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Objective To investigate the polymorphism of T cell receptor β chain variable region (TCRVβ) in peripheral blood of clinically isoiated syndrome (CIS) patients. To preliminarily predict the specific TCRVβ fragment of CIS and its diagnostic value for CIS. Methods Hospitalized patients of Beijing Xuanwu Hospital from September 2012 to March 2014, were divided into 2 groups including CIS group (experimental pateints, n=30) and normal control group (healthy volunteers, n=30). The routine immune indexes and expression of TCRVβ subfamilies were detected by flow cytometry. CELL Quest Pro 5.1 software was used to analyze 24 subfamilies of TCRVβ. Calculated the statistic of amplification rate, amplification number and amplification fraction of the total 24 subfamilies of TCRVβ. Results Compared to the normal control group, the quantitative expression of CD4+TCRVβ2, 4, 5.2, 5.3, 7.1, 8, 14, 17, 20, 21.3 and CD8+TCRVβ4, 14 were significantly expanded in CIS group, CD4+TCRVβ11 and CD8+TCRVβ9, 11 were significantly reduced in CIS group (P

Background: Idiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and genotypes in Chinese IBGC patients. Methods: Clinical information of the proband and her relatives were collected comprehensively. Blood samples of both the patient and her father were obtained, and genetic screening related to IBGC was performed using second generation sequencing with their consent. Findings were confirmed by Sanger sequencing. Polyphen-2 was used to predict the potential association between mutations and disease. Then, we retrieved literatures of Chinese IBGC patients and explored the association between phenotype and genotype. Results: A novel mutation was identified through genetic testing, and it is suggested to be a damage mutation predicted by Polyphen-2. Through literature review, we found that SLC20A2 mutation is the most common cause for IBGC in China. Its hot spot regions are mainly on the 1st and 8th exons; the second common one is PDGFB where the hot spot covered a length of 220–230 bp localized on the 2nd exon; moreover, Chinese IBGC patients featured early-onset, more severe movement disorder and relatively mild cognitive impairment compared with those in other countries. Conclusions: There is significant heterogeneity both in phenotype and genotype in Chinese IBGC patients. Further research of pathogenic mechanism of IBGC is required to eventually develop precise treatment for individuals who suffered this disease.

Background: Disease-modifying therapy is the standard treatment for patients with multiple sclerosis (MS) in remission. The primary objective of the current analysis was to assess the efficacy and safety of two teriflunomide doses (7 mg and 14 mg) in the subgroup of Chinese patients with relapsing MS included in the TOWER study. Methods: TOWER was a multicenter, multinational, randomized, double-blind, parallel-group (three groups), placebo-controlled study. This subgroup analysis includes 148 Chinese patients randomized to receive either teriflunomide 7 mg (n = 51), teriflunomide 14 mg (n = 43), or placebo (n = 54). Results: Of the 148 patients in the intent-to-treat population, adjusted annualized relapse rates were 0.63 (95% confidence interval [CI]: 0.44, 0.92) in the placebo group, 0.48 (95% CI: 0.33, 0.70) in the teriflunomide 7 mg group, and 0.18 (95% CI: 0.09, 0.36) in the teriflunomide 14 mg group; this corresponded to a significant relative risk reduction in the teriflunomide 14 mg group versus placebo (−71.2%, P = 0.0012). Teriflunomide 14 mg also tended to reduce 12-week confirmed disability worsening by 68.1% compared with placebo (hazard ratio: 0.319, P = 0.1194). There were no differences across all treatment groups in the proportion of patients with treatment-emergent adverse events (TEAEs; 72.2% in the placebo group, 74.5% in the teriflunomide 7 mg group, and 69.8% in the teriflunomide 14 mg group); corresponding proportions for serious adverse events were 11.1%, 3.9%, and 11.6%, respectively. The most frequently reported TEAEs with teriflunomide versus placebo were neutropenia, increased alanine aminotransferase, and hair thinning. Conclusions: Teriflunomide was as effective and safe in the Chinese subpopulation as it was in the overall population of patients in the TOWER trial. Teriflunomide has the potential to meet unmet medical needs for MS patients in China. Trial Registration: ClinicalTrials.gov, NCT00751881;

Background: Neuromyelitis optica spectrum disorder (NMOSD) was long believed to be an aggressive form of multiple sclerosis (MS). This study aimed to describe the clinical features of patients with MS and NMOSD to assist in differential diagnoses in clinical practice. Methods: Data including the patients' serum and cerebrospinal fluid (CSF) tests, image findings, and clinical information from 175 patients with MS or NMOSD at Xuanwu Hospital, Capital Medical University from November 2012 to May 2014 were collected and analyzed retrospectively. An enzyme-linked immunosorbent assay was performed to detect the myelin oligodendrocyte glycoprotein (MOG) autoantibodies in CSF and serum. Cell-based assays were used to detect aquaporin-4-antibody (AQP4-Ab). The Chi-square test was used to compare the categorical variables. Wilcoxon rank sum test was performed to analyze the continuous variables. Results: Totally 85 MS patients (49%) and 90 NMOSD patients (51%) were enrolled, including 124 (71%) women and 51 (29%) men. Fewer MS patients (6%) had autoimmune diseases compared to NMOSD (19%) (Δ2 = 6.9, P < 0.01). Patients with NMOSD had higher Expanded Disability Status Scale scores (3.5 [3]) than MS group (2 [2]) (Z = −3.69, P < 0.01). The CSF levels of white cell count and protein in both two groups were slightly elevated than the normal range, without significant difference between each other. Positivity of serum AQP4-Ab in NMOSD patients was higher than that in MS patients (MS: 0, NMOSD: 67%; Δ2 = 63.9, P < 0.01). Oligoclonal bands in CSF among NMOSD patients were remarkably lower than that among MS (MS: 59%, NMOSD: 20%; Δ2 = 25.7, P < 0.01). No significant difference of MOG autoantibodies was found between the two groups. Conclusion: The different CSF features combined with clinical, magnetic resonance imaging, and serum characteristics between Chinese patients with MS and NMOSD could assist in the differential diagnosis.

This paper aims to investigate the clinical features and treatment of patients with acutemotor axonal neuropathy (AMAN). The clinical data of 9 patients with AMAN treated in our hospital were retrospectively analyzed from prodromal infections, clinical features, neuroelectrophysiological examination, treatment and the scores of Hughes functional grading scale. Diarrhea was the most common prodromal infection, and weakness of four limbs and muscles atrophy acutely emerged. The patient's condition progressed rapidly. In these cases, therapy of immunoglobulin combined with methylprednisolone was effective. Therefore, early diagnosis and timely treating with immunoglobulin therapy are most important methods to improve the prognosis. DOI: 10.3969/j.issn.1672-6731.2015.12.014

Objective To assess the diffusion changes of normal appearing spinal cord (NASC) in MRI examination in patients with neuromyelitis optica (NMO) and multiple sclerosis (MS). Methods Axial diffusion tensor imaging (DTI) of cervical cord was performed in 10 patients with NMO, 14 patients with MS and 13 sex- and age-matched healthy controls. Mean diffusivity (MD) and fractional anisotropy (FA) were measured in the C2-5 level of spinal cord. Regions of interest (ROIs) were placed in the anterior, lateral, posterior funiculi of spinal cord, and the central gray matter of spinal cord. Results Compared with healthy controls, the values of FA in anterior, lateral and posterior funiculi of spinal cord were significantly decreased (P < 0.05, for all) and MD in left lateral funiculus, posterior funiculus and gray matter were significantly increased (P ≤ 0.05, for all) in NMO group, and the FA values of right lateral and posterior funiculi in MS group were significantly decreased (P < 0.05, for all). Compared with MS group, FA value in patients with NMO was significantly decreased in lateral funiculus, and MD value in left lateral and right posterior funiculi were significantly increased (P < 0.05, for all). Conclusions NASC diffusion abnormalities were found both in patients with NMO and MS. The difference of DTI indicators between NMO and MS patients may offer important information in the early diagnosis and differential diagnosis of NMO and MS. doi: 10.3969/j.issn.1672-6731.2014.10.007

Acute disseminated encephalomyelitis (ADEM) is a disease that is characterized by an immune-mediated inflammatory reaction and demyelination in the central nervous system, including optic nerve, brain and spinal cord, which is common in children, but also appears in adults. ADEM happens probably with a causative relationship to viral diseases or prior vaccinations. It can also occur without any cause. The clinical symptoms of ADEM can begin with fever, headache and meningeal signs, followed by abnormal mental status, seizures and focal neurological signs, such as limb pareses, visual decline and speech disturbances. And their clinical courses may be monophasic, recurrent or multiphasic, mild but also very aggressive. Neuroimaging may be characterized by large demyelinating lesions in the brain involving both the white and the grey matter, and spinal cord. Lesions in ADEM are typically large globular lesions, multiple, and asymmetric, partially with diffuse or ring-like gadolinium enhancement. The diagnosis of ADEM requires both multifocal involvement and encephalopathy by consensus criteria. The differential diagnoses of ADEM include a variety of disorders, such as viral encephalitis, multiple sclerosis, neuromyelitis optica spectrum disorders and primary central nervous system vasculitis, etc. Treatments of ADEM include corticosteroids, intravenous immunoglobulin, plasmapheresis and other immunosuppressive agents.

Objective To assess the diffusion changes of normal⁃appearing spinal cord (NASC) in patients with multiple sclerosis (MS). Methods Axial diffusion tensor imaging (DTI) of the cervical spinal cord was performed in 13 patients with MS and 13 sex ⁃ and age ⁃ matched healthy controls. Fractional anisotropy (FA) and mean diffusivity (MD) measurements were made in the spinal cord at the C2-5 level. Regions of interest (ROIs) were placed in the anterior, lateral, posterior spinal cord, and the central spinal cord. Expanded Disability Status Scale (EDSS) scores were investigated. Study t ⁃ test and Pearman correlation were performed. Results Compared with healthy controls, FA in NASC of patients with MS was significantly decreased in several regions including the left anterior (mean ± SD of 0.44 ± 0.06 versus 0.48 ± 0.04 in control subjects, P = 0.000), right anterior (0.42 ± 0.06 versus 0.48 ± 0.04, P = 0.000), left lateral (0.48 ± 0.06 versus 0.51 ± 0.01, P = 0.001), right lateral (0.49 ± 0.06 versus 0.51 ± 0.03, P = 0.007), and left posterior (0.48 ± 0.06 versus 0.51 ± 0.03, P = 0.002), right posterior (0.48±0.06 versus 0.50 ± 0.03, P = 0.007). Negative correlation was observed between FA reduction with EDSS scores (r = ⁃ 0.328-⁃ 0.207, P = 0.001-0.035). Positive correlation was seen between MD with EDSS scores in ROIs (r = 0.234-0.409, P = 0.000-0.018). Conclusion NASC diffusion abnormalities were found in patients with MS. The association between FA in NASC and EDSS suggests FA may be a potentially quantitative biomarker for monitoring clinical severity of MS with latent lesion. DOI：10.3969/j.issn.1672⁃6731.2012.04.007

Objective To investigate the presence of damage to the normal⁃appearing thalamus in relapsing⁃remitting multiple sclerosis (RRMS) and the relationship of diffusion tensor imaging (DTI) with the degree of disability of patients with RRMS. Methods Conventional MRI and DTI were acquired in 24 patients with relapsing ⁃remitting MS and 24 age ⁃ and sex ⁃ matched healthy volunteers. DTI parameters including fractional anisotropy (FA) and mean diffusivity (MD) were measured in normal⁃appearing thalamus by application areas of interest method. Group differences in MD and FA were examined and correlations between DTI parameters and clinical score of patients or lesion volume were investigated. Results Patients with RRMS had lower thalamic MD [(85.34 ± 14.68) × 10⁃3 mm2/s] than volunteers [(98.42 ± 13.10) × 10⁃3 mm2/s, t = ⁃ 3.257, P = 0.002], and higher FA (0.40 ± 0.04) than volunteers (0.36 ± 0.05, t = 3.163, P = 0.003). In patients with RRMS, MD values correlated with the Paced Auditory Serial Addition Test (PASAT) scores (r = 0.711, P = 0.000). Conclusion DTI was sensitive to detect abnormalities in normal⁃appearing thalamus of patients with RRMS. The association between thalamic DTI indexes and functional impairment suggests DTI is a promising marker of the RRMS for future studies. DOI：10.3969/j.issn.1672⁃6731.2012.02.010

To evaluate clinical outcomes of autologous peripheral blood stem cell transplantation (APBCST) between opticospinal multiple sclerosis (OSMS) and conventional multiple sclerosis (CMS) during disease progressive stage in a Chinese population. Thirty-six secondary progressive MS patients, among whom 21 were with OSMS and 15 with CMS, underwent APBSCT and were followed up for an average of 48.92 months (range, 10-91 months). Peripheral blood stem cells were obtained by leukapheresis after mobilization with granulocyte colony-stimulating factor. Modified BEAM conditioning regimen (Tiniposide, melphalan, carmustin, and cytosine arabinoside) were administered. Outcomes were evaluated using the expanded disability status scale (EDSS). No maintenance treatment was administered if there was no disease progression. No treatment-related mortality occurred. Among the 36 patients, one OSMS patient dropped during the follow-up. Among the 22 relapse-free patients, 20 were with continuous neurological improvement without any relapse events, and two remained in neurologically stable states. Among the 13 relapse patients, seven had experienced of neurological relapse, but with no progression during the follow-up period; and six experienced neurological deterioration after transplantation and needed further immunosuppressant treatment. The confirmed relapse-free survival rate was 62.9% and progression-free survival rate was 83.3% after 91 months according to Kaplan and Meier survival curves. Eleven of the 20 OSMS patients (55%) and two of the 15 CMS patients (13.3%) stayed in disease active group ( P = 0.014). For the 20 OSMS patients, the overall EDSS score decreased significantly after transplantation ( P = 0.016), while visual functions had no significant improvement ( P = 0.716). Progressive OSMS has a higher relapse rate than CMS following APBSCT. [ABSTRACT FROM AUTHOR]