Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS.
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.
Gijselinck
Ilse
I
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Belgium.
Sleegers
Kristel
K
Engelborghs
Sebastiaan
S
Robberecht
Wim
W
Martin
Jean-Jacques
JJ
Vandenberghe
Rik
R
Sciot
Raf
R
Dermaut
Bart
B
Goossens
Dirk
D
van der Zee
Julie
J
De Pooter
Tim
T
Del-Favero
Jurgen
J
Santens
Patrick
P
De Jonghe
Peter
P
De Deyn
Peter P
PP
Van Broeckhoven
Christine
C
Cruts
Marc
M
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
D004268:DNA-Binding Proteins