Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation
Article first published online: 19 MAR 2002
Copyright © 2002 Wiley-Liss, Inc.
Annals of Neurology
Volume 51, Issue 4, pages 525–530, April 2002
How to Cite
Hayashi, S., Toyoshima, Y., Hasegawa, M., Umeda, Y., Wakabayashi, K., Tokiguchi, S., Iwatsubo, T. and Takahashi, H. (2002), Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. Ann Neurol., 51: 525–530. doi: 10.1002/ana.10163
- Issue published online: 19 MAR 2002
- Article first published online: 19 MAR 2002
- Manuscript Accepted: 27 DEC 2001
- Manuscript Revised: 26 DEC 2001
- Manuscript Received: 14 AUG 2001
- Grants-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology, Japan (S.H. and H.T.)
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.