Mutations in progranulin gene (GRN) are a common cause of autosomal dominant frontotemporal lobar degeneration and are associated with a wide phenotypic heterogeneity. Here, we describe two probands with behavioral variant frontotemporal dementia with a novel mutation in this gene (1159-1160delTG). Both had a positive family history for dementia and showed atypical features at imaging. Their progranulin plasma levels were undetectable, and the mutation was not present in cDNA, suggesting haploinsufficiency. Progranulin levels were low even in asymptomatic carriers of the variant. Results described enlarge current knowledge on genetic causes of the disease and clinical characteristics of carriers.

The novel GRN g.1159-1160delTG mutation is associated with behavioral variant frontotemporal dementia / A. Calvi, S.M.G. Cioffi, P. Caffarra, C. Fenoglio, M. Serpente, A.M. Pietroboni, A. Arighi, L. Ghezzi, S. Gardini, E. Scarpini, D. Galimberti. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - 44:1(2015), pp. 277-282. [10.3233/JAD-141380]

The novel GRN g.1159-1160delTG mutation is associated with behavioral variant frontotemporal dementia

A. Calvi
;
C. Fenoglio;M. Serpente;A.M. Pietroboni;A. Arighi;L. Ghezzi;E. Scarpini
Penultimo
;
D. Galimberti
Ultimo
2015

Abstract

Mutations in progranulin gene (GRN) are a common cause of autosomal dominant frontotemporal lobar degeneration and are associated with a wide phenotypic heterogeneity. Here, we describe two probands with behavioral variant frontotemporal dementia with a novel mutation in this gene (1159-1160delTG). Both had a positive family history for dementia and showed atypical features at imaging. Their progranulin plasma levels were undetectable, and the mutation was not present in cDNA, suggesting haploinsufficiency. Progranulin levels were low even in asymptomatic carriers of the variant. Results described enlarge current knowledge on genetic causes of the disease and clinical characteristics of carriers.
Deletion; Frontotemporal dementia; Haploinsufficiency; Mutation; Progranulin (GRN); Aged; DNA Mutational Analysis; Frontotemporal Dementia; Humans; Image Processing, Computer-Assisted; Intercellular Signaling Peptides and Proteins; Magnetic Resonance Imaging; Male; Mental Disorders; Mutation; Psychiatry and Mental Health; Geriatrics and Gerontology; Clinical Psychology; Medicine (all)
Settore MED/26 - Neurologia
Settore BIO/13 - Biologia Applicata
2015
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/341207
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