Objective To investigate the differential expression of related proteins in interosseous muscle tissue between patients with familial amyotrophic lateral sclerosis（FALS） and normal individuals in a family using the isobaric tags for relative and absolute quantitation （iTRAQ） technique， to identify the pathogenic proteins for this family， and to provide a basis for treatment. Methods Interosseous muscle tissue samples were collected from all subjects in this family， and the iTRAQ technique was used to perform qualitative and quantitative analyses for all proteins and obtain the expression profile of proteins in the disease group and the normal group. The bioinformatics methods were used to identify the proteins associated with the onset of FALS. A gene ontology（GO）analysis was performed for cell components， and a classification analysis was performed for related proteins. Results A total of 453 proteins were identified by mass spectrometry. The GO analysis obtained 14 differentially expressed proteins between the disease group and the normal group （P<0.05）， and compared with the normal group，the disease group had the low expression of 5 proteins （Ratio<1） and the high expression of 9 proteins （Ratio>1）. Conclusion This study identifies 8 proteins that are highly associated with FALS， i.e.， tripartite motif-containing protein 72， NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1， annexin A1， decorin， glutathione peroxidase 3， collagen alpha-1 （Ⅻ） chain， collagen alpha-2 （Ⅰ） chain， and collagen type I alpha 1 isoform CRA-a. There are 6 proteins that might be associated with FALS， i.e.，26 S protease regulatory subunit 8， laminin subunit alpha-2，prolargin， fibrillin-1， myosin-8， and dermatopontin.
Proteomics

Objective To investigate the level of perceived health competence in patients with hepatolenticular degeneration, also known as Wilson disease (WD), as well as related influencing factors. Methods From January to December 2023, the convenience sampling method was used to select 60 patients with WD as the subjects for this study among the patients who were hospitalized in The Affiliated Hospital of the Neurology Institute of Anhui University of Chinese Medicine, and General Information Questionnaire, Perceived Health Competence Scale, Health Literacy Scale, Perceived Social Support Scale, and Perceived Control Scale were used to investigate the influencing factors for perceived health competence in patients with WD. Results The total score of perceived health competence was （25.85±5.03） in the patients with WD, with an outcome expectancy score of （12.12±3.55） and a behavioral expectancy score of （13.73±3.33）, and the multivariate analysis showed that degree of education and health literacy assessment were influencing factors for perceived health competence in the patients with WD. Conclusions There is a moderate level of perceived health competence in patients with WD, which is influenced by the factors such as degree of education and health literacy assessment.

Objective To investigate the features of surface electromyography （sEMG） signals in patients with lower limb dystonia and hepatolenticular degeneration， also known as Wilson disease （WD）， as well as the feasibility of sEMG as an assessment tool for lower limb dystonia in WD. Methods A total of 36 WD patients with lower limb dystonia （observation group） and 20 WD patients without lower limb dystonia （control group） were enrolled， and 20 normal subjects were enrolled as healthy group. The sEMG technique was used to measure the AEMG， MF， MPF， and iEMG values of the anterior tibial muscle， the gastrocnemius muscle， and the rectus femoris muscle in the walking state， and a Spearman’s rank correlation analysis was used to investigate the correlation of the iEMG value of the rectus femoris muscle in both lower limbs with Activities of Daily Living （ADL）， the neurological subscale of Unified Wilson’s Disease Rating Scale （UWDRS-I）， the Burke-Fahn-Marsden Dystonia Rating Scale （BFMDRS）， the Modified Ashworth Scale， and 10-meter walking time. The observation group and the healthy group were compared in terms of the symmetry index （SI） of the same-named muscles on both sides， and the correlation of SI value with scale scores and walking time was analyzed for the observation group. Results There were significant differences in iEMG values and all electromyography values of the rectus femoris muscle between the three groups （P<0.05）. In the observation group， the iEMG value of the rectus femoris muscle was negatively correlated with the ADL scale and was positively correlated with dystonia-related scales and 10-meter walking time， suggesting that the iEMG value of the rectus femoris muscle could reflect the severity of lower limb dystonia in WD. Meanwhile， there were significant differences in the SI values of bilateral muscles between the observation group and the healthy group （P<0.05）， and for the observation group， the SI values of the muscles were negatively correlated with the ADL scale and were positively correlated with other variables， suggesting that lower limb dystonia in WD was asymmetric， and the degree of asymmetry was positively correlated with the degree of dystonia. Conclusion This study shows that sEMG has a certain application value in assessing lower limb dystonia in WD patients and can be used as an assessment tool for lower limb dystonia in WD.
Dystonia

Hepatolenticular degeneration （HLD），also known as Wilson disease (WD) is an uncommon hereditary disorder of the nervous system， characterized by hepatic impairment， extrapyramidal manifestations， psychiatric symptoms， and renal dysfunction， while impaired vision is a rare comorbidity. This article conducts a retrospective analysis of visual acuity changes， treatment， and prognosis of a female patient， aged 22 years， who were diagnosed with HLD complicated by bilateral neuritis in an affiliated hospital of Anhui University of Chinese Medicine in 2022， and a literature review was performed. The findings suggest that impaired vision is a rare manifestation of HLD. Ophthalmologists should consider the possibility of HLD in patients with optic atrophy and optic neuritis， and early intravenous administration of methylprednisolone may help to improve prognosis.

Objective To investigate the role of specific imaging parameters in the clinical diagnosis and differential diagnosis of multiple system atrophy with predominant cerebellar ataxia （MSA-C）. Methods Imaging data including pontine volume were measured for 34 patients with MSA-C who were admitted to Department of Neurology， Shaanxi Provincial People’s Hospital， from January 2021 to October 2024， and these patients were compared with 9 patients with progressive supranuclear palsy （PSP）， 8 patients with spinocerebellar ataxia （SCA）， and 32 normal controls. Results There was a significant difference in pontine volume between the MSA-C group and the PSP group， as well as between the MSA-C group and the normal control group （P<0.008 3）， while there was no significant difference between the MSA-C group and the SCA group （P>0.008 3）. There was no significant difference in pontine volume between the PSP group and the SCA group and between the PSP group and the normal control group （P>0.008 3）， and there was a significant difference in pontine volume between the SCA group and the normal control group （P<0.008 3）. The receiver operating characteristic （ROC） curve analysis showed that pontine volume had a cut-off value of 8.66 cm3 in the diagnosis of MSA-C， with an area under the ROC curve （AUC） of 0.972， a sensitivity of 94.12%， and a specificity of 100%； pontine volume had a cut-off value of 8.66 cm3 in the differential diagnosis of MSA-C from PSP， with an AUC of 0.961， a sensitivity of 94.1%， and a specificity of 100%； pontine volume had a cut-off value of 6.79 cm3 in the differential diagnosis of MSA-C from SCA， with an AUC of 0.783， a sensitivity of 52.94%， and a specificity of 100%. Conclusion As the most objective indicator for evaluating pontine atrophy， pontine volume has a great significance in the diagnosis and differential diagnosis of MSA-C.
Ataxia

Multiple system atrophy （MSA） is a rare degenerative disease of the nervous system and has diverse and atypical clinical manifestations， and it overlaps with other diseases in α-synuclein spectrum disease. There are great challenges in the diagnosis and early differential diagnosis of the disease， and missed diagnosis and misdiagnosis occur from time to time， thereby delaying the treatment of the disease.Videonystagmography （VNG） is currently the main noninvasive test used to assess vestibular function and can provide different eye movement parameters. Studies have shown the presence of abnormal eye movements in patients with MSA. From the perspective of vision-eye movement， this article reviews the current status of research on eye movements in patients with MSA and reveals the internal connection between them， in order to provide an important reference for the early diagnosis of MSA.
Saccades

Ofatumumab is a fully humanized anti-CD20 monoclonal antibody approved for the disease-modifying treatment of multiple sclerosis in the remission stage. Its Fab segment selectively binds to and inhibits CD20 and induces B-cell lysis， thereby controlling disease progression. This article reviews the research advances in the efficacy and safety of ofatumumab in patients with relapsing multiple sclerosis.

Objective To investigate the association between the pattern of carotid artery calcification and the prognosis of patients with acute cerebral infarction after 3 months of treatment. Methods A total of 112 patients who were diagnosed with acute ischemic stroke （AIS） in our hospital from March 2021 to September 2022 were enrolled as subjects. CT angiography was performed within 24 hours after admission， and the carotid artery was assessed in terms of calcification pattern （no calcification， intimal calcification， and medial calcification） and calcification load （low and high calcification）. After 7 days of treatment， CT reexamination was performed to evaluate hemorrhagic transformation and infarct volume. The patients were followed up for 3 months， and according to the modified Rankin Scale （mRS） score， they were divided into good prognosis group （82 patients with an mRS score of <3 points） and poor prognosis group （30 patients with an mRS score of ≥3 points）. Results Compared with the good prognosis group， the poor prognosis group had a significantly higher proportion of patients with an age of ≥70 years， a mean systolic blood pressure of ≥165 mmHg， a fasting blood glucose level of ≥7.5 mmol/L， an NIHSS score of ≥12 on admission， intimal calcification， medial calcification， high calcification， hemorrhagic transformation， and an infarct volume of ≥50 mm3 （P<0.05）. The multivariate logistic regression analysis showed that NIHSS score ≥12 on admission， intimal calcification， hemorrhagic transformation， and infarct volume ≥50 mm3 were risk factors for poor prognosis （P<0.05）. Conclusion Intimal calcification of the carotid artery may be associated with the poor short-term prognosis of AIS patients， which can be used as a new noninvasive indicator for predicting prognosis.
Prognosis

摘要 目的 探讨孤立性基底节区腔隙性脑梗死早期神经功能恶化（END）的相关影响因素。方法 连续性收集2020年1月—2023年12月就诊于郑州大学人民医院的孤立性基底节区腔隙性脑梗死患者236例，临床资料完整，根据是否出现END将患者分为END组59例及非END组177例，比较患者一般资料，使用多因素二元Logistic回归分析基底节区腔隙性脑梗死患者发生END的影响因素。结果 急性孤立性基底节区腔隙性脑梗死END发生率为25%（59/236），END组病灶累及内囊后肢患者比例、入院NIHSS评分、HbA1c水平、收缩压、女性均高于非END组，两组比较差异有统计学意义（P<0.05）。多因素二元Logistic回归模型分析显示病灶累及内囊后肢（OR=3.167，95%CI 1.305~7.690，P=0.011）是END发生的独立危险因素，HbA1c水平（OR=6.368，95%CI 1.555~26.075，P=0.010）、入院NIHSS评分（OR=2.019，95%CI 1.236~3.299，P=0.005）、收缩压（OR=1.626，95%CI 1.373~1.926，P<0.001）是END发生的相关危险因素。结论 孤立性基底节区腔隙性脑梗死END发生率较高，与病灶累及内囊后肢、入院NIHSS评分高、HbA1c水平升高、收缩压高相关。 Abstract Objective To identify influencing factors for early neurological deterioration （END） in isolated basal ganglia lacunar infarction （iBGLI）. Methods Clinical data were continuously collected from 236 patients with iBGLI confirmed by magnetic resonance imaging between January 2020 and December 2023. The patients were divided into END group （n=59） and non-ED group （n=177） according to the presence or absence of END. General patient information was compared between the two groups， and factors influencing the occurrence of END in patients with iBGLI were identified by multivariate binary logistic regression. Results The incidence of END in acute iBGLI was 25% （59/236）. The percentage of patients with lesions affecting the posterior limb of the internal capsule， admission NIHSS score， HbA1c level， systolic blood pressure， and number of females were significantly higher in the END group than in the non-END group （all P<0.05）. Multivariate binary logistic regression showed that lesions affecting the posterior limb of the internal capsule （odds ratio （OR=3.167，95%CI 1.305~7.690，P=0.011） was an independent risk factor for the development of END，whereas HbA1c level（OR=6.368，95%CI 1.555~26.075，P=0.010）， admission NIHSS score（OR=2.019，95%CI 1.236~3.299， P=0.005）， and systolic blood pressure（OR=1.626，95%CI 1.373~1.926，P<0.001） were associated risk factors for END. Conclusion The higher incidence of END in iBGLI is associated with lesions affecting the posterior limb of the internal capsule， admission NIHSS score， HbA1c level， and systolic blood pressure.
Prognosis

Objective To investigate the safety and efficacy of mechanical thrombectomy combined with umbilical cord blood mononuclear cell microtransplantation in the treatment of patients with acute ischemic stroke due to large vessel occlusion. Methods A prospective study was conducted among 61 patients with acute ischemic stroke due to large vessel occlusion in the anterior intracranial circulation who underwent mechanical thrombectomy in our hospital from February 2021 to February 2023， and they were randomly divided into experimental group and control group. The patients in the experimental group underwent mechanical thrombectomy combined with umbilical cord blood mononuclear cell microtransplantation， while those in the control group underwent mechanical thrombectomy alone， and there was no difference in conventional drug treatment between the two groups. The Mann-Whitney U test， chi-square test， and logistic regression analysis were used， with P<0.05 indicating statistical significance. Results There were no significant abnormalities in blood tests and imaging findings in either group at 90 days and 6 months after treatment. There was no significant difference in the degree of neurological deficit （NIHSS score） between the two groups before surgery and on days 1，3，7， and 30 after surgery （P>0.05）. The experimental group had a higher overall response rate （the proportion of patients with an mRS score of ≤2 on day 90 after surgery） than the control group [41.4% （12/29） vs 32.2% （10/31）， P>0.05]. There was no significant difference in limb motor function [Fugl-Meyer Assessment （FMA） score] between the two groups before surgery（P>0.05）， and the experimental group had a better FMA score than the control group on day 90 after surgery（P<0.05）. Conclusion Mechanical thrombectomy combined with umbilical cord blood mononuclear cell microtransplantation can effectively improve the long-term functional prognosis of patients， with a favorable safety profile.