Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS.

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.

• Authors: Ilse Gijselinck, Kristel Sleegers, Sebastiaan Engelborghs, Wim Robberecht, Jean-Jacques Martin, Rik Vandenberghe, Raf Sciot, Bart Dermaut, Dirk Goossens, Julie van der Zee, Tim De Pooter, Jurgen Del-Favero, Patrick Santens, Peter De Jonghe, Peter P De Deyn, Christine Van Broeckhoven, Marc Cruts
• Journal: Neurobiology of aging (Neurobiol Aging) Vol. 30 Issue 8 Pg. 1329-31 (Aug 2009) ISSN: 1558-1497 [Electronic] United States
• PMID: 18068872 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA-Binding Proteins

Topics

• Amyotrophic Lateral Sclerosis (genetics)
• DNA-Binding Proteins (genetics)
• Dementia (genetics)
• Gene Dosage
• Gene Frequency
• Genetic Variation
• Haplotypes
• Humans
• Middle Aged
• Mutation
• Sequence Analysis, DNA