title: A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.
abstract: Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. In this article, we describe a novel missense mutation, S320F, in the tau gene in a family with presenile dementia. To our knowledge, it is the first mutation to be described in exon 11 of tau. The proband died at age 53 years, after a disease duration of 15 years, and autopsy revealed a neuropathological picture similar to Pick's disease. Recombinant tau protein with the S320F mutation showed a greatly reduced ability to promote microtubule assembly.
authors.affiliation: Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Sonia M
authors.initials: SM
authors.lastname: Rosso
authors.forename: Esther
authors.initials: E
authors.lastname: van Herpen
authors.forename: Wout
authors.initials: W
authors.lastname: Deelen
authors.forename: Wouter
authors.initials: W
authors.lastname: Kamphorst
authors.forename: Lies-Anne
authors.initials: LA
authors.lastname: Severijnen
authors.forename: Rob
authors.initials: R
authors.lastname: Willemsen
authors.forename: Rivka
authors.initials: R
authors.lastname: Ravid
authors.forename: Martinus F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: Dennis
authors.initials: D
authors.lastname: Dooijes
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Smith
authors.forename: Michel
authors.initials: M
authors.lastname: Goedert
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
authors.forename: John C
authors.initials: JC
authors.lastname: van Swieten
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology*; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D006801:Humans; D002479:Inclusion Bodies / Q000000981:diagnostic imaging*; D008297:Male; D008854:Microscopy, Electron; D008870:Microtubules / Q000187:drug effects / Q000502:physiology; D020125:Mutation, Missense / Q000502:physiology*; D020774:Pick Disease of the Brain / Q000473:pathology*; D011994:Recombinant Proteins / Q000494:pharmacology; D014463:Ultrasonography; D016875:tau Proteins / Q000235:genetics* / Q000494:pharmacology
chemical_list: D011994:Recombinant Proteins; D016875:tau Proteins; D004247:DNA