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

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 t...

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Bibliographic Details
Published inNeurology Vol. 59; no. 11; p. 1791
Main Authors 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
Format Journal Article
LanguageEnglish
Published United States 10.12.2002
Subjects
Adult
Antiparkinson Agents - therapeutic use
Chromosomes, Human, Pair 17 - genetics
Dementia - genetics
Dementia - physiopathology
DNA - genetics
Founder Effect
France
Frontal Lobe
Humans
Japan
Levodopa - therapeutic use
Male
Microsatellite Repeats - genetics
Molecular Biology
Mutation - genetics
Nerve Degeneration - genetics
Parkinson Disease - genetics
Parkinson Disease - physiopathology
Penetrance
tau Proteins - genetics
Temporal Lobe
United States
France
United States
Japan
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Summary: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.
ISSN:0028-3878
1526-632X
DOI:10.1212/01.WNL.0000038909.49164.4B