Schumacher, Axel and Friedrich, Patricia and Diehl-Schmid, Janine and Ibach, Bernd and Perneczky, Robert and Eisele, Tamara and Vukovich, Ruth and Foerstl, Hans and Riemenschneider, Matthias (2009) No association of TDP-43 with sporadic frontotemporal dementia. NEUROBIOLOGY OF AGING, 30 (1). pp. 157-159. ISSN 0197-4580, 1558-1497
Full text not available from this repository. (Request a copy)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 (FFD), 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. (C) 2007 Elsevier Inc. All rights reserved.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | AMYOTROPHIC-LATERAL-SCLEROSIS; LOBAR DEGENERATION; MUTATIONS; TAU; DISEASE; TDP-43; MASP2; Frontotemporal dementia; Genetic analysis; Association study; Amytrophic lateral sclerosis |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Psychiatrie und Psychotherapie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 13 Oct 2020 08:15 |
| Last Modified: | 13 Oct 2020 08:15 |
| URI: | https://pred.uni-regensburg.de/id/eprint/29818 |
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