Chromosome 17 in Fronto Temporal Lobak Degeneration (FTLD): From MAPT to Progranulin and Back
A. Alberici, M. Cosseddu, A. Padovani and B. Borroni
Affiliation: Clinic of Neurology, Spedali Civili, University of Brescia, P.zzale Spedali Civili 1, 25100 Brescia, Italy.
Frontotemporal Lobar degeneration (FTLD) is one of the most important neurodegenerative conditions, affecting in the presenium, but more recently recognized also in aged population. The strong genetic background, along with autopsy determinations prompted the identification of the two major genes associated to the disease: MAPT gene, and Progranulin (PGRN) gene. In this review, we highlighted the milestones of these discoveries, and their implication for the development of future therapeuthical approaches.
Keywords: Fronto temporal lobak degeneration, MAPT, progranulin, DLDH, PNFA, CBS, PSP, frontal atrophy, FTLD-MND, CHMP2B, language dysfunction, (TAR)-DNA-binding, NCI, ALS
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