A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration

We detected a missense mutation in exon 10 of tau that causes a substitution at codon 279 (N279K) in a Japanese patient with a familial background of parkinsonism and dementia originally described as pallido-nigro-luysian degeneration. This mutation is the same as one seen in a Caucasian family with...

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Bibliographic Details
Published inNeurology Vol. 53; no. 4; p. 864
Main Authors Yasuda, M, Kawamata, T, Komure, O, Kuno, S, D'Souza, I, Poorkaj, P, Kawai, J, Tanimukai, S, Yamamoto, Y, Hasegawa, H, Sasahara, M, Hazama, F, Schellenberg, G D, Tanaka, C
Format Journal Article
LanguageEnglish
Published United States 11.09.1999
Subjects
Amino Acid Sequence
Base Sequence
Globus Pallidus
Molecular Sequence Data
Mutation - genetics
Nerve Degeneration - genetics
Pedigree
Pons
Substantia Nigra
tau Proteins - genetics
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Summary:We detected a missense mutation in exon 10 of tau that causes a substitution at codon 279 (N279K) in a Japanese patient with a familial background of parkinsonism and dementia originally described as pallido-nigro-luysian degeneration. This mutation is the same as one seen in a Caucasian family with pallido-ponto-nigral degeneration. The similarities between these two families suggest a common genetic mechanism that may account for the peculiar distribution of neuroglial degeneration with tauopathy.
ISSN:0028-3878
1526-632X
DOI:10.1212/wnl.53.4.864