title: Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia.
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.
authors.affiliation: Division of Neuropsychiatry, Department of Psychiatry, University of Geneva School of Medecine, Chêne-Bourg, Geneva, CH-1225, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Savioz
authors.forename: E
authors.initials: E
authors.lastname: Kövari
authors.forename: R
authors.initials: R
authors.lastname: Anastasiu
authors.forename: C
authors.initials: C
authors.lastname: Rossier
authors.forename: K
authors.initials: K
authors.lastname: Saini
authors.forename: C
authors.initials: C
authors.lastname: Bouras
authors.forename: G
authors.initials: G
authors.lastname: Leuba
mesh_terms: D001665:Binding Sites / Q000235:genetics; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis; D017931:DNA Primers; D003704:Dementia / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005192:Family Health; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008870:Microtubules / Q000378:metabolism; D009154:Mutation; D010375:Pedigree; D012326:RNA Splicing; D013557:Switzerland; D016875:tau Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D017931:DNA Primers; D016875:tau Proteins