Objective:To explore the clinical characteristics and prognoses of severe autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A).Methods:A retrospective analysis was performed. The clinical data of 12 patients with severe GFAP-A admitted to Department of Neurology, Guangdong 999 Brain Hospital from January 2018 to June 2023 were collected, including demography, clinical manifestations, MRI features, laboratory examination results (such as antibodies), treatments and prognoses.Results:Among the 12 patients, 9 were male and 3 were female, with an average onset age of (46.58±17.53) years. Primary symptoms included headache, limb weakness, limb numbness, mental disorder, epileptic seizure, and urinary and defecation disorder; 9 patients had fever before onset. With aggravated severe GFAP-A, 12 patients had impaired consciousness, 12 had respiratory failure, 6 had unstable blood pressure and heart rate, and 2 had status epilepticus. Cranial MRI indicated abnormal lesions in all 12 patients, including 10 with brainstem involvement (7 had involved medulla oblongata); 10 showed soft meningeal enhancement. In 8 patients received MRI of the whole spinal cord, 7 had abnormal spinal cord lesions; point-like enhancement of the whole spinal meninges was observed in 6 of the 7 patients. All 12 patients had positive cerebrospinal fluid GFAP-IgG, and 3 patients also had positive serum GFAP-IgG. All patients accepted glucocorticoids and immunoglobulin immunotherapy, and 1 patient was supplemented with mycophenolate mofetil; 8 patients had good prognosis, and 4 patients died. Pulmonary infection, hyponatremia, hypoproteinemia, and deep vein thrombosis were the common complications.Conclusion:Patients with severe GFAP-A mainly manifest as meningoencephalitis and meningoencephalomyelitis, and are likely involved medulla oblongata, enjoying rapid clinical progression; even with early immunotherapy, high mortality rate is still noted.

Primary central nervous system T-cell lymphomas (PCNSTL) are rare, the clinical symptoms and radiographic imaging of which are unspecific, and the pathological morphology is antypical, leading to misdiagnosis and delays in treatment. A 45-year-old male patient with diplopia accompanied by numbness and dysarthria was reported in this paper, which was considered as "lymphoma or lymphoproliferative lesions" on magnetic resonance imaging (MRI) while no typical tumor cells in brain biopsy. The clinical symptoms worsened one month later and the reexamined MRI showed that the scope of the lesion was enlarged and the enhancement was more obvious than before, which was still considered as lymphoma or lymphoproliferative lesion. The second biopsy was performed and still no typical tumor lymphocytes were seen. Finally, gene rearrangement was carried out and showed the β and γ chains both present positive mutations in T cell receptor (TCR) gene rearrangement. Combined with cell morphology, immunophenotype and TCR gene rearrangement results, the patient was finally diagnosed as PCNSTL. This article reviewed the clinical symptoms, imaging features, laboratory examinations, pathological characteristics, diagnosis and differential diagnosis of PCNSTL, so as to improve the understanding of this rare disease.

Objective:To analyze the clinical characteristics of hereditary diffuse leukoencephalopathy with spheroids (HDLS).Methods:A retrospective analysis was performed. The clinical data of 2 patients with genetically conformed HDLS, admitted to our hospital in August 2020 and October 2021, were collected; and a literature search was conducted in domestic and foreign databases from January 2012 to January 2022 (enrolling a total of 48 patients with HDLS caused by colony-stimulating factor-1 receptor [ CSF1R] gene mutation). The population, clinical, imaging and gene mutation characteristics of these patients were summarized and analyzed. Results:(1) In these 50 patients, 20 were male and 30 were female, with onset age of (40.72±11.27) years; 40 patients (80.0%) had been misdiagnosed. (2) The most common first symptom and sign were progressive cognitive impairment (74.0%) and progressive dementia (80.0%). The patients in the middle and old aged group (≥40 years old, n=31) had significantly higher incidences of progressive cognitive impairment and Parkinson's-like symptom, and statistically lower incidence of muscle weakness as compared with those in the youth group (<40 years old, n=19, P<0.05). (3) The highest incidence of abnormal imaging findings was white matter lesions (100.0%), followed by cerebral atrophy (84.0%), ventricular enlargement (84.0%) and corpus callosum atrophy (60.0%). DWI examination was completed in 28 patients, and all patients showed persistent limitation of diffusion (100.0%). The most affected areas of white matter lesions were around the lateral ventricles, followed by the frontal-parietal occipital lobe, and corpus callosum. The incidence of abnormal signal of central semiovale in youth group was statistically higher than that in middle and old aged group ( P<0.05). (4) A total of 36 CSF1R gene mutations or possibly pathogenic mutations were identified in 50 patients, 21 of which were novel mutations reported for the first time. Of the 47 patients whose mutations were described in detail, 8 (17.0%) and 5 (10.6%) probands carried c. 2381T>C/p. I794T and c.2345G>A/p.R782H, respectively. Conclusions:The clinical manifestations of HDLS are diverse and lack of specificity. The most common first symptom and sign are progressive cognitive impairment and progressive dementia; however, the symptom spectrum and MRI imaging changes of white matter damage are related to age. MRI follow-up and targeted gene testing help reduce misdiagnosis and missed diagnosis of HDLS.

Objective:To analyze the clinical characteristics of hereditary diffuse leukoencephalopathy with spheroids (HDLS).Methods:A retrospective analysis was performed. The clinical data of 2 patients with genetically conformed HDLS, admitted to our hospital in August 2020 and October 2021, were collected; and a literature search was conducted in domestic and foreign databases from January 2012 to January 2022 (enrolling a total of 48 patients with HDLS caused by colony-stimulating factor-1 receptor [ CSF1R] gene mutation). The population, clinical, imaging and gene mutation characteristics of these patients were summarized and analyzed. Results:(1) In these 50 patients, 20 were male and 30 were female, with onset age of (40.72±11.27) years; 40 patients (80.0%) had been misdiagnosed. (2) The most common first symptom and sign were progressive cognitive impairment (74.0%) and progressive dementia (80.0%). The patients in the middle and old aged group (≥40 years old, n=31) had significantly higher incidences of progressive cognitive impairment and Parkinson's-like symptom, and statistically lower incidence of muscle weakness as compared with those in the youth group (<40 years old, n=19, P<0.05). (3) The highest incidence of abnormal imaging findings was white matter lesions (100.0%), followed by cerebral atrophy (84.0%), ventricular enlargement (84.0%) and corpus callosum atrophy (60.0%). DWI examination was completed in 28 patients, and all patients showed persistent limitation of diffusion (100.0%). The most affected areas of white matter lesions were around the lateral ventricles, followed by the frontal-parietal occipital lobe, and corpus callosum. The incidence of abnormal signal of central semiovale in youth group was statistically higher than that in middle and old aged group ( P<0.05). (4) A total of 36 CSF1R gene mutations or possibly pathogenic mutations were identified in 50 patients, 21 of which were novel mutations reported for the first time. Of the 47 patients whose mutations were described in detail, 8 (17.0%) and 5 (10.6%) probands carried c. 2381T>C/p. I794T and c.2345G>A/p.R782H, respectively. Conclusions:The clinical manifestations of HDLS are diverse and lack of specificity. The most common first symptom and sign are progressive cognitive impairment and progressive dementia; however, the symptom spectrum and MRI imaging changes of white matter damage are related to age. MRI follow-up and targeted gene testing help reduce misdiagnosis and missed diagnosis of HDLS.

Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.

Objective To study the seropositive ratio of the antibody to aquporin 4 (AQP4-IgG) and myelin oligodendrocytes glycoprotein antibody(MOG-IgG)in patients with autoimmune-associated central nervous system (CNS) diseases. Meanwhile, epidemiology and clinical manifestation and diagnosis,laboratory examination and magnetic resonance imaging(MRI)of AQP4-IgG seropositive and MOG-IgG seropositive patients are described. Methods 2068 patients serum samples were collected and enrolled in the multi-center research. The methodology of cell-mediated immunofluorescence staining was used to detect serum AQP4-IgG and MOG-IgG. Clinic medical records were collected and characteristics of epidemiology and manifestation were compared. Results 681 patients were AQP4-IgG seropositive and 110 patients were MOG-IgG seropositive. The female/male ratio and age of onset of patients with AQP4-IgG seropositive(616 female and 65 male,female:male=9.50:1.00;Age of onset=41.7±14.9)were significantly higher than that of patients with MOG-IgG (57 female and 53 male, female:male=1.08:1.00, P<0.0001; Age of onset=27.0 ±17.7, P<0.0001). The optic neuritis was significantly higher in patients with AQP4-IgG seropositive and patients with MOG-IgG seropositive (38.4% vs.53.5%, P<0.05).Among patients with AQP4-IgG seropositive, 42.14% conformed the diagnostic criteria of neuromyelitis optica (NMO),which was higher than that of patients with MOG-IgG seropositive (13.64%, P<0.0001). Laboratory examination showed that there was no significant difference in cerebrospinal fluid protein levels between patients with AQP4-IgG seropositive and those with MOG-IgG seropositive.MRI imaging suggested that AQP4-IgG positive patients were more common in cervical thoracic spinal cord lesions, while MOG-IgG positive patients were more involved in thoracolumbar spinal cord. The study also found that these two groups of patients could be comorbid with other autoimmune antibodies. Conclusions This multi-center research has revealed that patients with AQP4-IgG seropositive and those with MOG-IgG seropositive display differences in epidemiology,clinic manifestations and diagnosis,laboratory examination and MRI imaging. AQP4-IgG and MOG IgG auto-antibody detection are necessary for clinic diagnosis and differential diagnosis.

Objective To investigate the effects of low-fat diet or statin intervention at early age on brain amyloid β-protein (Aβ) pathology and behaviors of middle-aged Tg2576 mice.Methods Thirty-five two-month-old Tg2576 mice were randomly divided into following 5 groups:a juvenile statin group,a juvenile low-fat diet group,a young statin group,a young low-fat group,and a blank control group (n=7);mice in the low-fat diet groups were given standard low-fat feed,and mice in the statin group were given atorvastatin at 17 mg/(kg· d) into the normal diet.The initiation times of intervention were,respectively,set to be 2-month-old in juvenile groups and 6-month-old in young groups;meanwhile,mice in the blank-control group were fed with normal diet without statin.All mice were raised to be 10-month-old and tested by Morris water maze for evaluating cognitive behaviors two weeks before execution.After peripheral blood and brains being taken,a monoclonal anti-Aβ42 antibody was employed to immunostain mice brain paraffin tissue sections for assaying tissue Aβ plaque immunoreactivity (TAPIR),and the levels of Aβ40,Aβ42,β-secretase,and γ-secretase in homogenates were detected by enzyme-linked immunosorbent assays (ELISA).Results As compared with those in the blank-control group,the average escape latencies,times of passing through hidden platforms,percentage of strong TAPIR,Aβ42 and γ-secretase level in all intervention groups showed no statistical differences (P＞0.05).As compared with those in the blank control group,Aβ42 in homogenates of young intervention groups and β-secretase level in the young statin group were significantly higher (P＜0.05).Conclusion Interventions initiated from juvenile or young,and low-fat diet intervention or statin intervention can neither improve the mice's Morris water maze testing results,nor reduce Aβs burdens in brain homogenates and Aβ40 immunopathologies in brain tissues of middle-aged mice;over early initiation of low-fat diet intervention or statin intervention might accelerate or worsen Alzheimer's disease progress.

ObjectiveTo observe the therapeutic effect and recurrence of treating Benign Paroxysmal Positional Vertigo(BPPV) by the treatment that combined Canalith Repositioning Maneuver(CRM) with Chinese and Western medicine.MethodsCollecting 40 cases suffered from BPPV,and randomized controlled method was used.Control group:20 cases( using Western and Chinese medicine),treatment group:20cases( using Western and Chinese medicine wrbined with CRM),judge the effect after 7days and telephone followed up 3 months,inquiring about recurrence situation.ResultsCure rate of treatment group was 90％,total effective rate was 100％ which was higher than the control group which was 50％,the total effective rate was 95％ (P ＜0.001 ) ;20 cases in treatment group followed up by telephone didn't recur.1 case in control group recurred,but got better after the treatment of CRM.ConclusionCRM which was effective,safe,simple and convenient to treat BPPV could be used as the preferred treatment for BPPV,if combined with Chinese and western medicine,it could significantly alleviate the symptoms and reduce the relapse.

Objective To explore the effect and safety of urinary kallidinogenase combined with edaravone in treating moderate and severe acute cerebral infarction.Methods 84 patients who had acute cerebral infarction were randomly divided into 2 groups,control group was given edaravone,treatment group was added urinary kallidinogenase based on control group,other conventional medical treatments were same.Results After 14 days treatment,the change of National Institute of Health stroke scale(NIHSS)and Activities of Daily Living(ADL)before and after the 14 days were compared.After the treatment,NIHSS of urinary kallidinogenase group and control group both improved (P ＜ 0.01),urinary kallidinogenase group improved more significantly,and had significant difference compared with control group(P ＜ 0.01).ADL level of the two groups both went up(P ＜ 0.01),urinary kallidinogenase group went up more significantly,and had the significant difference compared with controlled group(P ＜ 0.01).Conclusion Uri nary kallidinogenase could selectively expand ischemic vessel,open collateral circulation,and promote the formation of new vessels,if combined with edaravone treating moderate and severe acute cerebral infarction,it could significantly improve the neurological deficit,reduce disability rate and increase the safety.

Objective To study the effect of Tongxinluo on Cerebral hemodynamics in Carotid attery alerosclerotio and Cerebral blood Shorty Suppeied patients.Methods eighty-three of Carotid artery in atheroseterotie and cerebral blood shorty supplied patients were lrealed with Tongxinluo Capsule four tablet,potid,The course of treatment was 8weeks. Changes of hemodynamics in patients with brain ischemic were examined before and after treatment,and compared with fifty old health paplpe.Results Average blood flow velocity increased significanily(P