A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
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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 GD, Tanaka C
A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
Neurology. 1999 Sep 11;53(4):864-8.
- PubMed ID
- 10489057 [ View in PubMed]
- 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.