Objective To investigate the clinical features of facial myokymia (FM),assess the therapeutic effect of botulinum toxin A for this condition,and offer clinical guidance for the treatment of this rare disease. Methods A retrospective analysis was performed on the clinical data of 17 patients who visited the Dyskinesia Outpatient Clinic of the Department of Neurology in Peking Union Medical College Hospital and were diagnosed with FM or facial peristalsis from March 2018 to March 2023,and the patients were followed up for the therapeutic effect of botulinum toxin A. Results Among the 17 patients with FM,12 were female and 5 were male;the mean age of onset was (31.4±9.3) years,and the duration of disease ranged from 1.5 months to 22 years. Unilateral onset was seen in all the cases;the onset in 3 cases was associated with trauma or extreme fatigue,while the cause was unclear in the remaining cases. The initial symptoms affected the lower eyelid,temporal muscle,and masseter muscle;symptoms progressed to the muscles on the same side of the face in 6 cases and involved the lower eyelid on the opposite side in 1 case;6 cases had concomitant pain;9 cases experienced functional impairment;12 cases had worsening symptoms due to coldness,tension,excitement,or strong light stimulation;1 case had head MRI results which revealed abnormal signals in the right insula,possibly due to abnormal congenital development (gray matter heterotopia);1 case had MRI results which revealed multiple intracranial ischemic foci. Seven cases showed improved symptoms after the use of carbamazepine,oxcarbazepine,phenytoin sodium,baclofen,and nicergoline during the course of disease;4 cases showed no response;6 cases did not receive any medication. Ten cases received treatment with BTX-A injection,with a mean onset of action of (5.0±2.7) days,a mean time to best effect of (8.5±4.9) days,a mean improvement rate of (78.5±15.8)%,and a mean maintenance time of (7.1±2.9) months. Following BTX-A injection,all patients experienced alleviation of anxiety and pain. Five cases who received regular BTX-A injections had a mean maintenance time of (6.3±3.4) months and a mean improvement rate of (85±13.7)%. Conclusion FM is a rare disease,lacking effective treatment consensus. Botulinum toxin A injection is a safe and effective treatment and is considered a first-line treatment for various types of focal dystonia. Based on limited case reports in the literature and our clinical research experience,botulinum toxin A injection can be recommended for the symptomatic treatment of FM.

Dystonia is a movement disorder characterized by continuous or intermittent muscle contraction leading to involuntary abnormal movements or postures. The etiology of dystonia can be hereditary,acquired,or idiopathic. Hereditary dystonia has been listed in the first catalog of 121 rare diseases in China. The genetic causes of dystonia are complex,with numerous new genes related to dystonia discovered in recent years,which include HPCA,KCTD17,COL6A3,KMT2B,VPS16,VPS41,VPS11,AOPEP,EIF2AK2,ADCY5,GNAO1,GNB1,TBCD,CACNA1B,DNAJC12,SLC18A2,SQSTM1,IRF2BPL,and YY1. The relationship between clinical phenotypes and genotypes in dystonia is complex and insufficiently understood. This article reviews the genetics of dystonia,aiming to improve clinicians ability to diagnose and treat this disease.

Low-intensity transcranial ultrasound stimulation(LITUS),a high-resolution and safe neuromodulation technique,holds great promise as a treatment option for alleviating both motor and non-motor symptoms in Parkinson disease. This article presents a comprehensive overview of the application of LITUS in the rehabilitation of Parkinson disease from the aspects of the parameters,classification,efficacy,and mechanism of LITUS.

Rapid eye movement sleep behavior disorder(RBD) is one of the most typical concomitant symptoms of Parkinson disease(PD). Studies have shown that RBD is related to the deterioration of motor and non-motor symptoms,which seriously affects the prognosis and quality of life of patients with PD. However,the pathogenesis of PD with RBD(PD-RBD+) remains unclear. With the development of neuroimaging techniques in recent years,more and more studies have focused on the neuroimaging changes of PD-RBD+ to identify specific imaging markers for the diagnosis and treatment of the disease. This article reviews the research on neuroimaging related to PD-RBD+.

Chorea-acanthocytosis(ChAc) is a common type of neuroacanthocytosis,and the VPS13A gene which settles on autosomal 9q21 is the only pathogenic gene. ChAc has the typical features of neurological degeneration and peripheral blood acanthocytosis,as well as complex and diverse clinical manifestations and variable results of auxiliary examinations. At present,there are still no unified diagnosis and treatment standards for this disease in China and globally. By summarizing related articles,this article elaborates on ChAc from the aspects of etiology and pathogenesis,clinical manifestations,diagnostic criteria,treatment,disease management,and prognosis.

Objective To investigate the association between neurotransmitters and dyskinesia in patients with vascular Parkinson syndrome(VPS) and the predictive value of neurotransmitters. Methods A retrospective analysis was performed for 60 patients with VPS who were hospitalized in Department of Neurology in our hospital from December 2020 to December 2022,and they were enrolled as observation group;60 patients with Parkinson disease who were hospitalized in our hospital during the same period of time were enrolled as control group;60 patients who underwent physical examination in the Physical Examination Center of our hospital during the same period of time were enrolled as healthy group. The simplified Fugl-Meyer Assessment(FMA) score was used to evaluate the motor function of patients. The above three groups were compared in terms of serum neurotransmitters[5-hydroxytryptamine(5-HT),dopamine(DA)] and FMA score;the VPS patients with different Hoehn-Yahr stages were compared in terms of serum neurotransmitters and FMA score;the VPS patients with different severities of dyskinesia were compared in terms of serum neurotransmitters. A Pearson correlation analysis was used to investigate the correlation of serum 5-HT and DA with FMA score;the receiver operating characteristic(ROC) curve was plotted and the area under the ROC curve(AUC) was calculated to analyze the efficacy of 5-HT and DA in predicting dyskinesia. Results The observation group had significantly lower serum 5-HT and DA and FMA score than the control group and the healthy group(P<0.05),and the control group had significantly lower serum 5-HT and DA and FMA score than the healthy group(P<0.05). The stage Ⅳ group had significantly lower serum 5-HT and DA and FMA score than the stage Ⅲ group,and the stage Ⅲ group had significantly lower serum 5-HT and DA and FMA score than the stage Ⅱ group(P<0.05). The severe dyskinesia group had significantly lower serum 5-HT and DA than the obvious dyskinesia group(P<0.05),the obvious dyskinesia group had significantly lower serum 5-HT and DA than the moderate dyskinesia group(P<0.05),and the moderate dyskinesia group had significantly lower serum 5-HT and DA than the mild dyskinesia group(P<0.05). Serum 5-HT and DA were positively correlated with FMA score(r=0.411 and 0.403,P<0.05). The combined measurement of 5-HT and DA had an AUC of 0.803(95% CI 0.713-0.938) in predicting dyskinesia,with higher sensitivity and specificity than the measurement of each index alone(sensitivity:92.72% vs 75.27%/72.87%,P<0.05;specificity:90.83% vs. 72.64%/70.09%,P<0.05). Conclusion Dyskinesia in VPS patients is closely associated with the abnormally low expression of serum 5-HT and DA,both of which are involved in dyskinesia. The combined measurement of serum 5-HT and DA can improve the predictive efficacy of dyskinesia and thus has a certain reference value.

Objective To investigate the clinical and electrophysiological features of seizures presenting as bilateral synchronized dystonia. Methods A retrospective analysis was performed for patients who underwent surgical evaluation in Guangdong 999 Brain Hospital and Shenzhen Second People's Hospital from January 1,2016 to September 1,2022,and 16 patients with seizures presenting as bilateral synchronized dystonia were enrolled for analysis,among whom there were 11 male patients and 5 female patients,with a mean age of 26±8.97 years and a mean age of onset of 12.6±5.9 years. All patients had detailed records of medical history,scalp VEEG(2-3 times of habitual seizures),head MRI,and heat PET examination. All patients underwent stereotactic electroencephalography(SEEG) implantation(bilateral implantation in 8 patients and ipsilateral implantation in 8 patients),with 2-3 times of habitual seizures observed in all patients. Results Seizures presenting as bilateral synchronized dystonia were often observed in temporal epilepsy,insular epilepsy,or temporal plus epilepsy,and based on SEEG monitoring results,there were 9 patients with temporal-insular plus epilepsy,2 patients with insular epilepsy,and 5 patients with medial temporal lobe epilepsy(MTLE). Bilateral synchronized dystonia was the first or early manifestation of temporal-insular plus epilepsy and insular epilepsy,and in medial temporal lobe epilepsy,bilateral synchronized dystonia was the secondary symptom of automatism or complex motor. SEEG showed that both the medial temporal lobe and the insular lobe were involved in seizures presenting as bilateral synchronized dystonia. Conclusion Seizures presenting as bilateral synchronized dystonia is often observed in temporal-insular plus epilepsy,insular epilepsy,and MTLE,and the involvement of the medial temporal lobe and the insular lobe is required for bilateral synchronized dystonia.

Objective To investigate the clinical features,electrophysiological results,treatment regimen,and prognosis of anti-GAD65 antibody-associated stiff-person syndrome. Methods A retrospective analysis was performed for four patients with anti-GAD65 antibody-associated stiff-person syndrome who attended Department of Neurology,The First Affiliated Hospital of Air Force Medical University,from December 2019 to March 2023. Clinical phenotype,electrophysiological characteristics,treatment methods and prognosis were analyzed. Results All four patients with anti-GAD65 antibody-associated stiff-person syndrome were female,with an age of 49-74 years,and delayed diagnosis(1-7 years) was observed in all four patients. Among the four patients,one had epilepsy,one had cerebellar ataxia,one had type 1 diabetes,and three had Hashimoto's thyroiditis. In the acute stage of the disease,one patient received high-dose hormone shock therapy,one received human immunoglobulin therapy,and two received low-dose hormone. As for long-term immunotherapy,three patients were given mycophenolate mofetil,and one patient was given regular infusion of human immunoglobulin. All four patients showed response to clonazepam and immunoregulatory therapy. Conclusion Anti-GAD65 antibody-associated stiff-person syndrome is often observed in middle-aged and elderly women,with delayed diagnosis in most cases. Patients may also have other clinical phenotypes and autoimmune diseases,and typical discharge of motor unit potential often exits in axial muscles. Clonazepam and immunotherapy are effective treatment methods for this disease.

Tyrosine hydroxylase deficiency induced dopa-responsive dystonia is a treatable neurometabolic disease,which is relatively rare in clinic. In this paper,we present a case of dopa-responsive dystonia caused by tyrosine hydroxylase deficiency and reviewed relevant literature to investigate the pathogenesis,clinical manifestations,diagnosis and treatment of dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Finally,we concluded that peripheral blood prolactin may be a biomarker of tyrosine hydroxylase deficiency,Genetic testing in patients with clinically suspected tyrosine hydroxylase deficiency may be the only way to confirm the diagnosis,and early identification of the diagnosis and levodopa treatment may significantly improve the prognosis.

Objective To investigate the correlation of serum interleukin 33(IL-33) level and regional cerebral blood flow(rCBF) in white matter lesions with the severity of white matter ischemic lesions(WMILs) in patients with WMILs. Methods A total of 104 patients with WMILs admitted to our hospital from November 2021 to April 2022 were divided into mild group(n=36),moderate group(n=42),and severe group(n=26) according to the Fazekas scale scores. Age,histories of hypertension and diabetes,and data of total cholesterol,triglyceride,high-density lipoprotein cholesterol,low-density lipoprotein cholesterol,homocysteine,glycosylated hemoglobin,serum creatinine,and urea were collected. The serum IL-33 level was measured. The values of rCBF in the centrum semiovale and periventricular area were measured by arterial spin labeling. Multivariate Logistic regression was used to analyze the correlation of serum IL-33 level and rCBF values in the centrum semiovale and periventricular area with the severity of WMILs. Results The age,hypertension,creatinine,and homocysteine in the moderate and severe groups were significantly higher than those in the mild group(P<0.05),and the IL-33 level and rCBF values in the severe group were significantly lower than those in the mild and moderate groups(P<0.01). After adjusting for hypertension,age,and other factors,Logistic regression analysis showed that IL-33 level and rCBF values in the periventricular area and centrum semiovale were protective factors for the increased severity of WMILs[odds ratio(OR)=0.818,95% confidence interval(CI) 0.715-0.935,P=0.003;OR=0.659,95%CI 0.506-0.859,P=0.002;OR=0.817,95%CI 0.692-0.966,P=0.018)]. Spearman rank correlation analysis showed that serum IL-33 level and rCBF values in the periventricular area and centrum semiovale were negatively correlated with the severity of WMILs(r=-0.575,P<0.01;r=-0.607,P<0.01;r=-0.644,P<0.01). Conclusion The IL-33 level and rCBF values in the periventricular area and centrum semiovale may be related to the severity of WMILs.