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Late‐onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation
Author(s) -
Hayashi Shintaro,
Toyoshima Yasuko,
Hasegawa Masato,
Umeda Yuri,
Wakabayashi Koichi,
Tokiguchi Susumu,
Iwatsubo Takeshi,
Takahashi Hitoshi
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10163
Subject(s) - frontotemporal dementia , progressive supranuclear palsy , exon , parkinsonism , mutation , dementia , tau protein , proband , medicine , pathology , psychology , genetics , biology , gene , alzheimer's disease , disease
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.