TARDBP p.I383V, a recurrent alteration in Greek FTD patients

A significant proportion of FTD (Frontotemporal Degeneration) cases can be attributed to mutations in major genes such as GRN, MAPT and C9orf72. Our previous report on a Greek FTD cohort revealed the presence of the single nucleotide polymorphism (SNP) p.I383V (rs80356740) in the TARDBP gene in three unrelated patients. Our objective was to develop a novel, fast and accurate method for the detection of this particular SNP and evaluate the assay in a larger cohort.

Source: Journal of the Neurological Sciences - July 3, 2021 Category: Neurology Authors: Eirini Charoniti, Vasiliki Papastefanopoulou, Chryseis Florou-Hatziyiannidou, Christos Koros, Evangelia Stanitsa, John D. Papatriantafyllou, Sokratis G. Papageorgiou, Christos Kroupis Source Type: research