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 journalArticle

33 Citations (Scopus)

Abstract

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
JournalNeurology
Volume59
Issue number11
StatePublished - Dec 10 2002

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Frontotemporal Dementia
Mutation
Japan
Founder Effect
Parkinsonian Disorders
Age of Onset
Paralysis
Haplotypes
France
Dementia
DNA
Clinical Studies

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Tsuboi, Y., Baker, M., Hutton, M. L., Uitti, R. J., Rascol, O., Delisle, M. B., ... Wszolek, Z. K. (2002). Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). Neurology, 59(11), 1791-1793.

Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). / Tsuboi, Y.; Baker, M.; Hutton, M. L.; Uitti, R. J.; Rascol, O.; Delisle, M. B.; Soulages, X.; Murrell, J. R.; Ghetti, B.; Yasuda, M.; Komure, O.; Kuno, S.; Arima, K.; Sunohara, N.; Kobayashi, T.; Mizuno, Y.; Wszolek, Zbigniew K.

In: Neurology, Vol. 59, No. 11, 10.12.2002, p. 1791-1793.

Research output: Contribution to journalArticle

Tsuboi, Y, Baker, M, Hutton, ML, Uitti, RJ, Rascol, O, Delisle, MB, Soulages, X, Murrell, JR, Ghetti, B, Yasuda, M, Komure, O, Kuno, S, Arima, K, Sunohara, N, Kobayashi, T, Mizuno, Y & Wszolek, ZK 2002, 'Clinical and genetic studies of families with the tau N279K mutation (FTDP-17)', Neurology, vol. 59, no. 11, pp. 1791-1793.
Tsuboi Y, Baker M, Hutton ML, Uitti RJ, Rascol O, Delisle MB et al. Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). Neurology. 2002 Dec 10;59(11):1791-1793.
Tsuboi, Y. ; Baker, M. ; Hutton, M. L. ; Uitti, R. J. ; Rascol, O. ; Delisle, M. B. ; Soulages, X. ; Murrell, J. R. ; Ghetti, B. ; Yasuda, M. ; Komure, O. ; Kuno, S. ; Arima, K. ; Sunohara, N. ; Kobayashi, T. ; Mizuno, Y. ; Wszolek, Zbigniew K. / Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). In: Neurology. 2002 ; Vol. 59, No. 11. pp. 1791-1793.
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