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

Anastasiu, R
Saini, Krishan
Leuba, G
Published in Experimental neurology. 2000, vol. 161, no. 1, p. 330-335
Abstract 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.
Keywords Binding Sites/geneticsChromosomes, Human, Pair 17DNA Mutational AnalysisDNA PrimersDementia/genetics/pathologyExonsFamily HealthFemaleGenetic HeterogeneityHumansMaleMicrotubules/metabolismMutationPedigreeRNA SplicingSwitzerlandTau Proteins/genetics/metabolism
PMID: 10683298
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Research group Groupe Bouras Constantin (neuropsychiatrie) (1)
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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 https://archive-ouverte.unige.ch/unige:26601

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Deposited on : 2013-03-06

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