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Neurology 2002;59:1791-1793
© 2002 American Academy of Neurology
Brief Communications

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

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

From the Mayo Clinic (Drs. Tsuboi, Hutton, Uitti, and Wszolek and M. Baker), Jacksonville, FL; Clinical Investigation Centre and Neuropharmacology Unit (Dr. Rascol), CHU Purpan, Toulouse, France; Service d’Anatomie et de Cytologie Pathologiques (Dr. Delisle), CHU Rangueil, Toulouse, France; Department of Neurology (Dr. Soulages), General Hospital of Rodez, Rodez, France; Indiana University (Drs. Murrell and Ghetti), Indianapolis, IN; Hyogo Institute for Aging Brain and Cognitive Disorders (Dr. Yasuda), Hyogo, Japan; Department of Neurology and Clinical Research Center (Drs. Komure and Kuno), Utano National Hospital; National Center of Neurology and Psychiatry (Dr. Arima), Kodaira, Japan; the National Hakone Hospital (Dr. Sunohara), Kanagawa, Japan; and Department of Neurology (Drs. Kobayashi and Mizuno), Juntendo University School of Medicine, Japan.

Address correspondence and reprint requests to Dr. Zbigniew K. Wszolek, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224; e-mail: wszolek.zbigniew{at}mayo.edu

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.




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