Progranulin Genetic Screening in Frontotemporal Lobar Degeneration Patients From Central Italy

摘要: Recently, mutations in the progranulin gene (GRN) were reported to account for vast majority of Frontotemporal lobar Degeneration (FTLD) and a growing number reports describe implication this development FTLD pathology with significant variation clinical features. To better clarify contribution GRN Italian FTLD, we screened 381 subjects: 171 cases 210 healthy subjects, all from Central Italy, particularly Tuscan origins. was analyzed using High Resolution Melting Analysis automated Genetic Analyzer. Human Progranulin ELISA Kit employed determine plasma levels. The screening showed total six genetic variants gene: 3 pathogenic non 13 out patients. rare intronic variant IVS2 +7 G > A found one patient. pathogenetic mutation, p.T272SfsX10, is confirmed as most common mutation patients frequency our study 2.32%. Moreover, identified first patient p.R493X date described 43 families worldwide. Our data report, time, occurrence Tuscany, confirming that variations could be considerable cause might useful both familial sporadic