一种新型的甲状腺转录因子-1（TITF-1）突变导致对左旋多巴有反应的良性遗传性舞蹈病。
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.
作者信息
Asmus F, Horber V, Pohlenz J, Schwabe D, Zimprich A, Munz M, Schöning M, Gasser T
机构信息
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tuebingen, Germany.
出版信息
Neurology. 2005 Jun 14;64(11):1952-4. doi: 10.1212/01.WNL.0000164000.75046.CC.
Presented is a pedigree with infancy-onset benign hereditary chorea (BHC) caused by a novel nonsense mutation in exon 3 (523G-->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.
本文展示了一个家系，其患有由TITF-1（Nkx2.1）基因第3外显子的一个新的无义突变（523G→T，E175X）导致的婴儿期起病的良性遗传性舞蹈症（BHC）。四名确诊的突变携带者表现出BHC的典型运动障碍和先天性甲状腺功能减退。令人惊讶的是，左旋多巴治疗使两名患者的步态显著改善且舞蹈症减轻。多巴胺能药物应被视为BHC的一种有效治疗选择。
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