Clinical and genetic studies of families with the tau N279K mutation (FTDP-17)

Y. Tsuboi, M. Baker, M. L. Hutton, R. J. Uitti, O. Rascol, M. B. Delisle, X. Soulages, J. R. Murrell, B. Ghetti, M. Yasuda, O. Komure, S. Kuno, K. Arima, N. Sunohara, T. Kobayashi, Y. Mizuno, Zbigniew K. Wszolek

Research output: Contribution to journalArticlepeer-review

37 Scopus citations


The tau N279K mutation was identified in four separately ascertained families in the United States, Japan, and France and in another recently discovered affected individual in Japan. The authors analyzed genealogical and clinical records and DNA samples. Average age at onset was 43 years; survival time was 7 years. All families exhibited similar clinical features, with parkinsonism, dementia, and supranuclear palsy uniformly seen. A founder effect indicated by a shared disease haplotype was seen only in two Japanese families. The N279K mutation can develop independently in different parts of the world.

Original languageEnglish (US)
Pages (from-to)1791-1793
Number of pages3
Issue number11
StatePublished - Dec 10 2002

ASJC Scopus subject areas

  • Clinical Neurology


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