Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS
Gijselinck, Ilse × Sleegers, Kristel Engelborghs, Sebastiaan Robberecht, Wim Martin, Jean-Jacques Vandenberghe, Rik Sciot, Raphael Dermaut, Bart Goossens, D van der Zee, Julie De Pooter, Tim Del-Favero, Jurgen Santens, Patrick De Jonghe, Peter De Deyn, Peter P Van Broeckhoven, Christine Cruts, Marc #
Neurobiology of Aging vol:30 issue:8 pages:1329-1331
The nuclear TAR DNA binding protein (TDP-43) is deposited in ubiquitin-positive inclusions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two clinicopathologically overlapping neurodegenerative diseases. In this study we excluded mutations and copy number variations in the gene encoding TDP-43 (TARDBP) from an extended series of 173 FTD and 237 ALS patients. Further, we did not identify association of common genetic variants in these patients. Our data implicate that TDP-43 has no primary genetic role in the pathophysiological mechanisms underlying central nervous system neurodegeneration in these diseases.