A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa

被引：64

作者：

Asmus, F

Horber, V

Pohlenz, J

Schwabe, D

Zimprich, A

Munz, M

Schöning, M

Gasser, T

机构：

[1] Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Dystonia Genet Unit, D-72076 Tubingen, Germany

[2] Univ Tubingen, Childrens Hosp, Dept Paediat Neurol & Child Dev, Tubingen, Germany

[3] Johannes Gutenberg Univ Mainz, Childrens Hosp, D-6500 Mainz, Germany

[4] Goethe Univ Frankfurt, Dept Paediat Hematol & Oncol, Frankfurt, Germany

[5] Univ Hosp Vienna, Dept Neurol, A-1090 Vienna, Austria

来源：

NEUROLOGY | 2005年 / 64卷 / 11期

关键词：

D O I：

10.1212/01.WNL.0000164000.75046.CC

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Presented is a pedigree with infancy-onset benign hereditary chorea (BHC) caused by a novel nonsense mutation in exon 3 ( 523G3 -> T, E175X) of the TITF-1 (Nkx2.1) gene. Four confirmed mutation carriers showed the typical movement disorder of BHC and congenital hypothyroidism. Surprisingly, treatment with levodopa improved gait dramatically and reduced chorea in two patients. Dopaminergic drugs should be considered a useful therapeutic option in BHC.

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页码：1952 / 1954

页数：3

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