Research progress of peripherally-induced movement disorder / 中华神经科杂志

Peripherally-induced movement disorders (PIMD) are a group of involuntary movements that emerge after an injury to a body part outside the central nervous system. The phenomenology of PIMD encompasses both hyperkinesia and hypokinesia involving multiple parts of the body. The diagnosis of this disease mainly relies on the temporal and spatial relationship between peripheral injuries and movement disorders. The etiology, pathogenesis and treatment of PIMD have been a matter of debate. This article will review the clinical features, classification, diagnosis, treatment and possible pathogenesis of PIMD, and discuss the limitations and controversies of PIMD-related researches, aiming to advance the understanding of PIMD and avoid clinical misdiagnosis.

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.

Long-term outcome of deep brain stimulation in chorea-acanthocytosis / 中华神经科杂志

Objective:To summarize genotype-phenotype features and explore the long-term outcome of bilateral globus pallidus interna deep brain stimulation (DBS) in chorea-acanthocytosis (ChAc) patients.Methods:Seven patients who diagnosed with ChAc were included in this study from April 2016 to April 2018 at Peking Union Medical College Hospital. Whole-exome sequencing was used for gene analysis of the patients, and the genotype-phenotype features of these patients were recorded. All patients underwent the DBS surgery, and long term follow-up was conducted before surgery, 3 months, 6 months, 1 year, 3 years, and 5 years after surgery. Patients were scored using the Unified Huntington Disease Rating Scale (UHDRS) to evaluate the long-term efficacy of DBS surgery.Results:The main clinical manifestations in all 7 patients were oro-faciol-ingual dyskinesia, limb chorea, dystonia, and dysarthria. Genetic testing found that all patients had VPS13A gene pathogenic variation, but the type of variation was different. The UHDRS motor score before bilateral pallidal DBS surgery was 37.00±16.68, which significantly improved to 19.67±5.99 at 1 year post-surgery, with average improvement of 46.8% ( t=5.20, P=0.003), to 23.86±8.99 at 3 years post-surgery, with average improvement of 35.5% ( t=3.08, P=0.022), and to 29.00±14.97 at 5 years post-surgery, with average improvement of 21.6% ( t=1.41, P=0.217). The symptoms of patients were most significantly improved in limb chorea and oro-facio-lingual dyskinesia. However, at the 5-year follow-up, severe dystonia and gait difficulties reoccurred in 3/7 and 4/7 of the patients, respectively. The patient′s dysarthria had not been effectively improved. Conclusions:The clinical manifestations of patients with ChAc are relatively consistent, but there is significant genetic heterogeneity. Bilateral pallidal DBS therapy is effective for patients with ChAc, but the long-term efficacy decreases with disease progression.

PLA2G6-related parkinsonism:clinical and genetic characteristics of 6 cases and literature review / 中华神经科杂志

Objective:To elucidate the clinical and genetic characteristics of PLA2G6-related parkinsonism. Methods:The clinical, imaging and genetic data of 6 patients with PLA2G6-related parkinsonism admitted to Peking Union Medical College Hospital from January 2015 to December 2022 were retrospectively collected and analyzed. The prognosis was followed up through phone call. Results:There were 3 male and 3 female patients, and the age of disease onset was (24.3±5.4) years. Phenotypically, 5 of them had dystonia-parkinsonism (DP) with obvious atrophy of cerebellum and 1 presented as early-onset Parkinson′s disease (EOPD) with no brain structural abnormality. Only 1 patient presented with abnormal brain iron deposition. All of the patients were partially responsive to levodopa. Three cases underwent levodopa challenge test with the objective levodopa responsiveness varied from 10.3% and 10.6% in 2 DP patients, to 77.0% in 1 EOPD patient. Levodopa-induced dyskinesias were present in 4 of them, and all appeared within the first year since the initiation of dopaminergic treatment. Two patients underwent bilateral deep brain stimulation (DBS) of subthalamic nucleus and globus pallidus internus respectively, albeit revealed poor outcome. Genetically, 8 PLA2G6 variants were identified. Two of them were found to be novel (c.1973A>G and exon2 heterozygous deletion), and the most frequent variant was the c.991G>T mutation which was detected in 4 patients. Conclusions:The phenotype of PLA2G6-related parkinsonism is complex. Cerebellar atrophy is a frequent magnetic resonance imaging feature. Levodopa responsiveness tends to depend on the clinical phenotype, and EOPD is better than DP. DBS might not be promising in DP patients with obvious cerebral atrophy. The c.991G>T mutation is the most frequent mutation, suggesting a common founder effect.

Clinical features of facial myokymia and its treatment with botulinum toxin A / 中风与神经疾病杂志

@#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.

Analysis of prognostic factors in 113 patients with tardive dyskinesia / 中华神经科杂志

Objective:To explore the related factors affecting the prognosis of patients with tardive dyskinesia, in order to find the risk factors of poor prognosis.Methods:A retrospective cohort study was implemented to collect the data of 113 patients with tardive dyskinesia from the movement disorders clinic of the Department of Neurology, Peking Union Medical College Hospital by telephone follow-up. The main variables studied included gender, age, educational level, living environment, job, cigarette smoking, alcohol drinking, hypertension, diabetes, medication type, interval from taking medicine to dyskinesia, course of dyskinesia and intervention measures. The data were analyzed by the statistical software SPSS 25.0. The quantitative data analysis was done by normality test and descriptive statistics, and the qualitative data analysis was done by χ 2 test or Fisher exact probability test. The variables with P≤0.01 in univariate analysis were included in multivariate Logistic regression analysis. Results:Among the 113 patients, 16 patients (14.16%) were cured, 27 patients (23.89%) had obvious improvement, 25 patients (22.12%) had slight improvement, 26 patients (23.01%) had no obvious change, 15 patients (13.27%) had slight deterioration, and 4 patients (3.54%) had obvious deterioration. The good prognosis rate was 60.18%, and the poor prognosis rate was 39.82%. In single factor analysis, the related factors for poor prognosis included age>52 years (χ 2=15.07, P<0.001), educational level in secondary schools and below (χ 2=8.58, P=0.003), physical labor (χ 2=4.66, P=0.031), hypertension (χ 2 = 16.38, P<0.001), diabetes mellitus (χ 2=6.06, P=0.011), dyskinesia caused by first-generation antipsychotics, calcium channel blocker or flupentixol/melitracen tablets ( P<0.001), and the duration of dyskinesia more than 2 years (χ 2 =7.05, P=0.008). Multivariate Logistic regression analysis showed that the independent risk factors for poor prognosis of tardive dyskinesia included hypertension ( OR=3.60, 95% CI 1.17-11.05, P=0.025) and dyskinesia caused by first-generation antipsychotics, calcium channel blocker or flupentixol/melitracen tablets ( OR=3.14, 95% CI 1.21-8.16, P=0.019). Conclusions:Most patients with tardive dyskinesia have a good prognosis. Hypertension and dyskinesia caused by first-generation antipsychotics, calcium channel blocker or flupentixol/melitracen tablets are independent risk factors for poor prognosis.

The clinical features and etiology analysis of superficial siderosis of the central nervous system / 中华神经科杂志

Objective:To summarize the clinical manifestation and imaging of superficial siderosis of the central nervous system and explore the potential etiology.Methods:The clinical and imaging data of 7 patients diagnosed as superficial siderosis of the central nervous system in Peking Union Medical College Hospital from May 2013 to November 2019 were retrospectively reviewed. The etiology and follow-up prognosis through phone call were analyzed.Results:There were 7 patients included (3 male and 4 female) with an average age of 53 years (41-58 years). The cardinal manifestations were sensorineural deafness (all 7 cases), cerebellar ataxia (all 7 cases) and pyramidal signs (all 7 cases). Dizziness (6 cases), bladder disturbance (5 cases), headache (3 cases), double vision (2 cases) and congnitive impairment (1 case) could also happen. Magnetic resonance imaging showed symmetrical well-defined curvilinear homogeneous low signal on T 2 or blood-sensitive sequences (T 2* gradient echo or susceptibility-weighted imaging) over the superficial surface of cerebellar, brain stem, and spinal cord or cranio-cervical junction. All the 7 patients showed cerebellar atrophy especially the upper vermis. The potential causes included trauma history in 3 cases, intraspinal fluid-filled collection which indicated dural defect or duropathologies in 3 cases, intraspinal mass in 1 case and vertebral and disc degeneration in all 7 patients. The 5 patients who successsfully got follow-up showed exacerbation of variable degree. Conclusions:Classical superficial siderosis of the central nervous system is a rare disease with cardinal manifestation of progressive ataxia, sensorineural deafness and pyramidal signs. T 2WI of magnetic resonance imaging showing low signal over the superficial surface of cerebellar, brain stem, and spinal cord could indicate the diagnosis, and blood-sensitive sequences such as T 2* gradient echo or susceptibility-weighted imaging were more sensitive. Duropathologies or dural defect may be the most probable causes of the disease and should be examined and treated carefully.

The characteristics of gastrointestinal symptoms in patients of Parkinson′s disease / 中华神经科杂志

Objective:To investigate the characteristics of gastrointestinal (GI) symptom spectrum in patients with Parkinson′s disease (PD), and to help the early identification of gastrointestinal symptoms and management of PD.Methods:One hundred PD patients in the Department of Neurology, Peking Union Medical College Hospital from January 2017 to August 2017 were enrolled in this study. They were assessed by face-to-face GI dysfunction questionnaire, including eight common symptoms involved in oropharynx, upper and lower digestive tract. The Spearman correlation analysis was performed.Results:The age of PD patients was (61.9±10.5) years, the ratio of male to female was 53∶47 and the disease duration was 4.0 (2.0, 6.0) years. There were 42 cases of Hoehn-Yahr (H-Y) stage 1, 30 cases of H-Y stage 2 and 28 cases of H-Y stage 3 and above (24 cases of H-Y stage 3, three cases of H-Y stage 4 and one case of H-Y stage 5). Totally 58% (58/100) of PD patients had one or more GI symptoms. Constipation (42%, 42/100), dysdefecation (38%, 38/100) and salivation (28%, 28/100) were the top three of most common GI symptoms. Lower GI symptoms were the most common (57%, 57/100), followed by oropharyngeal symptoms (33%, 33/100), and upper GI symptoms (27%, 27/100). GI symptoms could appear in H-Y stage 1 patients, 26.1% (11/42) of which had 1-2 kinds of GI symptoms and over 20% of which had more than three kinds of GI symptoms. A total of 39.3% (11/28) of PD patients with H-Y stage ≥3 had more than three kinds of GI symptoms. The Gastroparesis Cardinal Symptom Index (GCSI) score in patients with upper GI symptoms was 3.0 (2.0,6.5). The constipation symptom score in patients with constipation and dysdefecation was 19.0 (12.0,27.3). As for the clinical type of constipation, 66.7% (38/57) of them were mixed, 21.0% (12/57) were slow transit and 12.3% (7/57) were dysdefecation. In 38.6% (22/57) of the constipated patients, constipation symptoms occurred earlier than PD motor symptoms. Correlation analysis showed that H-Y stage was positively correlated with the course of PD, the number of GI symptoms, salivation, constipation, dysdefecation and constipation symptom scores.Conclusions:Constipation, dysdefecation and salivation were the most common GI symptoms in PD patients. PD patients had at least one GI symptom in the early stage (H-Y stage 1). Lower GI symptoms were more common than oropharyngeal symptoms and upper GI symptoms. With the development of PD, the number of GI symptoms, salivation, constipation and dysdefecation were aggravated, which were important for early symptomatic identification and disease management.

Clinical strategy for the diagnosis and treatment of dystonia / 中华神经科杂志

Dystonia is a highly heterogeneous disorder both in clinical and genetical manifestation. It is sometimes associated with poor outcomes in clinical practice. Understanding of the definition, classification, mechanism of dystonia is helpful for optimizing management and improving the implementation. Genetic testing for dystonia is important as an accurate molecular diagnosis in certain genes which can influence therapeutic decisions. Referring to the current situation of clinical practice and expert views in China, this article shares the principles of clinical diagnosis and treatment and the application of gene testing, hoping to provide reference to the diagnosis and treatment decisions of dystonia for the ordinary neurologists in the process of medical practice.

Safety and efficacy of botulinum toxin type A made in China for treatment of post-stroke upper limb spasticity: a randomized double-blind controlled trial / 中华神经科杂志

Objective To evaluate the safety and efficacy of botulinum toxin type A for injection in the treatment of post-stroke upper limb spasticity (dosage was 200 U,or 240 U if combined with thumb spasticity).Methods The study was a multi-center,stratified block randomized,double-blind,placebocontrolled trial.All the qualificd subjects were from 15 clinical centers from September 2014 to February 2016.They were randomized (2∶1) to injections of botulinum toxin type A made in China (200-240 U;n =118) or placebo (n =60) in pivotal phase after informed consent signed.The study was divided into two stages.The pivotal trial phase included a one-week screening,12-week double-blind treatment,followed by an expanded phase which included six-week open-label treatment.The tone of the wrist,finger,thumb flexors was assessed at baseline and at weeks 0,1,4,6,8,12,16 and 18 using Modified Ashworth Scale (MAS),disability in activities of daily living was rated using the Disability Assessment Scale and impaction on pain,muscle tone and deformity was assessed using the Global Assessment Scale.The primary endpoint was the score difference between botulinum toxin type A and placebo groups in the tone of the wrist flexor using MAS at six weeks compared to baseline.Results Muscle tone MAS score in the wrist flexor of botulinum toxin type A and placebo groups at six weeks changed-1.00 (-2.00,-1.00) and 0.00 (-0.50,0.00) respectively from baseline.Botulinum toxin type A was significantly superior to placebo for the primary endpoint (Z =6.618,P ＜ 0.01).The safety measurement showed 10 subjects who received botulinum toxin type A had 13 adverse reactions,with an incidence of 8.47％ (10/118),and three subjects who received placebo had three adverse reactions,with an incidence of 5.00％ (3/60) during the pivotal trial phase.All adverse reactions were mild to moderate,none serious.There was no significant difference in adverse reactions incidence between the botulinum toxin type A and the placebo groups.During the expanded phase three subjects had four adverse reactions and the incidence was 1.95％.All adverse reactions were mild,none serious.Conclusion Botulinum toxin type A was found to be safe and efficacious for the treatment of post-stroke upper limb spasticity.Clinical Trial Registration:China Drug Trials,CTR20131191

Botulinum toxin:novel strategy focusing on the effector / 中华神经科杂志

As a local and effective denervation method,botulinum toxin has been applied in more and more fields.Practitioners who use botulinum toxin should consider the general situation of patients based on the view of effectors,weigh the pros and cons and set reasonable goals before injection,referring to the Chinese expert consensus.

Genetic advances in dystonia based on classification of clinical characteristics / 中华神经科杂志

In 2013,consensus on the phenomenology and classification of dystonia was updated and dystonia was classified into isolated dystonia and combined dystonia according to whether combined with other movement disorders.Up to now,the genes for isolated dystonia include TOR1A,THAP1,ANO3,GNAL,TUBB4A,and newly reported HPCA and COL6A3.As for the combined dystonia,genes for dystonia plus myoclonus include SGCE,CACNA1B,KCTD17,guanosine triphosphate cyclohydrolase 1 and tyrosine hydroxylase;genes for dystonia plus parkinsonism include TAF 1,GCH 1,TH,ATP1A3,PRKRA.Based on the clinical features of dystonia,a comprehensive review of related genes is helpful for its accurate diagnosis.

Classification and characteristics of 593 patients with headache / 中华神经科杂志

Objective To assess the classification and characteristics of headaches using the International Classification of Headache Disorders,3rd edition (beta version) criteria in a headache outpatient clinic.Methods In this prospective cross-sectional study,all consecutive patients presenting with headache to a headache outpatient clinic of Peking Union Medical College Hospital between April 1 st,2014 and February 28th,2015 were included.Results The average age of 593 patients was (42.I ± 15.6) years with female-male ratio 1.89∶ 1.Primary headaches were found in 483 (81.5％) patients,of which migraine and tension-type headache were found in 264 (44.5％) patients and 168 (28.3％) patients respectively.Chronic daily headache and new headache were found in 158 (26.6％) patients and 130 (21.9％) patients,while cough headache and thunderclap headache were found in 9 (1.5 ％) patients and 5 (0.8％) patients respectively.Patients with migraine were more likely complicated with medicationoveruse headache than patients with tension-type headache (x2 =4.21,P =0.032).Patients with tensiontype headache were more likely complicated with chronic daily headache than patients with migraine (x2 =18.92,P =0.000).Conclusions In this headache outpatient clinic,most patients were primary headaches.Chronic daily headache and new headache were common,while cough headache and thunderclap headache were uncommon.These headache syndromes should be paid attention to identify the possible underlying malignant etiologies.

Clinical features and treatment status of hemifacial spasm in China / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Hemifacial spasm (HFS) is a facial nerve disorder characterized by episodic involuntary ipsilateral facial muscle contraction. Information on Chinese patients with HFS has not been well-characterized. This study aimed to evaluate the clinical feature and the treatment status of HFS across China.</p><p><b>METHODS</b>A cross-sectional study including 1003 primary HFS patients had been carried out in 15 movement disorder clinics in China in 2012. The investigated information was acquired from questionnaires and medical records including demographic data, site of onset, aggravating and relieving factors, treatments prior to the investigation, etc.</p><p><b>RESULTS</b>In this study, the ratio of male to female was 1.0:1.8, the mean age at onset was (46.6 ± 11.5) years. About 1.0% patients were bilaterally affected. The most often site of initial onset was the orbicularis oculi muscle. The most often affected sites were orbicularis oculi, zygomatic, and orbicularis oris muscles. Stress/anxiety and relaxation were most often aggravating and relieving factors, respectively; 2.3% patients had family history, 28.4% cases were combined with hypertension, and 1.4% patients were with trigeminal neuralgia. Botulinum toxin type A (BTX-A) injection was the most commonly used treatment, followed by acupuncture and oral medication. BTX-A maintained the highest repeat treatment ratio (68.7%), while 98.4% patients gave up acupuncture. The mean latency of BTX-A effect was (5.0 ± 4.7) days, the mean total duration of the effect was (19.5 ± 11.7) weeks, and 95.9% patients developed improvements no worse than moderate in both severity and function. The most common side effect was droopy mouth.</p><p><b>CONCLUSIONS</b>The onset age of HFS in China is earlier than that in western countries. The most often used two treatments are BTX-A injection and acupuncture, while the latter kept the poor repeat treatment ratio because of dissatisfactory therapeutic effect.</p>

Clinical and radiological features in patients with DYT6 dystonia / 中华神经科杂志

Objective To summarize the clinical and radiological features of DYT6 dystonia with mutations based on the data of our patient cohort as well as the report by others.Methods Clinical data of the 11 patients with DYT6 dystonia in Peking Union Medical College Hospital from June 2009 to May 2012 were retrospectively reviewed and analyzed.Clinical data included gender,onset age,initiative symptom of onset,the sites of involvemet,family history,etc.All patients were examined for brain MRI scan,6 patients were examined for DTI.Results Of the eleven gene-confirmed DYT6 dystonia patients,7 were male and 4 were female,with an onset-age ranged from 5 years to 36 years,the mean age of onset was 19.4years.Eight patients had a family history.There were 10 patients with early onset dystonia and only 1 patient with late onset dystonia.The most common site of onset was the neck (7/11),and the next was the right arm,1-5 body areas were affected at the time of neurological assessment,the average amount was 2.8,and the most frequently affected anatomical site was the neck (10/11),next came lower face,jaw and tongue.Among all the patients,6 patients presented with segmental dystonia,4 patients presented with focal dystonia,only 1 patient presented with generalized dystonia.All the patients with thanatos-associated protein domain-containing apoptosis-associated protein (THAP) domain affected had a family history,but the patients with the same mutant gene varied with clinical manifestation.Only 1 patients with non-THAP domain affected had a family history,but in most families,there were adult asymptomatic mutant gene carriers.Mutations within the THAP domain were associated with an earlier age of onset than non-THAP domain (17.3 and 21.8 years old).Routine MRI of all patients were normal and DTI of 6 patients showed that fractional anisotropy values in the bilateral sensorimotor area in DYT6 dystonia were reduced.A detailed description of a patient with TOR1A and THAP1 gene mutations was given.Conclusions Early onset dystonia is the main manifestation in patients with DYT6 dystonia in China.The most common site of onset is the neck,and the next is the right arm.The most frequently affected anatomical site is the neck,next come lower face,jaw and tongue.Laryngeal dystonia is absent.The patients with same mutant gene show high heterogeneity in the clinical manifestations,mutations within the THAP domain of THAP1 tend to manifest at an earlier age and higher penetration than mutations localized to non-THAP domain.Reduction of fractional anisotropy values indicates that the axonal integrity and coherence in the region of sensorimotor area is damaged in DYT6 dystonia.

The functional magnetic resonance imaging study of cervical dystonia and its modulation with botulinum toxin / 中华神经科杂志

Objective To observe the cerebral activation pattern in patients with cervical dystonia (CD) during finger movements and the changes caused by botulinum toxin injection by functional MRI.The possible etiological mechanism of CD and effect of peripheral botulinum toxin treatment on the level of central nerves system are investigated.Methods A designed functional MRI block with complex finger movements was applied and 11 patients with CD as well as 11 age and gender matched controls were scanned.Compare the activation pattern of CD pre/post treatment groups versus health controls.Evaluate and compare the symtom severity with Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS).Make a correlation analysis between activation pattern alteration and TWSTRS change in CD pre/post treatment groups.Results An reduced extent of activation in patients with CD was demonstrated compared to healthy controls in ipsilateral putamen,prefrontal cortex and contralateral somatosensory cortex to the direction of the head deviation,while an elevated extent of activation in ipsilateral precuneus and fusiform with statistic significance.At the time point of 4 weeks after botulinum toxin treatment patients showed no evident difference with healthy controls except for the decreased activation in contralateral precuneus to the direction of the head deviation.TWSTRS of patients with CD decreased from (20.02 ± 5.52) to (4.11 ± 4.34) with statistic significance (t =11.71,P =0.000) after botulinum toxin treatment.There was a positive correlation between cerebral activation pattern change in some cerebral areas (ipsilateral primary somatosensory cortex,premotor cortex,supplementary motor cortex,insula,fusiform,hippocampus with parahippocampa as well as contralateral middle temporal cortex and hippocampus with parahippocampa to the direction of the head deviation) and TWSTRS score decrease.Conclusions There are widespread abnormalities in cortical and subcortical activation pattern in patients with CD,which might due to dysfunction of sensory-motor integration.We speculate a basic pre-dystonic state is present in affected body parts prior to clinical symptoms appear.Botulinum toxin fulfills its subsequent central effect by reorganizing and normalizing the cerebral cortex in patients with CD.

Analysis of the risk factors for benign essential blepharospasm / 中华神经科杂志

Objective To explore the risk factors of benign essential blepharospasm( BEB) and each factor' s intensity.Methods Totally 100 patients with BEB including Meige and cranial-cervical without other neurological abnormalities were recuited from the outpatient clinic of Department of Neurology, Peking Union Medical College Hospital from April 2009 to March 2010 as case group.At the same time, 100 outpatients diagnosed with idiopathic hemifacial spasm ( HFS) and 40 healthy controls without extrapyramidal diseases or other neurological diseases were recuited from the same outpatient clinic.All the cases and controls were investigated by questionnaires about general conditions, social behavioral factors, environmental factors, phychiatrical factors, genetic factors, previous diseases.The data was analysed by Logistic regression model with the statistical software SPSS 11.0.Results Multivariate analysis indicated that eye disease (OR = 5.818, 95% CI 2.510-13.486), anxiety (OR=3.433, 95% CI 1.548-7.610) and depression (OR =2.894, 95% CI 1.091-7.681) were positively related with BEB, whereas coffee drinking (OR = 0.251, 95% CI 0.080-0.784) had a negative relationship with BEB ( all P ＜ 0.05 ).Conclusions The risk factors of BEB are eye diseases, anxiety and depression.Coffee drinking is protective for BEB.The results suggest that local injury and phychiatrical factors may be more important than genetic factor in the aetiology of BEB.

Botulinum toxin A in treatment of tic disorder / 中华神经科杂志

Objective To evaluate the efficacy of Chinese botulinum toxin A(CBTX-A)injection in the treatment of motor tics in patients with tic disorder.Methods Twenty-five patients(20 male,5 female)were treated with CBTX-A in the sites of their most problematic motor tics.Before treatment the data of Yale Global Tic Severityb Scale(YGTSS)was collected.All patients were assessed at least 3 times after 1 week,4 weeks and within 12-month period.At each visit the following data were collected:YGTSS,Jankovic clinical rating scale,time to response,duration of response,global impression of changes by patients,presence of premonitory sensory tic component and side effects.Results Total number of treatment sessions was 29.The mean response time was 5.0 days.The mean duration of response was 4.6 months.The mean peak effect response in Jankovic clinical rating scale was 3.4.Based on YGTSS,62.1% (18/29)was rated as marked improvement,34.5%(10/29)as moderate improvement and only 3.4% (1/29)as no effect.85.7%(18/21)patients had less premonitory sensation symptoms(mean benefit 72.4%(20%-100%)).Weakness in the site of injection and rash were the main side effect. Conclusion CBTX-A is an effective and safe treatment for motor tics associated with tic disorder.

Clinical characteristics of dopa-responsive dystonia / 临床神经病学杂志

Objective To analyze the clinical characteristics of dopa-responsive dystonia (DRD). Methods The clinical characteristics and the causes of misdiagnosis in 15 patients with DRD were reviewed retrospectively.Results 4 male and 11 female patients were investigated in this study. The age at DRD onset was from 3~25 years old,the average age was 11.7 years old.The courses ranged from 2 to 29 years and the average was 12.1 years. The symptoms in female patients often aggravated during gravidity and delivery. Main clinical features included gait irregularity, postural instability and tremor, with marked diurnal fluctuation. The disease may be misdiagnosed as cerebral palsy, idiopathic torsion dystonia, essential tremor, parkinson's disease, neurosis and so on. All the patients in this study improved obviously in 2 weeks after therapy with low dose of Madopar, and recovered in 2~4 years of follow up.Conclusions Clinical diversity and diurnal fluctuation are the characteristics of DRD. Early trial treatment with low dose of Levodopa should be highly recommended for the generalized dystonia in children and untypical adults.