A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
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Kobayashi T, Ota S, Tanaka K, Ito Y, Hasegawa M, Umeda Y, Motoi Y, Takanashi M, Yasuhara M, Anno M, Mizuno Y, Mori H
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
Ann Neurol. 2003 Jan;53(1):133-7.
- PubMed ID
- 12509859 [ View in PubMed]
- Abstract
We report a novel mutation of tau (L266V missense mutation in exon 9) which may cause a type of familial frontotemporal dementia. The brain of a patient showed Pick body-like inclusions and unique tau-positive, argyrophilic astrocytes with stout filaments and naked, round, or irregular argyrophilic inclusions with deposits of both three-repeat and four-repeat tau. Recombinant tau with a L266V mutation showed a reduced ability to promote microtubule assembly, which may be the primary effect of the mutation.