title: [Genetic tau-variants in patients with frontotemporal dementia].
abstract: OBJECTIVE
  [corrected] To evaluate tau-associated genetic polymorphisms in patients with sporadic frontotemporal dementia (FTD) and healthy control subjects.
  
  
  METHODS
  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.
authors.affiliation: Klinik und Poliklinik für Psychiatrie und Psychotherapie der Universität Regensburg am Bezirksklinikum. bernd.ibach@medbo.de
authors.forename: Bernd
authors.initials: B
authors.lastname: Ibach
authors.forename: Markus
authors.initials: M
authors.lastname: Wittmann
authors.forename: Frank
authors.initials: F
authors.lastname: Pfannenschmid
authors.forename: Stefan
authors.initials: S
authors.lastname: Poljansky
authors.forename: Ekkehard
authors.initials: E
authors.lastname: Haen
authors.forename: Göran
authors.initials: G
authors.lastname: Hajak
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D003704:Dementia / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D017422:Sequence Analysis, DNA; D024801:Tauopathies / Q000175:diagnosis / Q000235:genetics*; D016875:tau Proteins
chemical_list: C054369:MAPT protein, human; D009419:Nerve Tissue Proteins; D016875:tau Proteins