X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene
X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene
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DOI：
10.1007/s00415-005-0713-3
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发表时间：
2005-06-01
影响因子：
6
通讯作者：
Refetoff, S
中科院分区：
文献类型：
--
作者：
Brockmann, K;Dumitrescu, AM;Refetoff, S
我们先前报告了两个年龄分别为3岁和8岁的无关男孩，他们的甲状腺激素转运蛋白基因MCT8突变导致严重的全球性发育迟缓和甲状腺激素异常的罕见模式。我们现在进一步描述与这些突变相关的一种不寻常的神经学表型，即阵发性运动诱发性运动障碍（PKD），由某些刺激引起，包括更换衣服或尿布。目前尚不清楚MCT8缺陷如何导致PKD。既往在甲状腺异常患者中观察到PKD。这种新的X连锁条件扩大了继发性PKD的范围。
We previously reported two unrelated boys aged 3 and 8 years with mutations in the thyroid hormone transporter gene MCT8 resulting in severe global retardation and an uncommon pattern of thyroid hormone abnormalities. We now further describe an unusual neurological phenotype associated with these mutations, namely paroxysmal kinesigenic dyskinesias (PKD), provoked by certain stimuli including changing of their clothes or diapers. It is not clear how the MCT8 defect causes PKDs. PKDs have been previously noted in patients with thyroid abnormalities. This novel X-linked condition widens the spectrum of secondary PKDs.