JNNP:NEFH变异引起的2CC型腓骨肌萎缩症临床表型

2021-09-24 MedSci原创 MedSci原创

腓骨肌萎缩症(Charcot-Marie-Tooth,CMT)亦称为遗传性运动感觉神经病(HMSN),具有明显的遗传异质性,临床主要特征是四肢远端进行性的肌无力和萎缩伴感觉障碍。CMT是最常见的遗传性

腓骨肌萎缩症(Charcot-Marie-Tooth,CMT)亦称为遗传性运动感觉神经病(HMSN),具有明显的遗传异质性,临床主要特征是四肢远端进行性的肌无力和萎缩伴感觉障碍。CMT是最常见的遗传性周围神经病之一(发病率约为1/2500)。有证据表明,NFs(神经丝)作为独立聚集体或作为神经原纤维缠结或路易小体的一部分的累积在中枢神经系统的神经退行性疾病(如肌萎缩侧索硬化症(ALS)、阿尔茨海默病和帕金森病)以及PNS(如Charcot-Marie-Tooth病(CMT))中发挥作用。

神经丝(NFs)大量含于神经元中的外径概为10nm的纤维结构。认为具有保持神经元形态的细胞骨架作用。。根据凝胶电泳测量的分子量可以分为重(NEFH,205 kDa)、中(NEFM,160 kDa)和轻(NEFL,68 kDa)亚单位。NEFH尾部结构域重复序列中的单核苷酸多态性和缺失与ALS风险增加有明确关联。在CMT中,NEFL杂合子突变导致常染色体显性CMT1或CMT2,而双等位基因突变导致早发和严重的轴索神经病,并伴有相关的传导速度缓慢。总体而言,与NEFL突变相关的神经病是轴索性的,迄今为止,没有令人信服的证据表明原发性脱髓鞘导致NEFL相关CMT的发病机制。

这项观察性队列研究的目的是描述来自8个不相关家族的30名患者和3名无症状突变携带者的(NEFH基因突变导致的2CC型腓骨肌萎缩症(CMT2CC))的详细表型和进展。本文发表在《神经病学,神经外科学和精神病学杂志》上()。

纳入本研究的患者被招募到评估临床中心的各自研究方案中。主要研究者对本研究中所有具有详细表型数据的患者进行了评估。根据医学研究委员会运动评分量表(0-5)分配运动检查分数。在可用的情况下,包括Charcot-Marie-Toth检查分数。。神经生理学评估包括神经传导研究和同心针电极肌电图(EMG)。从四名患者获得了MRI图像,其中包括大腿和小腿的T1加权和STIR图像。此外,从患者FR2-II获得全身冠状和轴向T1加权磁共振图像。按照标准程序提取基因组DNA。使用Illumina HiSeq2500测序平台(UK1、UK4和CN1)或Illumina NextSeq500平台(FR1和FR2),对来自五个家族的进行全外显子组测序。在其余三个家族(UK2、UK3和FR3)的患者身上进行CMT基因特异性检查。基因组分析工具包软件用于序列比对。NEFH基因型通过Sanger测序确认。

与蛋白质结构域和转录相关的NEFH 

在这项基因型-表型研究中,提供了来自8个CMT2CC家族的33名患者的表型数据,这些患者是由杂合致病性NEFH变体引起的。本研究中的所有变异体均位于NEFH的尾部结构域,由外显子4编码。33例患者的可用临床信息,其中30例有症状,表明大多数患者在成年中期首次出现神经病变症状,平均发病年龄为31.0±15.1岁(SD);8名患者在儿童或青少年时期发病。该表型的一个常见且重要的临床特征,对日常生活具有功能性影响,是近端下肢(LL)无力的发展,通常表现为爬楼梯困难、上坡行走困难或坐着站立困难。

本研究报告的新发现和先前发表的2CC型腓骨肌萎缩症家族的谱系

这在70%的患者(21/30)病程早期变得明显,从症状开始到近端受累的平均时间为4.4±5.4年(SD)。9例患者表现为近端受累的特征,且总的来说,症状的出现时间为20岁或20岁以后。与儿童发病(定义为20岁前发病)相比,成人发病患者更容易出现近端无力症状。此外,在这项研究中,大约一半有症状的患者(16/30,53%)在其一生中的某个时间点开始使用轮椅或机动踏板车,无论是长途旅行还是永久性旅行。这16名患者中有14名在65岁之前需要使用助行器(如棍子),从症状出现到使用轮椅或机动踏板车之间的平均时间为24.1±10.9年(SD)。

MRI检查结果

观察到的症状患者中,有40%显示早期踝关节跖屈乏力,这在病史(如不能用脚趾站立)检查中都很明显。52%的患者(13/25)有某种形式的足部畸形,来自八个家族中的两个家族(UK1和FR1)的患者在检查时以快速反射的形式表现出细微的上运动神经元特征。所有进行神经传导研究的患者(20/33)均显示存在以运动为主的感觉运动轴突神经病。LL运动和感觉反应普遍减少或消失,而上肢(UL)运动反应仅在两名65岁以上的患者中减少。神经病变的神经生理学严重程度因患者而异,与进行研究的年龄无关。

总之,这项表型-基因型研究强调了CMT2CC的不寻常表型,它更类似于脊髓性肌萎缩症,而不是典型的CMT。

Pipis MCortese APolke JM, et al Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

 

 

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    2022-01-22 amyloid
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    2021-09-26 tastas

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