A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration
- 1 September 1999
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 53 (4) , 864
- https://doi.org/10.1212/wnl.53.4.864
Abstract
Article abstract 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.Keywords
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