Title
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Fayetteville, N.Y. ,
Source (journal)
Neurobiology of aging. - Fayetteville, N.Y.
Volume/pages
30(2009) :8 , p. 1329-1331
ISSN
0197-4580
ISI
000267529500018
General
doi:10.1016/j.neurobiolaging.2007.11.002
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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.
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Handle