Neuropathic pain in two-generation twins carrying the sodium channel Nav1.7 functional variant R1150W
Neuropathic pain in two-generation twins carrying the sodium channel Nav1.7 functional variant R1150W
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DOI：
10.1016/j.pain.2014.08.003
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发表时间：
2014-10-01
期刊：
影响因子：
7.4
通讯作者：
Sommer, Claudia
中科院分区：
文献类型：
--
作者：
Harrer, Judith U.;Uceyler, Nurcan;Sommer, Claudia
我们目前的临床，神经病理学和分子遗传学研究结果的一个家庭与一个新的疼痛表型的钠通道基因SCN 9A多态性R1150W。一名46岁女性，有5年的发作性温度和运动依赖性足部和小腿灼痛病史，伴有远端上肢和下肢麻木。她的同卵双胞胎姐妹和他们的母亲和她的双胞胎出现了类似的症状。临床评价正常，但手指和足部有轻度远端感觉缺损。电生理测试无异常，血清和脑脊液实验室检查结果也无异常。下肢远端皮肤活检显示表皮神经纤维密度处于正常下限。有髓真皮神经纤维呈朗维尔结节延长，但结节和结旁蛋白分布正常。离子通道相关疼痛疾病的基因检测揭示了Na（v）1.7钠通道的氨基酸R1150W取代。Na（v）1.7多态性与小口径周围神经髓鞘形成障碍特征的结合以前从未被描述过，可能为我们患者的临床综合征提供了一种解释。钠通道阻滞剂拉莫三嗪治疗提供了一些缓解，与钠通道功能障碍在该家族疼痛综合征中的作用一致。(C)2014年国际疼痛研究协会。Elsevier B.V.出版，保留所有权利。
We present clinical, neuropathological, and molecular genetic findings of a family with a new pain phenotype of the sodium channel gene SCN9A polymorphism R1150W. A 46-year-old woman presented with a 5-year history of episodic temperature-and exercise-dependent burning pain of the feet and lower legs associated with numbness of the distal upper and lower limbs. Her monozygotic twin sister and their mother and her twin presented similar symptoms. Clinical evaluation was normal except for a mild distal sensory deficit in fingers and feet. Electrophysiological testing was unremarkable, as were serum and cerebrospinal fluid laboratory findings. Skin biopsies of the distal lower limbs revealed an epidermal nerve fiber density at the lower limit of normal. Myelinated dermal nerve fibers showed elongated nodes of Ranvier, but normal distribution of nodal and paranodal proteins. Genetic testing for ion channel-associated pain disorders revealed an amino acid R1150W substitution of the Na(v)1.7 sodium channel. The combination of a Na(v)1.7 polymorphism with dysmyelinating features in small-caliber peripheral nerves has not been described before and may suggest an explanation for the clinical syndrome in our patients. Treatment with the sodium channel blocker lamotrigine provided some relief, consistent with a role of sodium channel dysfunction in the pain syndrome of this family. (C) 2014 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.