No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. Exonic resequencing of TIA1 in 1120 patients (693 FTD, 341 ALS, 86 FTD-ALS) and 1039 controls identified in total five rare heterozygous missense variants, affecting the TIA1 low-complexity domain (LCD). Only one missense variant, p.Met290Thr, identified in a familial FTD patient with disease onset at 64 years, was absent from controls yet received a CADD score of 11.42.

Source: Neurobiology of Aging - May 14, 2018 Category: Neuroscience Authors: Yalda Baradaran-Heravi, Lubina Dillen, Hung Phuoc Nguyen, Sara Van Mossevelde, Jonathan Baets, Peter De Jonghe, Sebastiaan Engelborghs, Peter P. De Deyn, Mathieu Vandenbulcke, Rik Vandenberghe, Philip Van Damme, Patrick Cras, Eric Salmon, Matthis Synofzik Tags: Negative results Source Type: research