Early-onset, rapidly progressive familial tauopathy with R406W mutation.
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.
Saito
Y
Y
Department of Neuropathology, Tokyo Metropolitan Institute of Gerontology, University of Tokyo, Japan.
Geyer
A
A
Sasaki
R
R
Kuzuhara
S
S
Nanba
E
E
Miyasaka
T
T
Suzuki
K
K
Murayama
S
S
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*
D016875:tau Proteins