title: Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.
abstract: We report a case of frontotemporal dementia and parkinsonism linked to chromosome 17 of 5 years' duration in an 81-year-old man whose brother had died at age 86 years with dementia. In this patient, we found frontal and temporal neuronal loss, glial-predominant tau deposits, progressive supranuclear palsy-like straight tubules, accumulation of 4-repeat-predominant Sarkosyl-insoluble tau, and a novel exon 1 (Arg5His) tau gene mutation. This mutation decreased microtubule-promoting capacity and increased fibrillation of tau in vitro. Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the patient's tau pathology and late-onset dementia.
authors.affiliation: Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan. sin@bri.niigata-u.ac.jp
authors.forename: Shintaro
authors.initials: S
authors.lastname: Hayashi
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Toyoshima
authors.forename: Masato
authors.initials: M
authors.lastname: Hasegawa
authors.forename: Yuri
authors.initials: Y
authors.lastname: Umeda
authors.forename: Koichi
authors.initials: K
authors.lastname: Wakabayashi
authors.forename: Susumu
authors.initials: S
authors.lastname: Tokiguchi
authors.forename: Takeshi
authors.initials: T
authors.lastname: Iwatsubo
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Takahashi
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D003704:Dementia / Q000235:genetics* / Q000473:pathology; D003902:Detergents; D005091:Exons; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D008870:Microtubules / Q000378:metabolism / Q000473:pathology; D009836:Oligodendroglia / Q000473:pathology / Q000648:ultrastructure; D017354:Point Mutation; D012333:RNA, Messenger / Q000032:analysis; D012521:Sarcosine / Q000031:analogs & derivatives*; D012995:Solubility; D016875:tau Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D003902:Detergents; D012333:RNA, Messenger; D016875:tau Proteins; C025231:sarkosyl; D012521:Sarcosine