Title: Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS
Authors: 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 #
Issue Date: Aug-2009
Publisher: Elsevier
Series Title: Neurobiology of Aging vol:30 issue:8 pages:1329-1331
Abstract: 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.
ISSN: 0197-4580
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Translational Cell & Tissue Research
Laboratory for Cognitive Neurology
Laboratory for Neurobiology (Vesalius Research Center)
× corresponding author
# (joint) last author

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