title: No association of TDP-43 with sporadic frontotemporal dementia.
abstract: 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.
authors.affiliation: Laboratory of Neurochemistry and Neurogenetics, Department of Psychiatry and Psychotherapy, Ismanigerstr. 22, TU-Munich, 81675 Munich, Germany.
authors.forename: Axel
authors.initials: A
authors.lastname: Schumacher
authors.forename: Patricia
authors.initials: P
authors.lastname: Friedrich
authors.forename: Janine
authors.initials: J
authors.lastname: Diehl-Schmid
authors.forename: Bernd
authors.initials: B
authors.lastname: Ibach
authors.forename: Robert
authors.initials: R
authors.lastname: Perneczky
authors.forename: Tamara
authors.initials: T
authors.lastname: Eisele
authors.forename: Ruth
authors.initials: R
authors.lastname: Vukovich
authors.forename: Hans
authors.initials: H
authors.lastname: Foerstl
authors.forename: Matthias
authors.initials: M
authors.lastname: Riemenschneider
mesh_terms: 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
chemical_list: D004268:DNA-Binding Proteins