title: A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
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.
authors.affiliation: Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Tomonori
authors.initials: T
authors.lastname: Kobayashi
authors.forename: Satoru
authors.initials: S
authors.lastname: Ota
authors.forename: Kuniaki
authors.initials: K
authors.lastname: Tanaka
authors.forename: Yuji
authors.initials: Y
authors.lastname: Ito
authors.forename: Masato
authors.initials: M
authors.lastname: Hasegawa
authors.forename: Yuri
authors.initials: Y
authors.lastname: Umeda
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Motoi
authors.forename: Masashi
authors.initials: M
authors.lastname: Takanashi
authors.forename: Masahiro
authors.initials: M
authors.lastname: Yasuhara
authors.forename: Midori
authors.initials: M
authors.lastname: Anno
authors.forename: Yoshikuni
authors.initials: Y
authors.lastname: Mizuno
authors.forename: Hideo
authors.initials: H
authors.lastname: Mori
mesh_terms: 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*
chemical_list: D016875:tau Proteins