MOG抗体介导的特发性炎性脱髓鞘疾病

正近年来有关髓鞘少突胶质细胞糖蛋白(myelin oligodendrocyte glycoprotein,MOG)抗体的特发性炎性脱髓鞘疾病(idiopathic inflammatory demyelinating disease,IIDDs)的研究增多,该抗体介导的炎性脱髓鞘疾病可能成为一类IIDDs的新类型,有学者称之为MOG抗体介导的IIDDs(简称为"MOG抗体病")。此类疾病临床表现与其他类型IIDDs有一定的重叠,这些表现在AQP4抗体     

血清尿酸水平与急性特发性炎性脱髓鞘疾病的相关性研究

目的 探讨特发性炎性脱髓鞘疾病患者急性期血清中UA表达水平与疾病活动的相关性.方法 分别检测观察组(40例观察MS组患者,27例观察NMO组患者)及67例对照组人群血清中UA表达水平,比较观察组与对照组UA的表达差异;同时分析研究者血清中的UA水平与性别、发病年龄、EDSS评分之间的关系.结果 (1)观察组MS及NMO...     

急性脱髓鞘性脑脊髓病53例回顾分析

目的分析急性脱髓鞘性脑脊髓病的临床特点，探讨单相急性中枢神经系统（CNS）脱髓鞘性脑脊髓病临床亚组的特点，寻求较为准确可靠的诊断手段。方法收集近年收治的CNS急性脱髓鞘性疾病53例，对其临床特点、损害部位、实验室检查阳性结果以及影像学MRI的改变进行系统回顾分析。结果急性脱髓鞘性疾病53例中能做出临床诊断者46例，其中部分患者中枢和周围神经均受损害，难以按传统标准作出诊断，需密切随访。结论急性脱髓鞘性脑脊髓病是一组临床表现多样的免疫介导的炎性疾病，部分病例难以按传统标准做出诊断，有可能为临床孤立综合征（CIS）或其他亚组疾病，故尚需密切随访。MRI和脑诱发电位有重要诊断价值。急性期大剂量甲基强的松龙联合静脉丙种球蛋白治疗可取得一定疗效。     

中枢神经系统炎性脱髓鞘病的研究进展(述评)

近年来对于多发性硬化(MS)的病理机制、治疗等方面研究取得了较大的进展，特别是从病理上不仅注意到免疫细胞的浸润、髓鞘脱失和少突胶质细胞的损害，而且特别注意到轴索的损害。此文就MS、同心圆硬化以及播散性脑脊髓炎等炎性脱髓鞘疾病的临床研究进展做简要介绍并述评。     

NMO-IgG在中枢神经系统脱髓鞘疾病中的诊断价值

水通道蛋白4是维持中枢神经系统正常跨膜水转运、血-脑屏障完整性和中枢神经系统内环境稳定的水通道蛋白,其特异性自身抗体NMO-IgG是视神经脊髓炎的特异性生物学标志物,但其在视神经脊髓炎中的阳性率并非100%,甚至在某些其他中枢神经系统脱髓鞘疾病中也可检测到。本文拟对NMO-IgG在中枢神经系统脱髓鞘疾病中的意义进行概述,以加深对该抗体的认识并指导中枢神经系统脱髓鞘疾病的诊断与鉴别诊断。     

中枢神经系统脱髓鞘疾病患者外周血白细胞环状RNA表达谱的生物信息学分析

目的 通过对Gene Expression Omnibus (GEO)数据库中公共的数据集进行数据挖掘,找出中枢神经系统脱髓鞘疾病患者外周血白细胞中差异表达的环状RNA(circRNA),并从理论上预测其功能。方法 从GEO数据库中检索中枢神经脱髓鞘患者白细胞的circRNA表达数据集,应用DESeq2算法计算差异表达的circRNA,将不同数据集得到的差异表达circRNA进行比对,找出共同差异表达的circRNA。对差异表达的circRNA的母源基因进行基因本体(GO)和京都基因与基因组百科全书(KEGG)分析,揭示其可能的功能。最后,在实验性自身免疫性脑脊髓炎(EAE)小鼠外周血白细胞中对小鼠同源的circRNA进行实时定量聚合酶链式反应(RT-qPCR)验证其变化趋势。结果 通过检索GEO数据库,筛选出2个多发性硬化(MS)外周血白细胞数据集,获得263个差异表达的circRNA。其中,hsa_circ₀040823、hsa_circ₀018992、hsa_circ_...     

特发性脱髓鞘性视神经炎的临床转归

目的 了解特发性脱髓鞘性视神经炎(IDON)临床转归、转化为多发性硬化(MS)或视神经脊髓炎(NMO)的比例以及相关影响因素.方法 对确诊且临床资料完整的IDON患者进行病例回顾及随访,记录视功能和其他神经功能变化以及MS或NMO转化率,应用卡方检验分析不同临床特征对转化率的影响.结果 共入组资料完整且完成随访的IDON患者107例.多数患者视力恢复较好,12例(11.2%)在随访期间转化为MS或NMO.全部12例患者均符合2005年修订的McDonald诊断标准,其中4例符合1999年NMO诊断标准,其余8例中部分表现为"视神经脊髓型MS".复发性IDON较首次发病患者、伴头颅MRI异常较MRI正常者转化为MS或NMO的比例高,分别为23.1%和4.4%(χ2=6.899,P<0.01)以及18.2%和8.1%.是否伴有视乳头水肿以及不同视力损害程度组之间转化为MS或NMO的比例没有差异.结论 该组IDON患者转化为MS或NMO的比例为11.2%.复发性IDON和伴有头颅MRI异常的患者更易转化为MS或NMO.     

顽固性呃逆、呕吐的症状对于鉴别急性炎性脱髓鞘疾病和预示复发的临床意义

目的 探讨顽固性呃逆、呕吐(intractable hiccup and nausea,IHN)症状对于鉴别急性炎性脱髓鞘疾病和预示复发的意义.方法 回顾分析1995年～2011年北京协和医院病房收治的临床诊断的24例存在IHN的急性炎性脱髓鞘疾病患者的临床和影像学资料,其中,分析IHN在不同疾病组中的分布,IHN与其他复发症状的关系、IHN相对应的延髓责任病灶的影像学特点、以及血清水通道蛋白4抗体检测结果.结果 24例急性炎性脱随鞘疾病患者包括视神经脊髓炎12例,多发性硬化5例,复发性长节段脊髓炎6例,急性播散性脑脊膜炎1例,共发生IHN35次,其中40％发生在急性脱髓鞘事件之前.视神经脊髓炎患者组、复发性长节段脊髓炎患者组、多发性硬化患者组各组间相互比较,发现复发性长节段脊髓炎组延髓病灶与高颈段脊髓相连的比例是5/9,较多发性硬化组1/9比例明显增高(P =0.039 ＜0.05);视神经脊髓炎组患者血清水通道蛋白4阳性的比例是3/6,较多发性硬化组患者比例0/5明显增高(P =0.032 ＜0.05).各组患者在IHN与伴随症状的时间关系、伴随症状、出现延髓病灶的比例以及延髓病灶强化情况方面相比,无明显差异.结论 IHN可以作为鉴别急性炎性脱髓鞘疾病的参考,往往发生在其他症状之前,预示疾病复发.     

尿酸与CNS炎症性脱髓鞘病

尿酸是嘌呤代谢的产物，作为一种内源性抗氧化剂，在CNS炎症性脱髓鞘病的病理损害过程中有保护作用。多发性硬化（MS）患者的血清尿酸水平低于其他神经系统疾病患者。处于MS急性期患者的血清尿酸水平低于非急性期患者。血清尿酸水平的动态检测有助于MS复发与缓解的判断。该文就此进行综述。     

临床孤立综合征36例临床和磁共振成像特点分析

临床孤立综合征（clinically isolated syndrome，CIS）是指在排除其他疾病的情况下，中枢神经系统脱髓鞘事件的急性或亚急性单次发作，持续时间在24h以上，有多发性硬化、视神经脊髓炎等多种转归。我们收集了36例CIS患者，总结其临床和MRI表现，以增进对此综合征的了解。     

Idiopathic inflammatory demyelinating disorders after acute transverse myelitis

Acute transverse myelitis (ATM) is commonly para-infectious. Recurrent ATM occurs in connective tissue diseases (CTD), infective myelitis and idiopathic inflammatory demyelinating disorders (IIDD) including multiple sclerosis (MS) and neuromyelitis optica (NMO). Previous studies might include NMO and idiopathic recurrent transverse myelitis (IRTM) as MS. The aim was to study the outcome of patients after a first attack of idiopathic ATM. Idiopathic ATM patients over a 6-year period were retrospectively studied. Known causes of myelopathy were excluded. Among 32 patients studied, 20 (63%) had single ATM attack upon follow up for 39–93 months, three developed recurrent ATM related to CTD (two systemic lupus erythematosus and one anti-Ro antibody positive) and nine (28.1%) developed recurrent neuroinflammation compatible with IIDD. Among IIDD patients, three had NMO, two restricted variant of NMO, three IRTM and one classical MS. NMO, its variant and IRTM had mean spinal MRI abnormality of 3.7, 2.1 and 3.9 vertebral segments respectively while non-recurrent ATM had 1.6 vertebral segments. Four (80%) of the five patients with NMO or its variant had poor neurological prognosis versus only one (5%) of non-recurrent ATM patients. IRTM patients had advanced mean onset age, 62 years vs. 43 years for non-recurrent ATM patients. In IIDD patients presenting with ATM as first attack of neuroinflammation, NMO and its variant (56%) were most frequent, then IRTM (33%), with classical MS (11%) the rarest. As long-term treatments for NMO are different from MS, early recognition of NMO and its variant is important for prevention of serious neurological deficits.     

儿童MOG抗体阳性的中枢神经系统脱髓鞘病变12例临床特点分析

目的探讨髓鞘少突胶质细胞糖蛋白(MOG)抗体阳性的儿童中枢神经系统脱髓鞘病变的临床特点。方法回顾性分析2016年1月至2018年12月广东三九脑科医院神经内科收治的12例儿童MOG抗体阳性的中枢神经系统脱髓鞘病患者的临床症状、影像学特点、实验室检查、预后及随诊情况。结果 12例患者中男4例,女8例,起病年龄5~10岁,平均(8.0±3.1)岁。首发症状以意识水平下降、癫痫大发作等急性播散性脑脊髓膜炎(ADEM)样症状最多见(8例,8/12),其次为视力下降(5例,5/12),其中1例以ADEM样症状和视力下降同时起病。另有3例以ADEM样症状首发,起病后1周左右出现视力下降。12例患者行头颅MRI检查,11例(11/12)可见颅内异常病灶,以皮层下白质(10例,10/11)、脑干(7例,7/11)、丘脑(6例,6/11)、视神经(5例,5/11)受累为主,小脑(4例,4/11)、胼胝体(1例,1/11)亦可受累。9例患者行全脊髓MRI检查,5例(5/9)有异常病灶,均累及颈髓(5例,5/5),3例(3/5)累及胸髓,累及胸髓的病灶均为>3个椎体节段的长节段脊髓受累。12例患者行血清MOG抗体检测,11例(11/12)阳性,另1例(1/12)血清抗体阴性而脑脊液抗体阳性;8例患者行脑脊液MOG抗体检测,3例(3/8)阳性。所有患者经糖皮质激素及免疫球蛋白治疗,预后均良好,3例患者出现复发。结论MOG抗体相关的儿童中枢神经系统脱髓鞘病变以ADEM、视神经脊髓炎谱系疾病(NMOSD)最常见,往往以意识水平下降、癫痫大发作或视力下降起病,其预后相对较好,糖皮质激素治疗对缓解临床症状及预防复发有重要作用。     

多发性硬化患者血清尿酸水平的变化及意义

目的 :探讨多发性硬化 (MS)患者血清尿酸 (UA)水平变化与病情活动性的关系。方法 :比较复发 缓解型MS(relapsing remittingmultiplesclerosis ,RRMS)患者急性期及经大剂量甲泼尼龙 (甲基强的松龙 )冲击治疗后缓解期血清UA值 ,并与其他非炎症性神经系统疾病 (non inflammatoryneurologicaldisease ,NIND)作对照 ,同时对比治疗前后头颅MRI增强检查情况。结果 :RRMS患者急性期血清UA水平显著低于缓解期及NIND组 ,缓解期血清UA值虽低于对照组 ,但差异无显著性。治疗前头颅MRI显示病灶明显强化 ,治疗后强化病灶显著减少 ,同时伴随着UA水平回升 ,临床症状改善。结论 :血清UA水平变化与MS患者病情变化相关 ,UA可作为观察MS病情活动性及激素疗效的指标之一。     

Neuromyelitis optica with intraspinal expansion of Schwann cell remyelination

We report a case of neuromyelitis optica (NMO) with an unusual pattern of remyelination in the spinal cord. A Japanese woman complained of pain and numbness in the left thumb at the age of 36 years. She mainly presented with optic and spinal symptoms and was initially diagnosed as multiple sclerosis (MS). Her bilateral eyesight decreased, which led to light perception only in the right eye. She became unable to walk without a wheelchair. In spite of steroid pulse therapy, plasma exchange therapy and immunosuppressive therapy, her symptoms gradually worsened. After 33 years of a relapsing–remitting course, she died of septic urinary tract infection at the age of 69 years. Autopsy revealed prominent demyelination in the optic tract and the spinal cord. The optic nerve showed extensive demyelination accompanied by axon depletion. The spinal cord lesions were found in C8 to L2 level (contiguous 15 segments), especially Th5 to Th11 level. The thoracic spinal cord showed extensive remyelination spreading from the entry zone of peripheral nerves to the central portion. Regenerative myelin showed immunopositivity for Schwann/2E, a marker of Schwann cells and myelin of the peripheral nervous system. Expressions of glial fibrillary acidic protein and aquaporin 4 (AQP4) were weakened in the area of Schwann cell remyelination, suggesting that the essential pathogenesis of this case was disturbance of astrocytes. Inhibition of gliosis probably led to cystic cavities, and destruction of basal lamina may have permitted Schwann cells of peripheral nerves to enter the spinal cord and proliferate within empty spaces. Compared with the optic tract and the spinal cord lesions, a large part of the brain plaques was vague and inactive. We pathologically diagnosed this case as NMO for optic neuritis, myelitis, a contiguous spinal cord lesion and loss or decrease of AQP4 expression.     

Clinical and Radiological Features of Myelin Oligodendrocyte Glycoprotein-Associated Myelitis in Adults

Antibodies against myelin oligodendrocyte glycoprotein (MOG-IgG) have recently been established as a biomarker for MOG-antibody-associated disease (MOGAD), which is a distinct demyelinating disease of the central nervous system. Among the diverse clinical phenotypes of MOGAD, myelitis is the second-most-common presentation in adults, followed by optic neuritis. While some features overlap, there are multiple reports of distinctive clinical and radiological features of MOG-IgG-associated myelitis, which are useful for differentiating MOGAD from both multiple sclerosis and neuromyelitis optica spectrum disorder. In this review we summarize the clinical and radiographic characteristics of MOG-IgG-associated myelitis with a particular focus on adult patients.     

Clinical Profiles and Short-Term Outcomes of Acute Disseminated Encephalomyelitis in Adult Chinese Patients

MethodsThis study retrospectively reviewed the clinical profiles of ADEM in adult Chinese patients.ResultsADEM occurred during summer and autumn in about two-thirds of the 42 included patients. Prior infection was found in five patients and no preimmunization was recorded. The most frequent clinical presentations were alterations in consciousness (79%) and behavior changes (69%), followed by motor deficits (64%) and fever (50%). About one-quarter (26%) of the patients showed positive results for oligoclonal bands, and about half of them exhibited increases in the IgG index and 24-hour IgG synthesis rate. Magnetic resonance imaging showed white- and gray-matter lesions in 83% and 23% of the patients, respectively. Steroids were the main treatment, and full recovery occurred in 62% of the patients, with residual focal neurological deficits recorded in a few patients. After a mean follow-up period of 3.4 years, two patients exhibited recurrence and one patient exhibited a multiphasic course. One patient was diagnosed with multiple sclerosis (MS).ConclusionsWith the exception of the seasonal distribution pattern and prior vaccine rate, the clinical profiles of ADEM in adult Chinese patients are similar to those in pediatric populations. No specific markers are available for distinguishing ADEM from MS at the initial presentation. Careful clinical evaluations, cerebrospinal fluid measurements, and neuroradiological examinations with long-term follow-up will aid the correct diagnosis of ADEM.     

EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases

Despite high-dose intravenous immunoglobulin (IVIG) is widely used in treatment of a number of immune-mediated neurological diseases, the consensus on its optimal use is insufficient. To define the evidence-based optimal use of IVIG in neurology, the recent papers of high relevance were reviewed and consensus recommendations are given according to EFNS guidance regulations. The efficacy of IVIG has been proven in Guillain-Barré syndrome (level A), chronic inflammatory demyelinating polyradiculoneuropathy (level A), multifocal mononeuropathy (level A), acute exacerbations of myasthenia gravis (MG) and short-term treatment of severe MG (level A recommendation), and some paraneoplastic neuropathies (level B). IVIG is recommended as a second-line treatment in combination with prednisone in dermatomyositis (level B) and treatment option in polymyositis (level C). IVIG should be considered as a second or third-line therapy in relapsing–remitting multiple sclerosis, if conventional immunomodulatory therapies are not tolerated (level B), and in relapses during pregnancy or post-partum period (good clinical practice point). IVIG seems to have a favourable effect also in paraneoplastic neurological diseases (level A), stiff-person syndrome (level A), some acute-demyelinating diseases and childhood refractory epilepsy (good practice point).     

Acute disseminated encephalomyelitis that meets modified McDonald criteria for dissemination in space is associated with a high probability of conversion to multiple sclerosis in Taiwanese patients

Background: Patients with acute disseminated encephalomyelitis (ADEM) may relapse and some may ultimately convert to multiple sclerosis (MS); however, no criteria that can predict MS conversion are available to date. Our aim was to describe the clinical and magnetic resonance imaging (MRI) features of patients with an initial ADEM attack and evaluate which MRI criteria can predict conversion to MS. Methods: We retrospectively reviewed the records of 36 patients diagnosed with ADEM. We determined clinical signs/symptoms, examined the cerebrospinal fluid (CSF), and performed brain MRI scans and compared the findings between patients who did and did not convert to MS. Results: Clinical signs/symptoms, and CSF analysis show no significant difference between the two groups. The rate of conversion to MS from ADEM in Taiwanese patients is low (11%) after a mean follow‐up period of 28.36 months. Modified McDonald criteria were fulfilled in 19/36 patients: 21% (4/19) of those patients developed MS according to Poser criteria subsequently. Of the other patients (17/36) who did not fulfill these criteria, none converted to MS. (log rank test; P = 0.027). Conclusions: It is difficult to predict from initial clinical presentations to address which patients with ADEM will convert to MS. Patients with ADEM whose brain MRI findings met the modified McDonald criteria may have clinically isolated syndrome because they have a significantly higher probability of conversion to MS. In contrast, patients whose brain MRI findings did not meeting these criteria may be considered as having classic ADEM because they have a lower probability of conversion to MS.