Mutations in the tau gene (MAPT) in FTDP-17: The family with multiple system tauopathy with presenile dementia (MSTD)

Maria Grazia Spillantini, Jill R. Murrell, Michel Goedert, Martin Farlow, Aaron Klug, Bernardino Ghetti

Research output: Chapter in Book/Report/Conference proceedingChapter

10 Scopus citations


Work in 1980s and early 1990s established that the microtubuleassociated protein tau is the major component of the paired helical filament of Alzheimer's disease. Similar filamentous deposits are also present in a number of other diseases, including progressive supranuclear palsy,corticobasal degeneration and Pick's disease. In 1998, the relevance of tau dysfunction for the neurodegenerative process becameclear, when mutations in the tau gene were found to cause the inherited "frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)." The paper highlighted here [Spillantini M.G., Murrell J.R.,Goedert M., Farlow M., Klug A. and Ghetti B. (1998) Mutation in thetau gene in familial multiple system tauopathy with presenile dementia. Proc. Natl. Acad. Sci. USA 95, 7737-7741] reported a mutation at position +3 in the intron following alternatively spliced exon 10 of the tau gene in a family with abundant filamentous deposits made exclusively of four-repeat tau. Levels of soluble four-repeat tau were increased in individuals with this mutation. It was proposed that the +3mutation destabilises a stem-loop structure located at the end of exon 10 and the beginning of the intron, thus resulting in an abnormal ratio of three-repeat to four-repeat tau isoforms.

Original languageEnglish
Title of host publicationAlzheimer's Disease: A Century of Scientific and Clinical Research
PublisherIOS Press
Number of pages8
ISBN (Print)9781586036195
StatePublished - Jul 2006


  • Mutation
  • Tau
  • Tauopathy

ASJC Scopus subject areas

  • Neuroscience(all)

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