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A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology
Author(s) -
Kobayashi Tomonori,
Ota Satoru,
Tanaka Kuniaki,
Ito Yuji,
Hasegawa Masato,
Umeda Yuri,
Motoi Yumiko,
Takanashi Masashi,
Yasuhara Masahiro,
Anno Midori,
Mizuno Yoshikuni,
Mori Hideo
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10447
Subject(s) - frontotemporal dementia , missense mutation , exon , mutation , pathology , dementia , biology , tau pathology , tau protein , medicine , genetics , gene , alzheimer's disease , disease
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. Ann Neurol 2003;53:000–000