Article
The Rise of the GRN C157KfsX97 Mutation in Southern Italy: Going Back to the Fall of the Western Roman Empire.
Journal of Alzheimer's disease : JAD - 1 Jan 2020
Coppola Cinzia, Saracino Dario, Oliva Mariano, Puoti Gianfranco, Lus Giacomo, Le Ber Isabelle, Pariente Jérémie, Tessitore Alessandro, Benussi Luisa, Ghidoni Roberta, Carrara Matteo, Ricci Martina, Redaelli Veronica, Tiraboschi Pietro, Caroppo Paola, Giaccone Giorgio, Bonavita Simona, Rossi Giacomina
Abstract excerpt
BACKGROUND: Frontotemporal lobar degeneration (FTLD) designates a group of neurodegenerative diseases with remarkable clinical, pathological, and genetic heterogeneity. Mutations in progranulin gene (GRN) are among the most common causes of familial FTLD. The GRN C157KfsX97 mutation is the most frequent mutation occurring in Southern Italy and has been already described in a previous work. OBJECTIVE: In this...
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