Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene
Article first published online: 25 MAY 2001
Copyright © 2001 Wiley-Liss, Inc.
Annals of Neurology
Volume 50, Issue 1, pages 117–120, July 2001
How to Cite
Miyamoto, K., Kowalska, A., Hasegawa, M., Tabira, T., Takahashi, K., Araki, W., Akiguchi, I. and Ikemoto, A. (2001), Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene. Ann Neurol., 50: 117–120. doi: 10.1002/ana.1083
- Issue published online: 26 JUN 2001
- Article first published online: 25 MAY 2001
- Manuscript Accepted: 30 MAR 2001
- Manuscript Revised: 29 MAR 2001
- Manuscript Received: 29 JAN 2001
We report a case of familial frontotemporal dementia and parkinsonism characterized by early onset with mental retardation. The patient died at the age of 54; neuronal loss was severe in the frontal and temporal cortices, globus pallidus, substantia nigra, red nucleus and dentate nucleus. Anti-tau-positive fibrillary changes were observed in neurons and glia in these regions. Although the patient had 2 novel point mutations of the tau gene, P301P (CCG to CCA) and an intron 10+11-splice site (T to C), exon trapping analysis indicated that the latter was pathogenic.