title: Early-onset, rapidly progressive familial tauopathy with R406W mutation.
abstract: An early-onset and rapidly progressive familial tauopathy with R406W mutation is described. The patient was a 47-year-old man who first presented with psychiatric symptoms followed by overt dementia at age 52 and died 1 year later. Postmortem study revealed tangle-associated neuronal degeneration, accentuated in the medial temporal lobe. R406W mutation was determined by sequence analysis and immunocytochemically with anti-mutant tau antibody.
authors.affiliation: Department of Neuropathology, Tokyo Metropolitan Institute of Gerontology, University of Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Saito
authors.forename: A
authors.initials: A
authors.lastname: Geyer
authors.forename: R
authors.initials: R
authors.lastname: Sasaki
authors.forename: S
authors.initials: S
authors.lastname: Kuzuhara
authors.forename: E
authors.initials: E
authors.lastname: Nanba
authors.forename: T
authors.initials: T
authors.lastname: Miyasaka
authors.forename: K
authors.initials: K
authors.lastname: Suzuki
authors.forename: S
authors.initials: S
authors.lastname: Murayama
mesh_terms: D017668:Age of Onset; D003704:Dementia / Q000209:etiology / Q000473:pathology*; D018450:Disease Progression; D006624:Hippocampus / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016874:Neurofibrillary Tangles / Q000473:pathology; D024801:Tauopathies / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D013702:Temporal Lobe / Q000473:pathology; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins