A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
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.
Kobayashi
Tomonori
T
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Ota
Satoru
S
Tanaka
Kuniaki
K
Ito
Yuji
Y
Hasegawa
Masato
M
Umeda
Yuri
Y
Motoi
Yumiko
Y
Takanashi
Masashi
M
Yasuhara
Masahiro
M
Anno
Midori
M
Mizuno
Yoshikuni
Y
Mori
Hideo
H
D000328:Adult; D001253:Astrocytes / Q000473:pathology; D003704:Dementia / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D009474:Neurons / Q000473:pathology; D016875:tau Proteins / Q000235:genetics*
D016875:tau Proteins