title: 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: Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Belgium.
authors: Ilse
authors: I
authors: Gijselinck
authors: Kristel
authors: K
authors: Sleegers
authors: Sebastiaan
authors: S
authors: Engelborghs
authors: Wim
authors: W
authors: Robberecht
authors: Jean-Jacques
authors: JJ
authors: Martin
authors: Rik
authors: R
authors: Vandenberghe
authors: Raf
authors: R
authors: Sciot
authors: Bart
authors: B
authors: Dermaut
authors: Dirk
authors: D
authors: Goossens
authors: Julie
authors: J
authors: van der Zee
authors: Tim
authors: T
authors: De Pooter
authors: Jurgen
authors: J
authors: Del-Favero
authors: Patrick
authors: P
authors: Santens
authors: Peter
authors: P
authors: De Jonghe
authors: Peter P
authors: PP
authors: De Deyn
authors: Christine
authors: C
authors: Van Broeckhoven
authors: Marc
authors: M
authors: Cruts
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D003704:Dementia / Q000235:genetics*; D018628:Gene Dosage; D005787:Gene Frequency; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D004268:DNA-Binding Proteins