authors.lastname: Rossi
authors.forename: Silvia
authors.initials: S
authors.lastname: Inglese
authors.forename: Chiara
authors.initials: C
authors.lastname: Fenoglio
authors.forename: Elisa
authors.initials: E
authors.lastname: Ridolfi
authors.forename: Cristina
authors.initials: C
authors.lastname: Gussago
authors.forename: Martina
authors.initials: M
authors.lastname: Casati
authors.forename: Enzo
authors.initials: E
authors.lastname: Tedone
authors.forename: Evelyn
authors.initials: E
authors.lastname: Ferri
authors.forename: Maria
authors.initials: M
authors.lastname: Serpente
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.forename: Daniela
authors.initials: D
authors.lastname: Mari
mesh_terms: D017668:Age of Onset; D000368:Aged; D001288:Attention / Q000502:physiology; D003062:Codon; D056344:Executive Function; D005091:Exons; D005260:Female; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D020961:Lewy Body Disease / Q000235:genetics* / Q000473:pathology* / Q000523:psychology; D008568:Memory / Q000502:physiology; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D010375:Pedigree; D000077153:Progranulins; D011597:Psychomotor Performance / Q000502:physiology
chemical_list: D003062:Codon; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins