Scientific article

Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia

Published inExperimental neurology, vol. 161, no. 1, p. 330-335
Publication date2000

Frontotemporal dementia (FTD) is considered to have a heterogeneous aetiology. To date the tau gene located on chromosome 17 has been shown to be implicated in the pathogenesis of several FTD families with parkinsonism, the so called FTDP-17 families. The mutations reported so far are located within exons 9 to 13, a region coding for the microtubule-binding sites. They are causing various cytoskeletal disturbances. We are describing here the main clinical and neuropathological features of a Swiss FTD family with members presenting a FTDP-like clinical phenotype. However, if we except two silent polymorphic sites at position 227 and 255 in exon 9, neither a known FTDP-17 mutation nor a novel one was detected in this region of the tau gene. Thus, the existence of a yet unknown mechanism of neurodegeneration, other than via mutations near or within the microtubule-binding sites, or the exon 10 splice sites of the tau gene, has to be considered to explain dementia in this family. A mutation in another gene is still possible.

  • Binding Sites/genetics
  • Chromosomes, Human, Pair 17
  • DNA Mutational Analysis
  • DNA Primers
  • Dementia/genetics/pathology
  • Exons
  • Family Health
  • Female
  • Genetic Heterogeneity
  • Humans
  • Male
  • Microtubules/metabolism
  • Mutation
  • Pedigree
  • RNA Splicing
  • Switzerland
  • Tau Proteins/genetics/metabolism
Citation (ISO format)
SAVIOZ, Armand et al. Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia. In: Experimental neurology, 2000, vol. 161, n° 1, p. 330–335. doi: 10.1006/exnr.1999.7263
Main files (1)
Article (Published version)
ISSN of the journal0014-4886

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