Familial frontotemporal dementia and Parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene

被引：46

作者：

Miyamoto, K ^{[1
]}

Kowalska, A

Hasegawa, M

Tabira, T

Takahashi, K

Araki, W

Akiguchi, I

Ikemoto, A

机构：

[1] Natl Inst Neurosci, Dept Immunol, NCNP, Dept Demyelinating Dis & Aging, Kodaira, Tokyo 1878502, Japan

[2] Kyoto Univ, Dept Neurol, Kyoto, Japan

[3] Univ Tokyo, Dept Neuropathol & Neurosci, Grad Sch Pharmaceut Sci, Tokyo, Japan

[4] Kyoto Univ Hosp, Anat Pathol Lab, Kyoto 606, Japan

来源：

ANNALS OF NEUROLOGY | 2001年 / 50卷 / 01期

关键词：

D O I：

10.1002/ana.1083

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：117 / 120

页数：4

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