多发性硬化症与1B型遗传性运动感觉神经病之间的罕见关联。
A rare association between multiple sclerosis and Charcot-Marie-Tooth type 1B.
作者信息
Cortese Rosa, Zoccolella Stefano, Muglia Maria, Patitucci Alessandra, Scarafino Antonio, Paolicelli Damiano, Simone Isabella Laura
机构信息
Department of Basic Medical Sciences, Neurosciences and Sense Organs University of Bari Bari Italy.
Institute of Neurological Sciences National Research Council Mangone, Cosenza Italy.
出版信息
Brain Behav. 2016 Sep 25;6(12):e00580. doi: 10.1002/brb3.580. eCollection 2016 Dec.
The association between multiple sclerosis (MS) and hereditary and sporadic demyelinating disorders of the peripheral nervous system is extremely rare. We herein report a case of Charcot-Marie-Tooth disease type 1B with p.Val102fs mutation in the MPZ gene that developed relapsing remitting MS.
多发性硬化症（MS）与遗传性和散发性周围神经系统脱髓鞘疾病之间的关联极为罕见。我们在此报告一例患有1B型夏科-马里-图斯病且MPZ基因存在p.Val102fs突变的患者，该患者发展为复发缓解型多发性硬化症。
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