JNNP:晚发性维生素B2转运蛋白缺乏症与各种运动神经病病因关联

2020-10-29 MedSci原创 MedSci原创

核黄素转运蛋白缺陷(RTDs)涉及SLC52A3和SLC52A2基因,核黄素或维生素B2(7,8-二甲基-10-三甲基异四氧嘧啶)是一种重要的水溶性维生素,是黄素单核苷酸和黄素腺嘌呤二核苷酸的前体。这

核黄素转运蛋白缺陷(RTDs)涉及SLC52A3和SLC52A2基因,核黄素或维生素B2(7,8-二甲基-10-三甲基异四氧嘧啶)是一种重要的水溶性维生素,是黄素单核苷酸和黄素腺嘌呤二核苷酸的前体。这些辅酶在许多细胞酶反应中起辅助作用,特别是在能量代谢(线粒体β氧化)和氨基酸和脂质合成中。核黄素的饮食摄入来自牛奶、肉类,油性鱼类和绿色蔬菜,儿童每日摄入量为0.4毫克,哺乳期妇女为1.6毫克。 SLC52A2和SLC52A3蛋白质具有不同的组织分布,并作为核黄素从消化腔输送到不同器官的细胞,包括中枢神经系统。研究显示,近年来RTDs与进行性桥延麻痹伴耳聋(Brown Vialetto Van Laere(BVVL)综合征(一种与运动神经病变(MN)和耳聋相关的遗传性疾病)有关。bvvl/RTD在成人患者中很少有报道,但由于神经科医生对bvvl/RTD缺乏认识,可能是诊断不足。在这项研究中,我们旨在探讨RTD患者晚发性MN的表型和预后。

方法:回顾性收集所有10岁后(n=6)发生MN的法国RTD患者的临床、生物学和电生理资料,并从其他19例类似RTD患者中提取数据。共有25名患者被纳入本研究。将队列中的每个患者分为四种不同的MN表型之一:(1)肌萎缩侧索硬化(ALS)或远端遗传性运动神经病变(dHMN)的下运动神经元(LMN)综合征,具有弥漫性MN和慢性病程;(2)多颅性神经病变(MCN)多发性痣,急性或亚急性MN首先累及脑神经,包括I和VIII神经;(3)急性运动神经病(AMN)类似于炎症性神经病变(Guillain-Barrésyndrome)和(4)混合运动和感觉神经病变(MSN),脊髓前角为运动神经元,背根神经节为感觉神经元,无长度依赖型,运动和感觉分离表现。

结果:成人伴MN的RTD患者具有不同的临床表现,可能类似于肌萎缩侧索硬化症或远端遗传性运动神经病变(56%)、累及颅神经的多发性痣(16%)、格林-巴雷综合征(8%)和混合运动和感觉神经病变综合征(仅SLC52A2患者)。耳聋通常是在MN(44%)之前被诊断出来的,但是在一些患者中,耳聋只从MN开始(16%)。BVVL中描述的典型的桥小脑麻痹不是恒定的。生化测试通常是正常的。大多数患者在补充核黄素后好转(86%)。

虽然,晚发性RTD可能体现运动神经病变的不同获得性或遗传性原因,但由于每次口服高剂量核黄素通常是非常有效的,因此这是一个值得研究的症状。

Carreau CBenoit CAhle G, et al Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies

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    2021-04-21 yzh409
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    2020-12-09 ms3198164387790639

    学习一下

    0

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    2020-11-07 wxlh1991

    学习了

    0

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    2020-10-31 146465bem06暂无昵称

    维生素B12与运动神经病因关联

    0

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    2020-10-30 axin012
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    2020-10-30 马龙
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    2020-10-29 13c30453m58暂无昵称

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