Article
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.
Neurobiology of disease - 1 Mar 2009
Benussi Luisa, Ghidoni Roberta, Pegoiani Eleonora, Moretti Davide V, Zanetti Orazio, Binetti Giuliano
Abstract excerpt
Mutations in the progranulin gene (PGRN) are a major cause of frontotemporal lobar degeneration (FTLD). Herein we estimated the contribution of the PGRN Leu271LeufsX10 mutation to FTLD and related disorders in the Brescia cohort. The PGRN Leu271LeufsX10 mutation was found in 31% of corticobasal syndrome (CBS), 29% of frontotemporal dementia with motorneuron disease (FTD-MND), 15% of behavioral variant...
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