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- Title
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
- Authors
Tomonori Kobayashi; Satoru Ota; Kuniaki Tanaka; Yuji Ito; Masato Hasegawa; Yuri Umeda; Yumiko Motoi; Masashi Takanashi; Masahiro Yasuhara; Midori Anno; Yoshikuni Mizuno; Hideo Mori
- 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 bodylike 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. Ann Neurol 2003;53:000000
- Publication
Annals of Neurology, 2003, Vol 53, Issue 1, p133
- ISSN
0364-5134
- Publication type
Article