The effect of treatment duration with human urinary kallidinogenase on the efficacy and safety of acute ischemic stroke: a subgroup analysis of RESK study / 中华神经科杂志

Objective:To explore the impact of treatment duration with human urinary kallidinogenase (HUK) on the efficacy and safety of acute ischemic stroke (AIS).Methods:In this subgroup analysis of RESK study, a total of 990 AIS patients recruited from 65 centers in China between August 2015 and June 2020 were included and divided into short medication group (HUK for 8 days, n=185) or long medication group (HUK for 15 days or 21 days, n=805). The proportions of patients with modified Rankin Scale (mRS) score of 0, 0-1, 0-2 at 90 days, National Institutes of Health Stroke Scale (NIHSS) score change from baseline to 22 days, the proportions of patients with Barthel index (BI)≥95 at 90 days, and the incidences of adverse events were analyzed. Comparisons between groups were conducted using chi-square test, single factor and multivariate Logistic regression analysis, etc. Results:Multivariate regression analysis showed that the proportions of patients with 90-day mRS score of 0-2 [74.1% (137/185) vs 75.0% (604/805); OR=1.047, 95% CI 0.676-1.620, P=0.838] and 22-day NIHSS score change from baseline (4.60±2.00 vs 4.26±2.80; OR=-0.390, 95% CI -1.125-0.344, P=0.297) showed no statistically significant difference between the short medication and long medication groups; the proportions of patients with 90-day mRS score of 0-1 [48.1% (89/185) vs 59.1% (476/805); OR=0.674, 95%CI 0.463-0.983, P=0.041] and 90-day BI≥95 [43.6% (79/181) vs 55.1% (442/802); OR=0.614, 95%CI 0.420-0.897, P=0.012] were significantly lower in the short medication group than in the long medication group. There was no statistically significant difference in the incidences of adverse events between these 2 groups. Conclusions:In AIS patients, consecutive 8-day dosing of HUK improved immediate (22-day NIHSS score) and long-term outcome (90-day mRS score 0-2) and was safely tolerated. When applicable, extended duration of HUK could improve long-term disability-free rate (90-day mRS score 0-1) and quality of life (90-day BI) without increasing the risk of adverse events.

The key points in diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy / 中华神经科杂志

The diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy relies on clinical features, demyelinating changes on motor and sensory nerve conduction studies, elevated cerebrospinal fluid protein, peripheral nerve image, nerve pathology, and response to immune therapy. Each diagnostic proof should be interpreted in light of clinical background and other findings, to avoid misdiagnosis or overdiagnosis, treatment delay or unnecessary treatment with immunotherapy.

Screening for NOTCH2NLC gene dynamic mutation in patients with essential tremor / 基础医学与临床

Objective To identify the pathogenic variants in 110 patients with essential tremor(ET).Methods Clinical data and peripheral blood samples of ET patients were collected from the Department of Neurology of Peking Union Medical College Hospital and then the genomic DNA was extracted.Dynamic mutation detection of NOTCH2NLC was performed in patients with essential tremor by triplet repeat primed PCR(TP-PCR).Since ET is as-sociated with multiple mechanisms of neuro-degeneration,the next generation sequencing(NGS)panel targeting neu-rodegenerative associating genes were performed to check pathogenic variants in additional genes.Results A total of 110 ET patients and 187 matched control individuals were recruited.The age of onset in the current ET group was(36.30±17.64)years,and 74.8%patients had a family history.No abnormal trinucleotide repeat expansion in NOTCH2NLC was identified.The repeat number of(GGC)n lied within normal ranges between 10－47(average 18.6±5.4).Variants burden analysis showed association of ET with PLA2G6.Three rare variants in four patients in PLA2G6 were identified with unknown significance.Conclusions Dynamic mutations of NOTCH2NLC are uncom-mon in ET patients and that suggests need of more researches for further exploring the genetic mechanism of ET.

Clinical and electrophysiological characteristics of patients with facial onset sensory motor neuronopathy syndrome / 中华神经科杂志

Objective:To investigate the clinical and electrophysiological characteristics of facial onset sensory motor neuronopathy (FOSMN) syndrome.Methods:Ten patients diagnosed with FOSMN syndrome in Peking Union Medical College Hospital from January 2012 to December 2022 were included. The clinical and electrophysiological characteristics of patients were analyzed and summarized, and the genetic testing was also performed in these patients.Results:The age of onset was (56.6±6.5) years, and the longest survival duration of disease was 10 years. All patients had numbness around the face and mouth as the first symptom and abnormal blink reflex. A total of 52 sensory nerve conduction nerves were detected, among which 2 median nerves and 2 μlnar nerves showed decreased amplitude of sensory nerve action potential. Needle electromyography showed neurogenic lesions, with both progressive and chronic denervation. Whole exome sequencing identified the heterozygous variant c.272A>C in the exon 4 of the SOD1 gene resulting in the amino acid change p.Asp90Ala in 1 patient. In all patients, the disease progressed relentlessly and eventually led to involvement of respiratory muscle. Conclusion:FOSMN syndrome is characterized by abnormal blink reflex and sometimes abnormal sensory nerve conduction may be shown on electrophysiologic testing.

SPTLC2 gene mutation leads to childhood amyotrophic lateral sclerosis: a case report and literature review / 中华神经科杂志

Objective:To report the clinical characteristics of a case of childhood amyotrophic lateral sclerosis (ALS) caused by SPTLC2 c.778G>A (p.Glu260Lys) mutation. Methods:Whole exon sequencing or whole genome sequencing data from 1 936 patients in the ALS cohort of Peking Union Medical College Hospital were screened for SPTLC2 gene mutations. Clinical data, laboratory examination, neurophysiological examination and genetic test results of the proband were collected. Results:Only one 9-year-old male child with SPLTC2 gene mutation was found. He was admitted to the Department of Neurology, Peking Union Medical College Hospital in December 2022 due to"progressive limb weakness for more than 4 years". Physical examination revealed atrophy and fasciculations of the tongue. Weakness of 4 limbs, muscle atrophy, as well as bilateral hyperreflexia, clonus, and Babinski sign were present. Whole genome sequencing indicated that SPTLC2 gene had c.778G>A (p.Glu260Lys) missense mutation, and no other pathogenic mutations of ALS related genes were detected. Sanger sequencing and family verification showed that neither father nor mother carried the mutation, suggesting that it was a de novo mutation. Nerve conduction velocity test showed no abnormalities, and electromyography suggested neurogenic lesions. Neurofilament light chain in cerebrospinal fluid and serum were increased significantly. The patient′s symptoms continued worsening even after oral administration of L-serine. Conclusion:SPTLC2 gene mutation can cause childhood ALS, and further study of its potential pathogenesis is helpful to uncover another potential pathway of ALS and a novel therapeutic target.

A multicenter study to evaluate the disease burden and health economics of inpatients with multiple sclerosis in China.

OBJECTIVE: To assess the disease burden and health economics of inpatients with multiple sclerosis (MS) in China by evaluating the direct, indirect, and intangible costs. METHODS: A total of 863 patients were included for a cross-sectional retrospective study in 50 centers. The direct economic burden was measured by the cost of hospitalization and out-of-hospital application drugs, and the indirect economic burden was measured by the human capital method. The disability-adjusted life year (DALY) was used to express the intangible economic burden. Cost-utility analysis (CUA) using DALYs as indicators of health benefits was performed by calculating the incremental cost-utility ratio. RESULTS: The mean direct economic burden/year, daily medication expenses/year, DALY, indirect economic burden, and indirect economic burden/year were 27,655.57 Yuan, 17,944.97 Yuan, 10.89 Yuan, 512,041.7 Yuan, and 11,299.85 Yuan, respectively. For the study period of two years, the direct economic burden, daily medication expense, and indirect economic burden were 48.6%, 31.5%, and 19.85% of the total economic burden, respectively. Disease burden and the number of episodes of remission were not statistically significant (p>0.001). The direct economic burden and total economic burden of the disease-modifying therapy (DMT) group were higher than those of the non-DMT group, but DALYs had no statistical significance (p>0.001). CUA showed that inpatients with MS in the DMT group received a DALY every time compared with the non-DMT group. CONCLUSION: The DALY losses are concentrated in young and middle-aged Chinese people. In this two-year study, CUA prompted the application of DMT drugs to increase the economic burden and DALYs. However, follow-up time is still short, and further follow-up observation is required.

Effects of cinepazide maleate injection on blood pressure in patients with acute ischemic stroke and hypertension / 中华内科杂志

Objective:To investigate the blood pressure change in patients with acute ischemic stroke (AIS) and hypertension treated with cinepazide maleate injection.Methods:This was a subgroup analysis of post-marketing clinical confirmation study of cinepazide maleate injection for acute ischemic stroke: a randomized, double-blinded, multicenter, placebo-parallel controlled trial, which conducted in China from August 2016 to February 2019. Eligible patients fulfilled the inclusive criteria of acute anterior circulation ischemic stroke with National Institutes of Health Stroke Scale (NIHSS) scores of 7-25. The primary endpoints were mean blood pressure of AIS patients treated with cinepazide maleate or control, which were assessed during the treatment period (14 days), and the proportion of the patients with normal blood pressure was analyzed after the treatment period. Furthermore, a subgroup analysis was performed to investigate a possible effect of the history of hypertension on outcomes.Results:This analysis included 809 patients with hypertension. There was no significant difference in patients blood pressure and the proportion of patients with normal blood pressure (60.5% vs. 59.0%, P>0.05) between cinepazide maleate group and control group. Conclusion:Administration of cinepazide maleate injection does not affect the management of clinical blood pressure in patients with AIS.

Minutes of the 24th National Conference of Neurology of Chinese Medical Association / 中华神经科杂志

The 24th National Conference of Neurology of Chinese Medical Association was held in Zhuhai City, Guangdong Province during September 23-26,2021.The conference adopted a combination of online and offline methods, with a total of 2 plenary meetings, 20 special seminars, 284 invited reports, 382 papers exchanged at the conference and 1 088 papers exchanged on the wall. The conference focused on cerebrovascular diseases, epilepsy, cognitive disorders, myopathy, peripheral neuropathy, neurodegenerative diseases, nerve infectious diseases, demyelinating diseases, neuroimmune diseases, genetic and metabolic nerve diseases, nerve rehabilitation, anxiety and depression, headache, sleep disorders, nerve nursing, nerve intervention, neuroimaging, neuroelectrophysiology, translational medicine, precision medicine and other related nervous system diseases. There were more than 7 000 participants who attended this conferece.

Anti-amphiphysin-associated paraneoplastic brainstem encephalitis with esophageal neuroendocrine carcinoma: a case report / 中华神经科杂志

Paraneoplastic neurological syndromes (PNS) are heterogeneous disorders caused by autoimmune responses of cancer, which can affect any part of the nervous system. Anti-amphiphysin antibody is one of the high-risk PNS antibodies, which is usually associated with small cell lung cancer and breast cancer. However, extrapulmonary neuroendocrine carcinoma is rare in patients with anti-amphiphysin antibody. A case of anti-amphiphysin-associated paraneoplastic brainstem encephalitis with esophageal neuroendocrine carcinoma is reported. The tumor was detected by fluorine 18 fluorodeoxyglucose positron emission tomography and pathologically confirmed by gastroscopic biopsy. The patient′s neurological symptoms were partially improved after treatment of intravenous immunoglobulin and glucocorticoids. However, the disease prognosis is closely related to the accompanying tumor.

Spinal Muscular Atrophy: History, Current Status and Future / 罕见病研究

It has been a hundred years since the first case of spinal muscular atrophy(SMA) was reported in the medical literature. In its 100 years of history, medical development for the cure of SMA has gone through many stages, from clinical manifestation description, accumulation of cases, disease classification exploration to pathogenic gene mapping and cloning, clinical application of gene diagnosis, animal model establishment then to R&D of disease modifying drugs and clinical use of novel therapies. The future of the development lies in breakthrough in pathophysiological mechanism, carrier screening and precise prevention, as well as new therapies. As a representative of monogenic rare diseases, review the history of the progress in diagnosis and treatment and R&D in medications and discuss the prospect of further development in the future is instrumental in leading the continued advancement of the whole cause of rare disease.

Anti-Leucine-Rich Glioma-Inactivated 1 Encephalitis: A Single-Center Cohort Study in China / 罕见病研究

  Objective  To evaluate the clinical and paraclinical features of Chinese patients with anti- LGI1 encephalitis.  Methods  Patients with memory deficits, psychiatric symptoms, seizures or altered level of consciousness, suspicious of encephalitis, at presentation to Peking Union Medical College Hospital were recruited between July 2013 and January 2018, and tested for anti-LGI1 antibodies in their serum and/or cerebrospinal fluid(CSF) samples. Patients with anti-LGI1 antibodies were enrolled. The demographic characteristics, clinical manifestations, laboratory examination results, neuroimaging features, immunotherapy, follow-up practices and outcomes for included patients were registered and analyzed.  Results  The study enrolled 120 patients, of whom 66.7% were male. The median age was 61 years (interquartile range [IQR]: 49-66 years). Seizures(65.0%) were the most common initial symptoms. Most patients developed seizures (95.0%), including faciobrachial dystonic seizures (54.2%), memory deficits (92.5%), and psychiatric symptoms (69.1%). Brain MRI and 18F-FDG PET / CT showed that the lesions were mainly located in unilateral or bilateral medial temporal lobes, and (or) basal ganglia. Of the patients, 95.0% received intravenous immunoglobulin (IVIg) or corticosteroids, 47.5% received mycophenolate mofetil as long-term immunotherapy, and no one received second-line immunotherapy. The median follow-up was 34.2 months(IQR: 22.0-45.6 months). 91.2% had a good outcome (modified Rankin Scale score≤2 points). Residual mild memory deficits were present in 47.8% of the patients. Nine deaths were documented. Relapses occurred in 24.8% of the patients in the first year. In total, 24 (20%)cases were young patients(onset age ≤45 years).There were fewer males among the younger patients(37.5% vs. 74.0%, P < 0.01). Besides, there were fewer younger patients with psychiatric symptoms(50.0% vs. 74.0%, P=0.02), hyponatremia(33.3% vs. 68.8%, P < 0.01), and abnormalities on brain 18F-FDG PET/CT(20.8% vs. 47.9%, P=0.02). The relapse-free survival rate was significantly higher in the young patients.  Conclusions  Elderly males were predominant in patients with anti-LGI1 encephalitis. Most patients developed symptoms of limbic encephalitis and/or FDBS during the disease course. Several patients were young adults and lacked typical symptoms. Neuroimaging features were consistent with the involvement of limbic system or basal ganglia. Patients with anti-LGI1 encephalitis respond well to immunotherapy, irrespective of the age.

The Progression and Problems in Diagnosis and Treatment of Rare Neurological Diseases / 罕见病研究

Rare neurological diseases contain of a great variety of different disease and difficult to diagnose and cure. In the past years, many drugs are approved for treatment of the rare diseases, bringing hope to patients. However, these drugs are usually very expensive, so clinicians and patients have to face the delimma of the accessibility and appropriate usage of these drugs. On the other hand, there are many rare diseases could be treated by cheaper drugs. However, diagnosis of those rare diseases is challenging and clinician's lacking knowledge of the rare diseases leads to delay in diagnosis. Improving the competence in early diagnosis of rare neurological diseases is essential for the patients to live a quality life.

The changes in European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy / 中华神经科杂志

European Academy of Neurology/Peripheral Nerve Society revised the guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Typical CIDP and CIDP variants were distinguished. The levels of diagnostic certainty of CIDP and possible CIDP can be defined according to the changes in motor and sensory nerve conduction studies. The utility of cerebrospinal fluid, peripheral nerve image, and nerve biopsy in diagnosis of CIDP was suggested. Serum auto-antibodies, including anti-nodal and paranodal antibodies, anti-myelin-associated glycoprotein antibodies were discussed. Monoclonal protein should be tested routinely in CIDP. Principles for treatment of CIDP were recommended. This guideline updated the development in CIDP and is more suitable for clinical practice.

Relapse risk analysis in anti-aquaporin 4-IgG positive neuromyelitis optica spectrum disorders patients treated with immunosuppressant / 中华神经科杂志

Objective:To investigate the relapse risk factors of anti-aquaporin 4 (AQP4)-IgG positive neuromyelitis optica spectrum disorders (NMOSD) patients treated with immunosuppressant.Methods:Data (from January 2011 to June 2021) of AQP4-IgG positive NMOSD patients treated with immunosuppressant for longer than 5 years from MSNMObase, a hospital-based electronic registry for multiple sclerosis and related disorders in Peking Union Medical College Hospital, were collected. Clinical features and risk factor differences between patients with and without relapse under the immunosuppressive therapy were analyzed.Results:One hundred and twelve patients with AQP4-IgG positive NMOSD were included, 105 (93.8%) of which were female. The disease onset age was (34.9±11.3) years, 13(11.6%) had an older disease onset age than 50 years (late onset), and the disease duration was 8.1 (6.6, 11.4) years. Sixty-four (57.1%) patients had relapse, and the proportion of late onset patients was significantly lower in relapse group than in non-relapse group [4/64(6.3%) vs 9/48(18.8%), χ2=4.18, P=0.041]. Compared with those without relapse, both the annualized relapse rate (ARR) before treatment [1.07 (0.36, 2.25) vs 0.34 (0, 1.11), Z=2.92, P=0.003] and the proportion of patients with relapse before treatment [54/64(84.4%) vs 33/48(68.8%), χ2=3.86, P=0.049] were significantly higher for patients in relapse group. Multivariate Logistic regression analysis revealed the relapse risk of late-onset patients was lower than that of early-onset patients ( HR=0.26, 95% CI 0.10-0.73, P=0.010) and patients with higher ARR before treatment showed a higher risk of relapse under the immunosuppressive therapy ( HR=1.55,95% CI 1.26-1.91, P<0.001). Conclusion:AQP4-IgG positive NMOSD patients with younger disease onset age than 50 years or with frequent relapses before treatment had a higher relapse risk under the immunosuppressive therapy, and they may need highly effective treatments.

Efficacy and safety of cinepazide maleate injection in acute ischemic stroke patients with obvious motor function deficit / 中华神经科杂志

Objective:To confirm the efficacy and safety of cinepazide maleate injection in acute ischemic stroke patients with obvious motor function deficit.Methods:This study is a subgroup analysis of multi-center, randomized, double-blind, placebo-controlled phase Ⅳ clinical trial. A total 812 patients of acute ischemic stroke with obvious limb motor deficit [motor function of limbs score in National Institutes of Health Stroke Scale (NIHSS) ≥4] were enrolled in this subgroup analysis. Patients received either cinepazide maleate injection or placebo. The treatment period was 14 days and follow-up was 90 days. The efficacy endpoints included the proportions of patients with a modified Rankin Scale (mRS) score ≤2, mRS score ≤1 and Barthel Index <95 on day 90. Safety was evaluated by recording all adverse events, monitoring vital signs, laboratory parameters and electrocardiogram.Results:A total of 732 patients were involved in the final efficacy analysis (361 in cinepazide maleate group and 371 in control group). The baseline limb motor function score of NIHSS was 5.23±1.43 in the cinepazide maleate group whereas 5.20±1.36 in the control group. Logistic regression analysis showed that following treatment for 90 days, the proportion of patients with a mRS score ≤2 was significantly higher in the cinepazide maleate group than in the control group [56.0% (202/361) vs 44.2% (164/371), OR=0.60, 95% CI 0.44-0.82, P=0.002]. The proportion of patients with a mRS score ≤1 was higher in the cinepazide maleate group than in the control group [43.3% (139/361) vs 35.2% (118/371), OR=0.69, 95% CI 0.50-0.97, P=0.031]. The proportion of patients with a Barthel Index <95 on day 90 was significantly lower in the cinepazide maleate group than in the control group [45.2% (145/361) vs 55.2% (185/371), OR=0.64, 95% CI 0.46-0.88, P=0.007]. During the treatment and follow-up period, the incidence of the most common adverse events in the cinepazide maleate group was 50.4% (199/395). Constipation and abnormal liver function were more common, but there were no statistically significant differences between the two groups. Conclusion:Cinepazide maleate injection is superior to placebo in improving neurological function and activities of daily living, reducing disability, and promoting functional recovery and safe in patients with acute ischemic stroke with obvious limb motor deficit.

Recent research focus in peripheral neuropathy / 中华神经科杂志

Peripheral neuropathy consists of a group of diseases due to different pathogenesis. This article discussed the recent research focus in four categories of peripheral neuropathies, including immune mediated neuropathy, diabetic neuropathy, hereditary neuropathy and chemotherapy-induced neuropathy.

Progress in diagnosis and treatment of antibody-related autoimmune cerebellar ataxia / 中华神经科杂志

Cerebellar ataxia mediated by autoimmune mechanisms is a common cause of sporadic cerebellar ataxia. According to the presence of underlining malignancy, autoimmune cerebellar ataxia (ACA) can be divided into paraneoplastic ACA and non-paraneoplastic ACA. The typical manifestations of various types of ACA include gait disorder, limb and trunk ataxia, mild inflammatory response and specific oligoclonal bands in cerebrospinal fluid. Immunosuppressive therapy might be effective. Anti-neuronal antibodies are of great significance to the diagnosis of ACA, and the discovery of the new antibody profile has promoted a deeper understanding of ACA. This article reviews the clinical features and progress of diagnosis and treatment of ACA.

Clinical characteristics in 40 patients with longitudinally extensive transverse myelitis and connective tissue disease / 中华内科杂志

Objective:Longitudinally extensive transverse myelitis (LETM) could be seen in patients with connective tissue disease (CTD), especially systemic lupus erythematosus (SLE) or primary Sj?gren′s syndrome (pSS). Some patients are combined with neuromyelitis optica spectrum disorders (NMOSD)(termed CTD-LETM-NMOSD) while others without (termed CTD-LETM-non-NMOSD). The aim of this study is to compare the clinical characteristics of CTD-LETM-NMOSD patients to CTD-LETM-non-NMOSD patients.Methods:We retrospectively collected data from 40 CTD patients with LETM who were admitted to the Department of Neurology or Rheumatology at Peking Union Medical College Hospital from Jan, 2006 to Dec, 2016. They were divided into CTD-LETM-NMOSD and CTD-LETM-non-NMOSD two groups. Demographic characteristics, clinical and laboratory features were obtained from the database. Relapse rates and clinical outcome were analyzed by Kaplan-Meier method.Results:Among 40 patients with CTD, 28 (70.0%) were NMOSD while 12 (30.0%) were not. The positivity rates of anti-SSA, antibodies to aquaporin-4 (anti-AQP4) were significantly higher in patients with NMOSD than those in patients with non-NMOSD ( P<0.05). Age, gender, clinical features, disease duration, anti-double-stranded DNA antibody, anti-ribosomal P antibody, antiphospholipid antibodies, expanded disability status scale (EDSS) scores, and magnetic resonance imaging (MRI) features were all comparable between two groups. CTD-NMOSD patients had significantly higher disease relapse rate (75.0% vs. 3/12, P<0.01). Conclusion:Anti-SSA and anti-AQP4 positivity is associated with NMOSD and higher relapse rates, which suggests that NMOSD in CTD-LETM patients may represent distinct characteristics and pathogenesis from patients with CTD-LETM-non NMOSD.

Study on the correlation between mesencephalic structural characteristics and motor function in patients with cerebral small vessel disease / 中华神经科杂志

Objective:To explore whether there were changes in midbrain morphology related to motor function in patients with cerebral small vessel disease (CSVD).Methods:The study was conducted on a subset of patients with CSVD registered at the Department of Neurology of Peking Union Medical College Hospital from 2010 to 2018. All magnetic resonance imaging images were taken with a 3.0 T nuclear magnetic resonance imager. The measurement of anteroposterior diameter of the mesencephalon and the tegmentum of mesencephalon was performed on a personal computer with the image processing software RadiAnt DICOM Viewer. Several clinical manifestations of dyspraxia, dysphagia, dysarthria and dysuria were evaluated by interviewing the patient and family members living with the patient. Kinect depth camera combined with self-developed software platform was used to conduct quantitative evaluation of patients′ motor function. Three parameters, namely walking speed, walking time of three meters and time of standing up and sitting down, were selected from the obtained parameters. SPSS 17.0 software was used for statistical analysis.Results:A total of 176 patients were included, aged 30-88 (64.16±11.57) years. One hundred and fifteen patients were males, accounting for 65.34%. In patients with CSVD, anteroposterior diameter of the mesencephalon and the tegmentum of mesencephalon were negatively correlated with age ( B=-0.032, P<0.001; B=-0.020, P=0.006). The anteroposterior diameter of the mesencephalon was negatively correlated with symptoms of dyskinesia ( OR=0.006, 95% CI 0-0.135, P=0.001), even when the age and gender were adjusted ( OR=0.014,95% CI 0-0.416, P=0.013). The anteroposterior diameter of the mesencephalon was negatively correlated with symptoms of dysuria ( OR=0.046,95% CI 0.002-0.936, P=0.045), but no longer correlated when the age and gender were adjusted. The anteroposterior diameter of tegmentum of mesencephalo was also negatively correlated with symptoms of dyskinesia ( OR=0.035,95% CI 0.002-0.684, P=0.027), but no longer correlated after adjusting for age and gender. Video recording and evaluation of motor function were performed on 87 patients. Spearman correlation analysis showed that none of the three motor function scores was correlated with age or gender. The anteroposteric diameter of the midbrain was positively correlated with walking speed ( r=0.231 ,P=0.040) and negatively correlated with walking time of three meters ( r=-0.304, P=0.005), but not with standing up and sitting down time, while the anteroposteric diameter of tegmentum of mesencephalo was not correlated with all of them. Conclusion:There are changes in mesencephalon morphology in patients with CSVD, structural parameters of mesencephalon are related to motor function and urination function, and mesencephalon atrophy may be an independent related factor for symptoms of dyskinesia in patients with CSVD.

Clinical and laboratory findings of patients with anti-dipeptidyl-peptidase-like protein 6 encephalitis: two cases report / 中华神经科杂志

Objective:To identify anti-dipeptidyl-peptidase-like protein 6 (DPPX) antibody in patients with encephalitis of unknown etiology and describe the clinical features of anti-DPPX antibody-associated encephalitis in Chinese patients.Methods:For patients registered in the Peking Union Medical College Hospital Encephalitis and Paraneoplastic Syndrome Registration Project from 2016 to 2019 with negative findings in autoimmune encephalitis routine antibody profile and paraneoplastic antibody profile, but with positive tissue-based assay (TBA) results, further tests for rare antibodies, including cell-based assay (CBA) of anti-DPPX antibody, were performed. Patients positive for anti-DPPX antibody were enrolled and the clinical data were collected.Results:Two patients with anti-DPPX antibody-associated encephalitis were found from 2016 to 2019 among about 15 000 patients. Both were females, aged 46 and 75 years. One patient had diarrhea, cachexia, cognitive dysfunction, agitation, myoclonus, tremor, and seizures. The other had cognitive impairment, restlessness, memory loss, disorientation, and sleep disturbance. The second patient had medical history of systemic lupus erythematosus and secondary Sj?gren′s syndrome.Conclusions:TBA should be combined with CBA in identification of anti-DPPX antibody to confirm the diagnosis. Anti-DPPX antibody-associated encephalitis has clinical manifestations of encephalopathy with diarrhea and cachexia, and can coexist with systemic lupus erythematosus.