No association of TDP-43 with sporadic frontotemporal dementia.
A hyperphosphorylated, ubiquitinated form of TDP-43, known as pathologic TDP-43, was shown to be a central component of ubiquitin-positive, tau-negative and alpha-synuclein-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amytrophic lateral sclerosis (ALS). To investigate the role of the TDP-43 gene in sporadic forms of frontotemporal dementia (FTD), we genotyped 10 single nucleotide polymorphisms covering the entire TDP-43 genomic region, including the MASP2 gene in 173 patients with sporadic FTD (including 7 patients that were diagnosed with FTD and ALS) and 184 matched controls from Germany. Although we could observe a weak trend towards a potential disease association in a few FTD/ALS patients, no significant association with sporadic FTD could be demonstrated. There is no evidence, that common variants in TDP-43 confer a strong risk to the development of sporadic FTD.
Schumacher
Axel
A
Laboratory of Neurochemistry and Neurogenetics, Department of Psychiatry and Psychotherapy, Ismanigerstr. 22, TU-Munich, 81675 Munich, Germany.
Friedrich
Patricia
P
Diehl-Schmid
Janine
J
Ibach
Bernd
B
Perneczky
Robert
R
Eisele
Tamara
T
Vukovich
Ruth
R
Foerstl
Hans
H
Riemenschneider
Matthias
M
D004268:DNA-Binding Proteins / Q000235:genetics*; D003704:Dementia / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005858:Germany / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
D004268:DNA-Binding Proteins