title: A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration.
abstract: Cortico-basal syndrome (CBS) is a rare neurodegenerative disease characterised by movement and cognitive disorders. It occurs along the spectrum of fronto-temporal lobar degeneration (FTLD), which also includes fronto-temporal dementia (FTD) and progressive supranuclear palsy (PSP). FTLD has recently been shown to be associated with mutations in GRN gene, coding for progranulin, a multifunctional secreted glycoprotein involved in cell cycle, inflammation and tissue repair. We describe the case of a 73-year-old man suffering from CBS with a family history of cognitive disorders belonging to the clinical spectrum of FTLD. Sequencing analysis of GRN in this patient revealed that the C157KfsX97 null mutation has been already described by Le Ber et al. in a French patient affected by an apparently sporadic form of FTD. This report confirms the variability of clinical phenotypes associated with the same mutation and emphasises the importance of genetic analysis in cases with a clear familiarity, as well as in apparently sporadic forms.
authors.affiliation: First Division of Neurology of the Second University of Naples, Isola 8-Edificio 10 Policlinico "Federico II" via Pansini 5, 80131 Naples, Italy. cinzia.coppola@unina2.it
authors.forename: Cinzia
authors.initials: C
authors.lastname: Coppola
authors.forename: Giacomina
authors.initials: G
authors.lastname: Rossi
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Barbarulo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Di Fede
authors.forename: Carolina
authors.initials: C
authors.lastname: Foglia
authors.forename: Elena
authors.initials: E
authors.lastname: Piccoli
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Piscosquito
authors.forename: Dario
authors.initials: D
authors.lastname: Saracino
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Tagliavini
authors.forename: Roberto
authors.initials: R
authors.lastname: Cotrufo
mesh_terms: D000368:Aged; D003072:Cognition Disorders / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D007558:Italy; D008297:Male; D009069:Movement Disorders / Q000235:genetics*; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000235:genetics*; D009483:Neuropsychological Tests; D010375:Pedigree; D000077153:Progranulins; D013577:Syndrome
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins