Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation

被引：20

作者：

Baba, Y.

Baker, M. C.

Le Ber, I.

Brice, A.

Maeck, L.

Kohlhase, J.

Yasuda, M.

Stoppe, G.

Bugiani, O.

Sperfeld, A. D.

Tsuboi, Y.

Uitti, R. J.

Farrer, M. J.

Ghetti, B.

Hutton, M. L.

Wszolek, Z. K.

机构：

[1] Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA

[2] Mayo Clin, Neurosci Labs, Jacksonville, FL 32224 USA

[3] INSERM 289, Paris, France

[4] Fed Neurol, Paris, France

[5] Univ Gottingen, Dept Psychiat, D-3400 Gottingen, Germany

[6] Univ Freiburg, Inst Human Genet, Freiburg, Germany

[7] Psychiat Univ Basel Hosp, Dept Gen Psychiat, Basel, Switzerland

[8] Ist Neurol Carlo Besta, Milan, Italy

[9] Univ Ulm, Dept Neurol, D-7900 Ulm, Germany

[10] Fukuoka Univ, Sch Med, Dept Neurol, Fukuoka 81401, Japan

[11] Indiana Univ, Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46204 USA

来源：

JOURNAL OF NEURAL TRANSMISSION | 2007年 / 114卷 / 07期

关键词：

frontotemporal dementia; parkinsonism; chromosome 17 (FTDP-17); P301S; race; tau mutation;

D O I：

10.1007/s00702-007-0632-9

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

In 9 patients with frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17) with a P301S tau mutation, the predominant phenotype was frontotemporal dementia in 3 and parkinsonism in 6. Comparison of the tau genotype/haplotype carrying the mutation and the initial clinical sign showed association between H1/H1 and parkinsonism and between H1/H2 and personality change. Thus, the tau haplotype carrying the mutation and the tau genotype may be related to the clinical phenotype throughout the disease course.

引用

页码：947 / 950

页数：4

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