Novel missense progranulin gene mutation associated with the semantic variant of primary progressive aphasia
Articolo
Data di Pubblicazione:
2013
Citazione:
Novel missense progranulin gene mutation associated with the semantic variant of primary progressive aphasia / C. Cerami, A. Marcone, D. Galimberti, C. Villa, C. Fenoglio, E. Scarpini, S.F. Cappa. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - 36:3(2013), pp. 415-420. [10.3233/JAD-130317]
Abstract:
Progranulin (GRN) mutations are typically associated with the behavioral variant of frontotemporal dementia and the non-fluent variant of primary progressive aphasia phenotypes. Hereby, we describe a patient affected by semantic variant of primary progressive aphasia (svPPA) with a highly positive family history of dementia, carrying a novel GRN missense variation in exon 11 [g.2897 C > T (p.Thr409Met)], predicted in silico to be damaging to protein structure and function. The variant was absent in 175 frontotemporal lobar degeneration (FTLD) patients and in 38 healthy subjects. This case confirms that GRN represents one of the most frequent FTLD genetic causes, suggesting that a screening is indicated in the case of svPPA presentation.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Frontotemporal lobar degeneration; GRN mutation; semantic variant of primary progressive aphasia; Aphasia, Primary Progressive; Frontotemporal Lobar Degeneration; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Intercellular Signaling Peptides and Proteins; Male; Middle Aged; Mutation, Missense; Psychiatry and Mental Health; Geriatrics and Gerontology; Clinical Psychology
Elenco autori:
C. Cerami, A. Marcone, D. Galimberti, C. Villa, C. Fenoglio, E. Scarpini, S.F. Cappa
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