Article
The novel GRN g.1159_1160delTG mutation is associated with behavioral variant frontotemporal dementia.
Journal of Alzheimer's disease : JAD - 1 Jan 2015
Calvi Alberto, Cioffi Sara M G, Caffarra Paolo, Fenoglio Chiara, Serpente Maria, Pietroboni Anna M, Arighi Andrea, Ghezzi Laura, Gardini Simona, Scarpini Elio, Galimberti Daniela
Abstract excerpt
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...
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