title: No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found.
abstract: Given the remarkable similarities between the genetics of tau diseases and the genetics of alpha-synuclein diseases, and given the fact that we have recently found a triplication of the alpha-synuclein locus in a family in which we had shown linkage to the alpha-synuclein locus, we determined to test whether some of the several families with autosomal dominant frontal temporal dementia which show genetic linkage to the tau locus but in which tau mutations have not been found could be caused by similar structural mutations. We did not find any such mutations.
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 10, Room 6C103, MSC1589, Bethesda, MD 20892, USA.
authors.forename: Janel
authors.initials: J
authors.lastname: Johnson
authors.forename: Jovanka
authors.initials: J
authors.lastname: Ostojic
authors.forename: Lars
authors.initials: L
authors.lastname: Lannfelt
authors.forename: Anna
authors.initials: A
authors.lastname: Glaser
authors.forename: Hans
authors.initials: H
authors.lastname: Basun
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Amalia
authors.initials: A
authors.lastname: Bruni
authors.forename: Peter H
authors.initials: PH
authors.lastname: St  George Hyslop
authors.forename: Alison
authors.initials: A
authors.lastname: Goate
authors.forename: Pau
authors.initials: P
authors.lastname: Pastor
authors.forename: Sumi
authors.initials: S
authors.lastname: Chakraverty
authors.forename: Joanne
authors.initials: J
authors.lastname: Norton
authors.forename: John C
authors.initials: JC
authors.lastname: Morris
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
mesh_terms: D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004252:DNA Mutational Analysis; D003704:Dementia / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D005799:Genes, Dominant; D008040:Genetic Linkage / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D051843:Synucleins; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D051844:alpha-Synuclein; D016875:tau Proteins / Q000235:genetics*
chemical_list: D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D016875:tau Proteins