Genetic tau-variants in patients with frontotemporal dementia

Ibach, Bernd and Wittmann, Markus and Pfannenschmid, Frank and Poljansky, Stefan and Haen, Ekkehard and Hajak, Goeran (2004) Genetic tau-variants in patients with frontotemporal dementia. PSYCHIATRISCHE PRAXIS, 31. S55-S57. ISSN 0303-4259,

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Abstract

Objevctive: To evaluate tau-associated genetic polymorphisms in patients with sporadic frontotemporal dementia (FTD) and healthy control subjects. Method: Tau-gene sequence of 30 patients with FTD and 30 healthy controls was analysed by polymerase-chain-reaction (PCR). Subsequent sequencing was performed to identify exonic and intronic differences between both groups. Results: The following polypmorphisms, which are localized closely to each exon-intron-border, have been identified: In 37% (n = 11) of the control subjects three different intronic polymorphisms occur simultaneously (Intron 2, 263, C --> Y; Intron 3, 590, A --> R; Intron 11,150, G --> A). In the FTD group, this coexistance has been observed only in 17% (n = 5). Conclusions: In how far there exists a significant correlation between the newly identified triple polymorphism in the Tau gene and an alternated risk for FTD must be evaluated in a lager population. The proximity of these polymorphisms to the exon-intron border would facilitate functional influences on gene expression patterns. These preliminary results described, above potentially point to further pathogenetic factors in the genesis of FTD.

Item Type: Article
Uncontrolled Keywords: LOBAR DEGENERATION; DISEASE; SEVERITY;
Subjects: 600 Technology > 610 Medical sciences Medicine
Divisions: Medicine > Lehrstuhl für Psychiatrie und Psychotherapie
Depositing User: Dr. Gernot Deinzer
Date Deposited: 25 Jun 2021 09:46
Last Modified: 25 Jun 2021 09:46
URI: https://pred.uni-regensburg.de/id/eprint/37028

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