Article
Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).
Neurology - 10 Dec 2002
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 Z K
Abstract excerpt
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...
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