title: Sequence analysis of tau in familial and sporadic progressive supranuclear palsy.
abstract: Progressive supranuclear palsy (PSP) is a tau deposition neurodegenerative disorder which usually occurs in sporadic form and is associated with a common variant of the tau gene. Rare familial forms of PSP have been described. Recently familial frontotemporal dementia linked to chromosome 17 (FTDP-17) has been shown to be due to mutations in tau and there may be a clinical and pathological overlap between PSP and FTDP-17. In this study we have analysed the tau sequence in two small families with PSP, and a number of clinically typical and atypical sporadic cases with pathological confirmation of the diagnosis. The tau mutations described in FTDP-17 were not found in the most clinically diagnosed patients with PSP. This suggests that usually FTDP-17 and PSP, including the rare familial form of PSP, are likely to be separate conditions and that usually PSP and typical PSP-like syndromes are not due to mutations in tau.
authors.affiliation: University Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1NBG, UK.
authors.forename: H R
authors.initials: HR
authors.lastname: Morris
authors.forename: R
authors.initials: R
authors.lastname: Katzenschlager
authors.forename: J C
authors.initials: JC
authors.lastname: Janssen
authors.forename: J M
authors.initials: JM
authors.lastname: Brown
authors.forename: M
authors.initials: M
authors.lastname: Ozansoy
authors.forename: N
authors.initials: N
authors.lastname: Quinn
authors.forename: T
authors.initials: T
authors.lastname: Revesz
authors.forename: M N
authors.initials: MN
authors.lastname: Rossor
authors.forename: S E
authors.initials: SE
authors.lastname: Daniel
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: A J
authors.initials: AJ
authors.lastname: Lees
mesh_terms: D000368:Aged; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis; D003704:Dementia / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017422:Sequence Analysis, DNA; D013494:Supranuclear Palsy, Progressive / Q000175:diagnosis / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins