获得性神经性肌强直的临床,电生理及其免疫学…

本文报告１例３８岁女性肺癌患者伴进行性全身肌肉连续性抽搐，痉挛，僵硬和无力，胸片和胸部ＣＴ提示右上肺中心型肺癌，肺不张，脑脊液ＩｇＧ增高，寡克隆区带阳性。肌电图呈连续性高频肌强直放电，发作间期可见束颤电位。周围神经封闭可缓解全部肌强直症状，并消除肌电图异常连续性放电。     

腓骨肌萎缩症的临床、电生理和遗传学特点(附1家系报告)

目的 探讨腓骨肌萎缩症(CMT)的临床、电生理和遗传学特点.方法 对1例CMT患者的临床资料及其家系调查资料进行回顾性分析.结果 本例患者主要表现为先天性慢性进行性双下肢远端肌无力和肌肉萎缩,伴有双上肢受累;腱反射减弱或消失,下肢感觉障碍.神经电生理检查示周围神经损害.家系调查显示为常染色体显性遗传.结论 CMT的临床特点为下肢远端肌无力、萎缩,神经电生理检查为周围神经损害,主要呈常染色体显性遗传.     

Emery-Dreifuss肌营养不良症的临床、病理特征及emerin蛋白、STA基因的表达(附1例报告)

目的研究Emery-Dreifuss肌营养不良症（EDMD）的临床、病理特征及emerin蛋白、STA基因的表达。方法回顾性分析1例EDMD患者的临床资料及STA基因检测结果。结果本例患者儿童期发病,进行性四肢肌肉无力、萎缩,早期关节挛缩和心脏受累;血肌酶仅轻度增高;病理检查肌肉肌纤维大小不等,纤维变圆,部分被脂肪取代;脊髓前角细胞正常,腓肠神经无改变,除外神经源性肌萎缩;横纹肌与心肌emerin蛋白消失;STA基因无突变。结论EDMD是肌营养不良的特殊类型,发病早期出现关节挛缩和心脏受累;肌核膜emerin蛋白缺失;散发性EDMD的STA基因无突变。     

Identification of IgG subclasses'' oligoclonal bands in multiple sclerosis CSF

IgG subclasses' oligoclonal bands in unconcentrated CSF from MS patients were detected by isoelectric focusing in agarose gel with subsequent immunoblotting using mouse monoclonal antibodies to human IgG subclasses and double-antibody avidin-biotin-alkaline phosphatase system. All MS CSF showed presence of oligoclonal bands specific to the IgG1 subclass; in addition, several of these samples also had oligoclonal bands specific to IgG3, IgG2, or IgG4, in order of decreasing frequency. Since the CSF of a greater number of MS patients showed oligoclonal bands specific to the IgG1 and IgG3 subclasses, the findings are consistent with those reported in patients with chronic viral infections and autoimmune diseases.     

Genetic basis of multiple sclerosis: HLA antigens, disease progression, and oligoclonal IgG in CSF

The HLA antigens B7 and Dw2 occurred at elevated frequencies in 105 multiple sclerosis (MS) patients (49 and 47%, respectively), compared to healthy controls (29 and 30%), especially in MS patients with oligoclonal CSF-IgG (51 and 50%), in cases with CSF-IgG index values above 1.5 (64 and 64%), and in those with the most malignant course of the disease (47 and 59%). Normal or only slightly elevated frequencies of B7 and Dw2 were found in MS patients without oligoclonal CSF IgG (35 and 29%), normal CSF-IgG index (43 and 39%), and the most benign course (42 and 37%). No correlation was found between the HLA type and measles virus antibody titers in serum or a measles virus antibody response within the CNS.     

Acquired neuromyotonia and peripheral neuropathy in a patient with Hodgkin's disease

Acquired neuromyotonia is characterized by hyperexcitability of motor nerves resulting in continuous muscle fiber activity. It occurs most often as a paraneoplastic syndrome in patients with cancers of the immune system. Antibodies against voltage-gated potassium channels (VGKCs) have been detected in some patients. Peripheral neuropathy is sometimes present. We report on a patient with Hodgkin's lymphoma in complete remission who developed paresthesias followed by neuromyotonia with bulbar involvement. Peripheral sensorimotor neuropathy was diagnosed electrophysiologically and evidence of axonal degeneration and demyelination was detected by sural nerve biopsy. The patient's complaints, including dysarthria, improved after carbamazepine treatment.     

Clinical aspects of neuromuscular transmission disorders

Autoimmune disorders of neuromuscular transmission are caused by antibodies (abs) directed against membrane proteins at the motor end-plate. Myasthenia gravis (MG) is due, in most cases, to abs against the nicotinic acetylcholine receptor (AChR). Anti-AChR-positive MG actually includes different disease entities: weakness can be confined to extrinsic ocular muscles or can be generalized; patients with generalized MG (G-MG) can be subdivided on the basis of age of onset, HLA association and thymic pathology. About 15% of G-MG patients are anti-AChR-negative; in a proportion of these cases serum abs against the muscle- specific kinase (MuSK) are found. Anti-MuSK-positive MG is characterized by predominant involvement of bulbar muscles and very low frequency of thymic pathology. The Lambert-Eaton myasthenic syndrome (LEMS) is caused by abs against voltage-gated calcium channels at nerve terminal. LEMS is characterized by muscle weakness and autonomic disturbances and it is paraneoplastic in over 50% of the cases. In neuromyotonia and cramp-fasciculation syndrome, that are thought to be due to anti-voltage-gated potassium channel abs, signs of peripheral nerve hyperexcitability can be associated with CNS features.     

GFAP-specific oligoclonal bands in the CSF of a patient with acute myelitis

The specificity for GFAP (glial fibrillary acidic protein) of oligoclonal IgG bands in the CSF of a patient with acute myelitis was demonstrated by isoelectric focusing and affinity blotting. Findings were confirmed by western blotting using a monoclonal antibody to GFAP as a reference. Immune reactions to this astrocyte protein are considered as arising secondary to spinal cord tissue lesion.     

寡克隆带和IgG鞘内合成率对多发性硬化的诊断价值

目的探讨寡克隆带(OCBs)和IgG鞘内合成率(IgGSyn)对多发性硬化(MS)诊断的敏感性、特异性,以及定性和定量指标的相关性。方法选取30例MS(MS组)、40例神经系统炎性疾病(NID组)和22例神经系统非炎性疾病(NNID组)患者,应用速率散射比浊法测定血清和脑脊液(CSF)中免疫球蛋白G(IgG)、白蛋白(Alb)水平,等电聚焦结合银染色法检测CSF中OCBs,计算IgGSyn,并对其敏感性、特异性和阳性结果似然比(PRLR)进行分析。结果OCBs阳性率和IgGSyn异常率MS组与NID组比较差异无显著性;MS组、NID组与NNID组比较差异有极显著性(均P<0.01)。MS组和NID组中,OCBs阳性者与阴性者IgGSyn值差异无显著性。对MS诊断的敏感性、特异性和PRLR,OCBs分别为63.3%、77.7%和2.8;IgGSyn为46.7%、75.2%和1.9。结论OCBs和IgGSyn检测结果的不完全一致性提示中枢神经系统内存在不同的体液免疫反应机制,综合分析OCBs和IgGSyn,对MS诊断具有参考价值。     

Direct tissue isoelectric focusing of nervous system and muscle sections for detection of IgG patterns

Agarose isoelectric focusing (IF) of 5-70 microns sections of frozen autopsy material (direct tissue IF; DTIF) from the central nervous system (CNS) and peripheral nervous system (PNS), and from muscle biopsy, followed by immunofixation with unlabeled or radiolabeled anti-serum against human gamma chains or IgG Fc fragments has been developed for analysis of IgG patterns. The DTIF technique followed by antiserum immunofixation is a promising tool for characterization of proteins in autopsy and biopsy materials from nervous and muscular systems. In multiple sclerosis brains, oligoclonal IgG bands were found which differed regarding number and mobility between the brains, and also between two different regions in single brains. For PNS, IgG patterns were easily detectable. In polymyositis muscle, no difference was found for IgG patterns when compared with normal muscle or serum.     

Oligoclonal immunoglobulin G in cerebrospinal fluid of myasthenia gravis patients

Immunoglobulin G (IgG) band patterns were investigated in cerebrospinal fluid (CSF) from 19 patients with myasthenia gravis (MG) in a search for abnormalities indicating central nervous system (CNS) involvement in this disorder. Using the isoelectric focusing (IEF) technique and antiserum immunoblotting against IgG, we found no evidence of the presence of oligoclonal IgG in CSF from most of MG patients. In 2 cases, the positive findings of oligoclonal IgG in CSF may have reflected a manifestation of an associated disease, which has already been associated with immune abnormalities within the CNS. Further investigations with more sophisticated techniques are required to give additional insight into humoral immune events within the CNS in MG patients.     

Correlation between the IgG index, oligoclonal bands in CSF, and the diagnosis of demyelinating diseases

Intrathecal immunoglobulin synthesis can be assessed by different approaches. It can be measured quantitatively by the IgG index or qualitatively by isoelectric focusing (IEF) to detect oligoclonal bands (OCB). In this study we investigated if there is a correlation between the frequency of OCB and the IgG index and if the IgG index predicts the diagnosis of a demyelinating CNS disease (DMD). We found a positive correlation between the IgG index and the frequency of OCB as well as the probability of DMD. We conclude that quantitative assessment of CSF-IgG can be useful because it is easier and quicker to perform than IEF but cannot replace IEF in general because this is the most sensitive method to detect abnormal IgG in CSF.