Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation.

Bruni, A C; Momeni, P; Bernardi, L; Tomaino, C; Frangipane, F; Elder, J; Kawarai, T; Sato, C; Pradella, S; Wakutani, Y; Anfossi, M; Gallo, M; Geracitano, S; Costanzo, A; Smirne, N; Curcio, S A M; Mirabelli, M; Puccio, G; Colao, R; Maletta, R G; Kertesz, A; St George-Hyslop, P; Hardy, J; Rogaeva, E

Bruni, A C; Momeni, P; Bernardi, L; Tomaino, C; Frangipane, F; Elder, J; Kawarai, T; Sato, C; Pradella, S; Wakutani, Y; Anfossi, M; Gallo, M; Geracitano, S; Costanzo, A; Smirne, N; Curcio, S A M; Mirabelli, M; Puccio, G; Colao, R; Maletta, R G; Kertesz, A; St George-Hyslop, P; Hardy, J; Rogaeva, E.

Affiliation

Bruni AC; Regional Neurogenetic Centre, Lamezia Terme, CZ, Italy. bruni@arn.it

Neurology ; 69(2): 140-7, 2007 Jul 10.

Article in En | MEDLINE | ID: mdl-17620546

Subject(s)

Dementia/genetics; Genetic Predisposition to Disease/genetics; Intercellular Signaling Peptides and Proteins/genetics; Mutation/genetics; Adult; Age of Onset; Aged; Aged, 80 and over; Chromosomes, Human, Pair 17/genetics; Cohort Studies; DNA Mutational Analysis; Dementia/ethnology; Dementia/metabolism; Female; Gene Frequency; Genetic Carrier Screening/methods; Genetic Markers; Genetic Testing; Genotype; Heterozygote; Humans; Italy/ethnology; Male; Middle Aged; Pedigree; Progranulins

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Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Dementia / Intercellular Signaling Peptides and Proteins / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Neurology Year: 2007 Type: Article Affiliation country: Italy

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