Etude descriptive des mouvements anormaux en neurologie en milieu hospitalier universitaire au nord du Bénin / Descriptive study of the movement disorders in neurology department at the university hospital in northern Benin

Introduction : Il n'y a aucune donnée publiée sur les mouvements anormaux (MA) au Bénin. Objectif : Etudier la fréquence, les caractéristiques cliniques et évolutifs des MA au CHUD-B/A au nord-Bénin en 2020. Matériel et méthodes : Il s'agissait d'une étude transversale descriptive avec collecte de données sur 5 ans (1er juillet 2015 - 30 juin 2020) en neurologie au CHUD/B à Parakou au Nord-Bénin. Le diagnostic et la classification des MA a été fait par un neurologue selon les critères cliniques du Consensus Statement of International Parkinson and Movements Disorders Society (MDS), et les critères révisés de Jinnah 2014 pour la dystonie. Les autres mouvements hyperkinétiques sont retenus selon les critères de Reich 2010 et les critères de Allen 2003 pour le syndrome des jambes sans repos (SJSR). Résultats : 2250 patients ont été inclus. L'âge moyen des patients MA au diagnostic était de 52,57 ± 20,77ans [1-80ans]. L'âge moyen au début des symptômes était de 49,16 ± 20,85ans [1-80ans]. Le sex-ratio était de 2,58. La fréquence des MA dans le service était de 5,73% (129/2250) et 6,68% (117/1805) en consultation ambulatoire. Les MA identifiés étaient : tremblement (72,09%), akinésie-parkinsonisme (41,08%), dystonie (7,75%), chorée (6,2%), myoclonie (3,1%), dyskinésie (2,33%), ballisme (2,33%), athétose (0,78%), akathisie (0,78%) et le SJSR (0,78%). Le parkinsonisme représentait 2,36% (53cas). Les causes des MA étaient dégénératives (27,91%), idiopathiques (27,13%), vasculaires (13,95%), iatrogènes (11,63%). Le tremblement essentiel 57,14% (28cas) touchait surtout les sujets entre 25-60 ans et n'était pas associé à l'âge (p=0,795) ni aux antécédents familiaux (p=0,417). L'évolution des MA était marquée par leur amélioration partielle 33%, une rémission complète 10,85%, le décès 7,75%. Conclusion : Les MA sont fréquents en Neurologie au CHUD/B-A. Une prise en charge optimale est nécessaire pour améliorer la qualité de vie des patients.

Introduction: There are no published data on movement disorders in Benin. Objective: We aimed to study the descriptive epidemiology, the clinical spectrums and the evolution of MD in the university hospital center of Parakou (CHUD-B/A) in northern Benin in 2020. Material and methods: It was a descriptive cross-sectional study with data collection over 5 years from 07/01/2015 to 06/30/2020 in the neurology department of CHUD-B/A. Diagnosis and classifications of MD was made by a neurologist according to clinical criteria of the Consensus Statement of International Parkinson and Movements Disorders Society (MDS), Jinnah 2014 revised criteria for dystonia, Reich 2010 for other hyperkinetic MD and Allen 2003 criteria for restless legs syndrome (RLS). Statistical analysis was made by Epidata Analysis software. Results: 2250 patients were included. The mean age of patients with MD at diagnosis was 52.57 ± 20.77years with extremes of 1 to 80 years. The mean age at onset of symptoms was 49.16 ± 20.85years [1-80years]. The sex ratio was 2.58. The frequency of MD in the department was 5.73% (129/2250) and 6.68% (117/1805) in outpatients. The MD identified were: tremor 72.09%, akinesia and parkinsonism 41.08%, dystonia 7.75%, chorea 6.2%, myoclonus 3.1%, dyskinesia 2.33%, ballism 2.33%, athetosis 0.78%, akathisia 0.78% and RLS 0.78%. Parkinsonism accounted for 2.36% (53cases). The causes of MD were degenerative (27.91%), idiopathic (27.13%), vascular (13.95%), iatrogenic (11.63%). Essential tremor (28cases) affected patients between 25-60years (57.14%). Evolution was marked by partial improvement (33%), complete remission (10.85%), and death (7.75%). Conclusion: MD are common at CHUD-B/A. Optimal management is necessary to improve the quality of life of patients.

Screening of Core Prescriptions for Tremors Based on Integrated Strategy of "Empirical Prescriptions in Ancient Books-medical Cases by Prestigious Doctors-computational Analysis" / 中国实验方剂学杂志

ObjectiveBased on the integrated strategy of "empirical prescriptions in ancient books-medical cases by prestigious doctors-computational analysis"， this study aims to explore and analyze the prescriptions and medical cases for treating tremors in traditional Chinese medicine （TCM）， predict their efficacy， and obtain the core prescriptions for treating tremors in TCM， providing references for clinical application and new drug development. MethodThe Chinese Medicine Prescription Database and the China National Knowledge Infrastructure （CNKI） were searched for relevant prescriptions and medical cases for treating tremors in TCM to establish a database of prescriptions for tremors. The Traditional Chinese Medicine Inheritance Computer System （V3.0） was used to analyze and explore the medication rules including drug frequency， properties， flavor， meridian tropism， and pharmacological effects， as well as core drugs and formula associations. A multi-target drug efficacy prediction platform based on network robustness was used to evaluate the predicted efficacy of the core prescriptions obtained. Based on the integration of ancient prescriptions， prestigious doctors' medical cases， and network analysis results， the priority level of the developed prescriptions was determined through comprehensive evaluation. ResultA total of 81 ancient prescriptions were screened， involving 246 drugs， and 171 prescriptions were screened from prestigious doctors' medical cases， involving 278 drugs. The frequently used TCM drugs were mostly warm in nature and sweet in flavor， mainly acting on the liver， spleen， and kidney meridians. In terms of efficacy， they were mainly effective in tonifying deficiency， soothing liver and extinguishing wind， activating blood and resolving blood stasis， clearing heat， and resolving exterior. Through association rules and K-means clustering， the core prescriptions were composed of high-frequency drugs such as Glycyrrhizae Radix et Rhizoma， Ginseng Radix et Rhizoma， Astragali Radix， Atractylodis Macrocephalae Rhizoma， Angelicae Sinensis Radix， Poria， Gastrodiae Rhizoma， and Uncariae Ramulus Cum Uncis. Drug combinations mainly focused on tonifying Qi and nourishing blood， with the additional functions of calming wind and dredging collaterals. Clustering analysis of core prescriptions from ancient prescriptions and prestigious doctors' medical cases， as well as multi-target drug efficacy prediction， showed that Combination 1 had the highest disturbance score on the disease network. Furthermore， comparative analysis revealed consistent results with both the analysis of ancient prescriptions and prestigious doctors' medical cases， indicating its optimal development potential based on theoretical inheritance and empirical practice. In comparison， Combinations 3， 2， and 4 were less utilized in contemporary clinical practice， with lower rankings in network disturbance scores， suggesting that their development value still warranted further exploration. ConclusionTCM clinical treatment of tremors emphasizes the regulation of the liver， spleen， and kidney. In line of syndrome differentiation， drugs potent in soothing liver， extinguishing wind， activating blood， and resolving blood stasis are added based on deficiency-tonifying drugs. The core prescriptions based on Glycyrrhizae Radix et Rhizoma， Angelicae Sinensis Radix， Paeoniae Radix Alba， Astragali Radix， Poria， and Atractylodis Macrocephalae Rhizoma （combination 1） have the highest potential development value. The integrated strategy "empirical prescriptions in ancient books-medical cases by prestigious doctors-computational analysis" can be used for the screening of candidate prescriptions for new TCM drugs.

Evaluating the outcome of idiopathic tremor through tremor analysis / 中国现代医生

@#Objective To explore the differences in tremor characteristics between patients with primary Parkinson's disease(IPD),essential tremor(ET),and Parkinson's disease developed from essential tremor(ET-PD).Method Thirty IPD patients,30 ETs,and 20 ET-PD patients were included,and the frequency,contraction pattern,and presence of harmonics of static and postural tremors were compared among the three groups.Results There were statistically significant differences(P<0.01)among the IPD group,ET group,and ET-PD group in terms of age of onset,disease course,and the unified Parkinson's disease rating scale(UPDRS)score.There were statistically significant differences(P<0.05)in the average frequency of stationary tremors,average frequency of postural tremors,rate of alternating tremors in stationary state,rate of alternating tremors in postural state,and rate of harmonic occurrence in stationary state among the IPD group,ET group,and ET-PD group,as well as in the rate of harmonic occurrence in postural state(P<0.05).Conclusion The IPD group,ET group,and ET-PD group each have significant differences in tremor characteristics.The ET-PD group has both characteristics and uniqueness,and tremor analysis can help identify this disease.

Clinical characteristics of patients with migraine accompanied by tremor / 中南大学学报(医学版)

Objective:Migraine and tremor share some genetic mutation sites,and clinical studies have also confirmed their correlation.This study aims to explore the clinical and electrophysiological characteristics of migraine patients with concomitant tremor,and to analyze the relevant influential factors of tremor occurrence. Methods:We retrospectively analyzed the clinical data of 217 migraine patients who visited the Third Affiliated Hospital of Qiqihar Medical University from June 2022 to October 2023.The Clinical Rating Scale for Tremor(CRST),Numerical Rating Scale(NRS),Generalized Anxiety Disorder-7(GAD-7),and Patient Health Questionnaire-9(PHQ-9)were respectively used to assess the tremor symptoms,degree of headache,anxiety,and depression of patients.All patients underwent routine head MR scanning and electromyography examination,and were divided into a migraine with tremor group and a migraine without tremor group based on the electromyogram examination. Results:The migraine with tremor group and the migraine without tremor group were included 52 patients(23.96%)and 165 patients(76.04%),respectively.Compared with the migraine without tremor group,the migraine with tremor group had a longer course and duration of headache,higher frequency of headache attacks,higher NRS score,GAD-7 score,and PHQ-9 score,and fewer weekly physical exercises.The differences were statistically significant(all P<0.05).There were no statistically significant differences in the presence or absence of prodromal headache and white matter hyperintensities(WMHs)between the 2 groups(both P>0.05).The evaluation results of the CRST showed that out of 217 migraine patients,39 patients(17.97%)were accompanied by tremors.The electromyographic results showed that all 52 migraine patients with tremors had upper limb tremors,including 28 migraine patients with postural tremors and 24 migraine patients with static tremors.Compared with the migraine patients with static tremors,the migraine patients with postural tremors had lower average frequency,peak frequency,and headache onset frequency(all P<0.05).Multiple linear regression analysis showed that frequency of physical exercise,duration of illness,frequency of headache attacks,NRS score,GAD-7 score,and PHQ-9 score were risk factors for migraine patients with concomitant tremors(all P<0.05). Conclusion:Patients with migraine mainly experience upper limb postural tremors.Reduced physical exercise,long course of disease,long duration of headache,frequent headache attacks,severe headache,anxiety,and depression are risk factors for migraine patients with concomitant tremors.

Comparison of 25-hydroxyvitamin D and bilirubin levels between patients with essential tremor and Parkinson's disease / Comparação dos níveis de 25-hidroxivitamina D e bilirrubina entre pacientes com tremor essencial e doença de Parkinson

Introduction: Differential diagnoses between essential tremor and Parkinson's disease is challenging in some individuals, with both disorders sharing similarities. Considering these links, we hypothesized that both conditions have a similar profile for some antioxidant molecules, including 25-hydroxyvitamin D and bilirubin. Methods: We performed a cross-sectional study comparing serum levels of 25-hydroxyvitamin D and bilirubin in 31 ET patients, 38 PD, and 65 controls matched for age. We used the Fahn-Tolosa-Marin scale for the severity of tremors in the ET group. We used Hohen-Yahr and MDS-UPDRS part III scales in the PD group. In addition, we evaluated sociodemographic characteristics, including age, sex, ethnicity, years of study, duration of disease, and use of primidone. Results: We found no differences in serum levels for 25-hydroxyvitamin D or bilirubin subtype levels between the ET and PD groups. We found low levels of indirect bilirubin in the PD group compared to the controls. We did not find differences between ET and controls in all biomarkers of the study. Conclusion: ET and PD patients have similar profiles for 25-hydroxyvitamin D and bilirubin serum levels. The discovery of differences in oxidative stress biomarkers in both conditions, mainly low-cost substances available clinically, can assist in the differential diagnosis and, in the future, prognostication and better therapy management (AU).

Introdução: O diagnóstico diferencial entre tremor essencial (TE) e a doença de Parkinson (DP) é desafiador em alguns indivíduos com ambas as afecções apresentando algumas similaridades. Assim sendo, hipotetizamos que ambas têm perfil similar de algumas moléculas antioxidantes, incluindo 25-hidroxivitamina D e bilirrubina. Méto-dos: Realizamos um estudo transversal comparando os níveis séricos de 25-hidroxivitamina D e bilirrubinas em 31 indivíduos com TE, 38 com DP e 65 controles pareados por idade. A escala de Fahn-Tolosa-Marin foi usada para avaliação da gravidade do tremor no grupo com TE e Hohen-Yahr e UPDRS parte III na avaliação do grupo com DP. Também foram avaliadas as características sociodemográficas. Resultados: Não encontramos diferenças nos níveis séricos de 25-hidroxivitamina D ou bilirrubina entre os grupos TE e DP. Encontramos baixos níveis de bilirrubina indireta no grupo DP comparado aos controles. Não encontramos diferenças entre os grupos com TE e controles em nenhum dos biomarcadores do estudo. Conclusão: Pacientes com TE e DP apresentam níveis séricos semelhantes de 25-Hidroxivitamina D e bilirrubinas. Diferenças nos biomarcadores de estresse oxidativo em ambas as condi-ções, principalmente substâncias de baixo custo disponíveis na clínica, pode auxiliar no diagnóstico diferencial e, futuramente, no prognóstico e otimização terapêutica (AU).

Movement disorders in hereditary spastic paraplegias / Distúrbios de movimento em paraplegia espástica hereditária

Abstract Background Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. The complicated forms evolve with other various neurological signs and symptoms, including movement disorders and ataxia. Objective To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the task of diagnosing these diseases. Methods We conducted a narrative review of the literature, including case reports, case series, review articles and observational studies published in English until December 2022. Results Juvenile or early-onset parkinsonism with variable levodopa-responsiveness have been reported, mainly in SPG7 and SPG11. Dystonia can be observed in patients with SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 and SPG76. Tremor is not a frequent finding in patients with SPG, but it is described in different types of SPG, including SPG7, SPG9, SPG11, SPG15, and SPG76. Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and neuropathy). SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. And autosomal recessive SPG such as SPG7 and SPG11 can also present with ataxia. Conclusion Patients with SPG may present with different forms of movement disorders such as parkinsonism, dystonia, tremor, myoclonus and ataxia. The specific movement disorder in the clinical manifestation of a patient with SPG may be a clinical clue for the diagnosis.

Resumo Antecedentes As paraplegias espásticas hereditárias ou familiares (SPG) compreendem um grupo de doenças geneticamente e fenotipicamente heterogêneas caracterizadas por degeneração progressiva dos tratos corticospinais. As formas complicadas evoluem com vários outros sinais e sintomas neurológicos, incluindo distúrbios do movimento e ataxia. Objetivo Resumir as descrições clínicas de SPG que se manifestam com distúrbios do movimento ou ataxias para auxiliar o clínico na tarefa de diagnosticar essas doenças. Métodos Realizamos uma revisão da literatura, incluindo relatos de casos, séries de casos, artigos de revisão e estudos observacionais publicados em inglês até dezembro de 2022. Resultados O parkinsonismo juvenil ou de início precoce com resposta variável à levodopa foi relatado principalmente em SPG7 e SPG11. A distonia pode ser observada em pacientes com SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 e SPG76. O tremor não é um achado frequente em pacientes com SPG, mas é descrito em diferentes tipos de SPG, incluindo SPG7, SPG9, SPG11, SPG15 e SPG76. A mioclonia é raramente descrita em SPG, afetando pacientes com SPG4, SPG7, SPG35, SPG48 e SPOAN (paraplegia espástica, atrofia óptica e neuropatia). SPG4, SPG6, SPG10, SPG27, SPG30 e SPG31 podem raramente apresentar ataxia com atrofia cerebelar. E SPG autossômico recessivo, como SPG7 e SPG11, também pode apresentar ataxia. Conclusão Indivíduos com SPG podem apresentar diferentes formas de distúrbios do movimento, como parkinsonismo, distonia, tremor, mioclonia e ataxia. O distúrbio específico do movimento na manifestação clínica de um paciente com SPG pode ser uma pista clínica para o diagnóstico.

Neuro estímulo eléctrico periférico no invasivo como opción terapéutica en temblor esencial / Non-invasive peripheral electrical nerve stimulation as a therapeutic option in essential tremor / Estimulação elétrica nervosa periférica não invasiva como opção terapêutica no tremor essencia

El temblor esencial es el trastorno de movimiento más común en la actualidad, su prevalencia aumenta conforme lo hace la edad y se caracteriza principalmente por ser un temblor de acción de miembros superiores que puede llegar a afectar miembros inferiores, tronco y cabeza. Afecta directamente la calidad de vida de las personas al limitar las actividades del diario vivir llevando al desarrollo de trastornos como ansiedad y depresión. Objetivo. Describir los efectos adversos y la eficacia de los neuro estímulos periféricos no invasivos como opción terapéutica para el temblor esencial. Metodología. Se empleó la metodología de una revisión sistemática, basadas en las directrices PRISMA 2021 mediante la búsqueda de información en las siguientes bases de datos, PubMed, Scopus y Web of science. Además, se realizó una búsqueda especifica de todos los estudios centrados en la temática cuyo algoritmo de búsqueda se presenta a continuación, "terapia no invasiva" AND "temblor esencial" AND "neuroestimulación" AND "estimulación eléctrica transcutánea" en idioma español e inglés, entre los años 2017- 2022. Conclusión. La neuroestimulación eléctrica periférica no invasiva se presenta como una opción terapéutica prometedora en el tratamiento del temblor esencial. Los estudios han demostrado una mejora significativa en los síntomas del temblor en pacientes tratados con neuroestimulación eléctrica periférica no invasiva, lo que sugiere que este enfoque puede ser beneficioso para pacientes que no responden a otros tratamientos convencionales o que experimentan efectos secundarios adversos. Además, la neuroestimulación eléctrica periférica no invasiva es una técnica segura y bien tolerada por los pacientes.

Essential tremor is the most common movement disorder today, its prevalence increases with age and is characterized mainly as an action tremor of the upper limbs that can affect the lower limbs, trunk and head. It directly affects the quality of life of people by limiting the activities of daily living leading to the development of disorders such as anxiety and depression. Objective. To describe the adverse effects and efficacy of noninvasive peripheral neuro-stimuli as a therapeutic option for essential tremor. Methodology. The methodology of a systematic review was used, based on the PRISMA 2021 guidelines, by searching for information in the following databases: PubMed, Scopus and Web of science. In addition, a specific search was performed for all studies focused on the topic whose search algorithm is presented below, "noninvasive therapy" AND "essential tremor" AND "neurostimulation" AND "transcutaneous electrical stimulation" in Spanish and English language, between the years 2017- 2022. Conclusion. Noninvasive peripheral electrical neurostimulation is presented as a promising therapeutic option in the treatment of essential tremor. Studies have demonstrated significant improvement in tremor symptoms in patients treated with noninvasive peripheral electrical neurostimulation, suggesting that this approach may be beneficial for patients who do not respond to other conventional treatments or who experience adverse side effects. In addition, noninvasive peripheral electrical neurostimulation is a safe technique that is well tolerated by patients.

O tremor essencial é o distúrbio de movimento mais comum atualmente, sua prevalência aumenta com a idade e é caracterizado principalmente como um tremor de ação do membro superior que pode afetar os membros inferiores, o tronco e a cabeça. Ele afeta diretamente a qualidade de vida das pessoas ao limitar as atividades da vida diária, levando ao desenvolvimento de distúrbios como ansiedade e depressão. Objetivo. Descrever os efeitos adversos e a eficácia dos neuroestímulos periféricos não invasivos como opção terapêutica para o tremor essencial. Metodologia. Utilizamos a metodologia de uma revisão sistemática, com base nas diretrizes PRISMA 2021, buscando informações nos seguintes bancos de dados: PubMed, Scopus e Web of science. Além disso, foi realizada uma busca específica de todos os estudos focados no assunto cujo algoritmo de busca é apresentado a seguir, "terapia não invasiva" AND "tremor essencial" AND "neuroestimulação" AND "estimulação elétrica transcutânea" em espanhol e inglês, entre 2017 e 2022. Conclusão. A neuroestimulação elétrica periférica não invasiva é apresentada como uma opção terapêutica promissora no tratamento do tremor essencial. Estudos demonstraram melhora significativa nos sintomas do tremor em pacientes tratados com neuroestimulação elétrica periférica não invasiva, sugerindo que essa abordagem pode ser benéfica para pacientes que não respondem a outros tratamentos convencionais ou que apresentam efeitos colaterais adversos. Além disso, a estimulação elétrica nervosa periférica não invasiva é uma técnica segura e bem tolerada pelos pacientes.

Research progress of SLC1A2 gene and essential tremor / 中国医师杂志

Essential tremor (ET) is a common dyskinesia disease characterized by tremor. ET is clinically heterogeneous. In addition to the motor symptoms with tremor as the main manifestation, it also includes non-motor symptoms such as neuropsychiatric symptoms (anxiety, depression), personality changes, sleep disorders, etc. Among them, anxiety and depression are the most common, and gradually worsen as the disease progresses, causing adverse effects on the quality of life of patients. Therefore, the early clinical full text of looking for ET psychiatric symptoms seems to have no content of the evaluation scale and is irrelevant. It is suggested that removing biomarkers plays an important role in the diagnosis and treatment of ET patients. Genome-Wide Association Studies (GWAS) describes the SLC1A2 gene associated with ET, and the EAAT2 or GLT1 encoded by this gene is associated with the anxiety and depression phenotypes of ET patients in non-motor symptoms. Up to now, the pathogenesis of ET patients is not clear, but many reports confirm that genetic factors play an important role in the pathogenesis of ET. Among them, SLC1A2 is expected to become a biomarker of the neuropsychiatric phenotype of the disease, providing a basis for clinical workers to take corresponding intervention measures in time. This article reviews SLC1A2 gene and essential tremor.

Opinions on the nomenclature of familial cortical myoclonic tremor with epilepsy / 中华神经科杂志

Familial cortical myoclonic tremor with epilepsy (FCMTE) is a rare neurological disorder. There were more than 10 different terms of disease name in domestic and international published articles by searching FCMTE from PubMed and Wanfang database (from 1990 to 2022), which indicated the different understanding of the disease. It is necessary to discuss the correct and consentaneous name of the disease to facilitate the professional investigation in the future. The name evolution of FCMTE and the author′s views are described in this article.

Serum miR-1976 and GDF-15 levels and associations with postural and gait abnormalities in patients with Parkinson disease / 中风与神经疾病杂志

@#Objective To investigate the changes in the levels of serum miR-1976 and growth differentiation factor 15(GDF-15) in patients with Parkinson disease(PD) and their relationships with postural and gait abnormalities. Methods We included 76 patients with PD(PD group) and 53 healthy participants from health examination(control group) in our hospital from March 2020 to October 2022.Serum miR-1976 and GDF-15 levels were measured for all the subjects. The expression of serum miR-1976 and GDF-15 was compared between PD patients with different motor subtypes. A receiver operating characteristic(ROC) curve was used to analyze the value of miR-1976 combined with GDF-15 in predicting PD with the type of abnormal posture and gait. Results Serum miR-1976 and GDF-15 levels in the PD group were significantly higher than those in the control group(both P<0.05). Spearman correlation analysis showed that the severity of PD was positively correlated with serum miR-1976 and GDF-15 levels(both P<0.05). Logistic regression analysis showed that high expression of serum miR-1976 and GDF-15 was related to posture/gait abnormality type in patients with PD(both P<0.05). The ROC curve showed that the area under the curve for miR-1976 plus GDF-15 was 0.907,which was largest,with sensitivity of 92.50% and specificity of 77.78%. Conclusion Serum miR-1976 and GDF-15 levels were increased in patients with PD,positively reflecting the severity of the disease. In addition,the patients with posture/gait abnormality type had higher serum miR-1976 and GDF-15 levels than those with tremor type. Combined detection can effectively predict PD with posture/gait abnormality type,which can improve the diagnostic accuracy and facilitate early clinical prevention and treatment.

Value of brain functional connectivity density in differentially diagnosing different motor subtypes of Parkinson's disease and its correlation with clinical symptom scores / 中华神经医学杂志

Objective:To investigate the value of brain functional connectivity density (FCD) derived from resting-state functional magnetic resonance imaging (rs-fMRI) in differentially diagnosing 2 subtypes of Parkinson's disease (PD): tremor dominant (TD) and non-tremor dominant (nTD), as well as its correlation with clinical symptom scores.Methods:A retrospective analysis was performed; 45 PD patients (25 with TD and 20 with nTD), admitted to Department of Neurology, Drum Tower Hospital Affiliated to Medical School of Nanjing University were chosen; and 24 middle-aged and elderly volunteers matched in age, gender and years of education at the same time were chosen as normal controls (NCs). The rs-fMRI data were collected and FCD map of the whole brain was computed. The FCD differences in whole brain and brain regions enjoying different FCD were compared among the 3 groups. ROC curve was used to analyze the differential diagnostic efficacy of FCD in brain regions enjoying different FCD in TD and nTD. Correlations of FCD in brain regions enjoying different FCD with disease course, Hoehn-Yahr (H-Y) grading, unified Parkinson's disease rating scale (UPDRS) III scores, tremor scores and non-tremor scores were analyzed by Pearson or Spearman correlation analyses.Results:Brain regions enjoying different FCD among the TD, nTD, and NC groups were the right lingual gyrus, right orbital medial frontal gyrus, right insula, left superior temporal gyrus, left insula, right anterior central gyrus, left posterior central gyrus, right medial and paracingulate gyrus, and left angular gyrus. FCD in the right orbital medial frontal gyrus and left angular gyrus of TD group was significantly higher than that in the nTD group ( P<0.05); while FCD in the right insula, right anterior central gyrus, left posterior central gyrus and right medial and paracingulate gyrus of TD group was significantly lower than that in the nTD group ( P<0.05). Area under the curve of combined application of FCD in brain regions enjoying different FCD in differentially diagnosing TD and nTD was 0.842, with sensitivity and specificity of 80.0%. FCD in the left superior temporal gyrus and left posterior central gyrus was positively correlated with H-Y grading ( P<0.05), while FCD in the left angular gyrus was negatively correlated with H-Y grading ( P<0.05). FCD in the left superior temporal gyrus was positively correlated with UPDRS III scores ( P<0.05). FCD in the right lingual gyrus, right insula, left insula, right anterior central gyrus, left posterior central gyrus, right medial and paracingulate gyrus was negatively correlated with tremor scores ( P<0.05). FCD in the left superior temporal gyrus, right medial and paracingulate gyrus was positively correlated with non-tremor scores ( P<0.05), whereas that in the left angular gyrus was negatively correlated with non-tremor scores ( P<0.05). Conclusion:Abnormalities in FCD exist in certain brain regions of PD patients, with disparities between TD and nTD. Combined application of FCD in brain regions enjoying different FCD can effectively differentiate TD and nTD, and this FCD is also partially correlated with the symptom scores of PD patients.

Adaptive repetitive control of wrist tremor suppression based on functional electrical stimulation / 生物医学工程学杂志

Tremor is an involuntary and repetitive swinging movement of limb, which can be regarded as a periodic disturbance in tremor suppression system based on functional electrical stimulation (FES). Therefore, using repetitive controller to adjust the level and timing of FES applied to the corresponding muscles, so as to generate the muscle torque opposite to the tremor motion, is a feasible means of tremor suppression. At present, most repetitive control systems based on FES assume that tremor is a fixed single frequency signal, but in fact, tremor may be a multi-frequency signal and the tremor frequency also varies with time. In this paper, the tremor data of intention tremor patients are analyzed from the perspective of frequency, and an adaptive repetitive controller with internal model switching is proposed to suppress tremor signals with different frequencies. Simulation and experimental results show that the proposed adaptive repetitive controller based on parallel multiple internal models and series high-order internal model switching can suppress tremor by up to 84.98% on average, which is a significant improvement compared to the traditional single internal model repetitive controller and filter based feedback controller. Therefore, the adaptive repetitive control method based on FES proposed in this paper can effectively address the issue of wrist intention tremor in patients, and can offer valuable technical support for the rehabilitation of patients with subsequent motor dysfunction.

Analysis of clinical, electromyographic characteristics in tremor patients with neuronal intranuclear inclusion disease / 中华神经科杂志

Objective:To analyze the clinical, electromyographic and tremor characteristics in tremor patients with neuronal intranuclear inclusion disease (NIID).Methods:From May 2018 to April 2023, 34 patients with NIID diagnosed in the Department of Neurology, Beijing Tiantan Hospital of Capital Medical University were retrospectively included. Sixteen patients with tremor of at least one limb and (or) head were in tremor group, and 18 patients without tremor were in control group. The clinical, electromyogram and tremor data of all participants were summarized, the clinical features and electromyogram differences of the 2 groups were compared, and the tremor characteristics of patients with NIID were analyzed.Results:The proportion of female patients in the tremor group was higher than that in the non tremor group (12/16 vs 7/18, P=0.045). The proportion of upper and lower limb peripheral nerve damage in the tremor group was lower than that in the non tremor group (2/16 vs 9/18, P=0.030), with statistical significance. There was no significant difference between the 2 groups in higher cortex and autonomic nervous dysfunction. The amplitude of composite muscle action potential and sensory nerve action potential in all patients was normal or slightly decreased; some patients experienced a decrease in motor and sensory fiber conduction velocity. The proportion of motor and sensory nerve conduction velocity slowing in the non tremor group was higher than that in the tremor group [motor nerve:41.7%(30/72) vs 17.2%(11/64), χ 2=9.64, P=0.002;sensory nerve:38.9% (35/90) vs 20.0%(16/80), χ 2=7.19, P=0.007]. The number of cases of postural tremors in different parts among the 16 patients was as follows: 13 in the upper limbs, 7 in the lower limbs, and 6 in the head; static tremor: 8 cases in the upper limbs, 3 cases in the lower limbs, and 5 cases in the head. At rest, the frequency of tremors in different parts of the body was as follows: upper limb (5.3±1.1) Hz, lower limb (4.2±0.4) Hz, and head (3.9±0.6) Hz. The difference in tremor frequency among the 3 parts was statistically significant ( F=3.92, P=0.047); Pairwise comparison showed that the frequency of head tremor was lower than that of upper limb tremor, with a statistically significant difference ( P=0.020). In a postural state, tremor frequency in different parts was as follows: upper limb (5.4±0.9) Hz, lower limb (5.0±0.7) Hz, head (3.9±0.7) Hz. There was a statistically significant difference in tremor frequency among the 3 parts ( F=6.65, P=0.005). Further pairwise comparison revealed statistically significant differences in tremor frequency between the patient′s head, upper and lower limbs ( P=0.001, P=0.022). Synchronous tremor rhythm was predominant, with occasional alternations or synchronous+alternations. There was no harmonic tremor spectrum was observed. Conclusions:NIID patients with tremors were more common in female patients.The degree of peripheral nerve damage was milder than those without tremors. The site and form of tremor were diverse, with a dominant frequency of 4-6 Hz, mainly synchronous rhythm, and no harmonic spectrum. Postural tremors were common in the limbs.

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.

Pseudo-orthostatic tremor as a manifestation of vitamin B12 deficiency: A case report

@#Vitamin B12 deficiency has long been known to present with various neurological manifestations, but only rarely presents as movement disorders, especially in adults. We present the case of a 30-year-old vegan male presenting with tremors on both legs when standing which was relieved by vitamin B12 supplementation. To the best of our knowledge, this is the first documented case of slow orthostatic tremor or pseudo-orthostatic tremor caused by vitamin B12 deficiency.

Morbidity and outcome of post-stroke Holmes tremor / 中国康复理论与实践

@#Objective To investigate the incidence of Holmes tremor (HT) after stroke and its outcome after medication and rehabilitation. Methods Patients diagnosed as HT after stroke in the ward of neurorehabilitation department from October, 2019 to September, 2021 were reviewed the clinical features, imaging manifestations, drug treatment plan, rehabilitation evaluation scales scores, rehabilitation plan and outcome. Results There were five inpatients with HT (0.7%, 5/715), and all were hemorrhagic stroke, accounting for 1.7% of hemorrhagic stroke. The lesions were located in the midbrain and pons in three cases, cerebellum in one case and thalamus in one case. The tremor appeared 1.5 to seven months after stroke, limited on head and limbs, with other neurological dysfunction. After the comprehensive treatment of drugs and rehabilitation, tremor improved in four cases, and ineffective in one case. The motor and balance function improved less, and the activities of daily living improved somehow. Conclusion The incidence of Holmes tremor is low in stroke patients. The tremor might respond to the treatment, but motor function would not.

The value of proton magnetic resonance spectroscopy in the diagnosis of different subtypes of Parkinson's disease and their differential diagnosis from essential tremor / 中华老年医学杂志

Objective:To compare the differences in N-acetylaspartate/creatine(NAA/Cr), N-acetylaspartate/choline(NAA/Cho)and choline/creatine(Cho/Cr)in different brain regions of patients with different motor subtypes of Parkinson's disease(PD)or essential tremor(ET)using proton magnetic resonance spectroscopy( 1H-MRS), and to provide an imaging basis for the diagnosis of different PD subtypes and their differential diagnosis from ET. Methods:92 PD outpatients and inpatients, ET patients and healthy individuals receiving check-ups at our hospital from June 2018 to May 2021were retrospectively enrolled and divided into four groups: tremor-dominant(TD)(n=45), postural instability and gait disorders(PIGD)(n=47), ET(n=44), and healthy controls(n=40). Participant clinical information was collected and bilateral basal ganglia and cerebellar cortex 1H-MRS examinations were performed for each group.Values of NAA/Cr, NAA/Cho and Cho/Cr of the basal ganglia and the cerebellar cortex were compared between the groups. Results:NAA/Cr and NAA/Cho values in the basal ganglia were 1.65±0.19 and 1.55±0.20 for the TD group and 1.48±0.11 and 1.46±0.17 for the PIGD group, respectively, lower than in the control group(NAA/Cr: 1.92±0.28; NAA/Cho: 2.08±0.34)and the ET group(NAA/Cr: 2.10±0.16; NAA/Cho: 2.23±0.23), with statistical significance( P<0.05), whereas Cho/Cr values for the former two groups(TD: 1.07±0.25; PIGD: 1.02±0.13)were higher than in the latter two groups(control: 0.92±0.27; ET: 0.91±0.21), with statistical significance( P<0.05). NAA/Cr values of the basal ganglia in the PIGD group were lower than in the TD group( P<0.05). NAA/Cr, NAA/Cho and Cho/Cr values of the basal ganglia in the ET group were not statistically different compared with those in the control group( P>0.05). In the cerebellar cortex, NAA/Cr(0.72±0.16)and NAA/Cho(0.78±0.14)in the ET group were lower than in the control group(0.92±0.20)and(1.12±0.17), the TD group(0.90±0.14); (1.10±0.13)and the PIGD group(0.89±0.25)and(1.08±0.17)( P<0.05). NAA/Cr, NAA/Cho and Cho/Cr values of the cerebellar cortex for the TD group, the PIGD group and the control group had no statistical difference( P>0.05). Conclusions:1H-MRS can detect brain metabolic changes with damage or loss of neurons in the basal ganglia of PD patients and the cerebellar cortex of ET patients, potentially providing an objective imaging basis for early diagnosis of PD, its subtyping and the differential diagnosis from ET.

Síndrome X frágil y otras patologías asociadas al gen FMR1 / Fragile X Syndrome and Other Pathologies Associated with the FMR1 Gene / Síndrome do X frágil e outras patologias associadas ao gene FMR1

Resumen: el síndrome X frágil es la causa más frecuente de retraso psicomotor vinculado al cromosoma X en niños, con una prevalencia de 1 : 5.000 en hombres y 1 : 4.000 - 8.000 en mujeres. Además, es la causa hereditaria más asociada al síndrome del espectro autista. Esta patología posee como base etiológica la expansión del triplete CGG en el extremo distal del gen FMR1, lo que causa su silenciamiento. Los pacientes afectados con este síndrome suelen padecer de problemas conductuales, neurológicos, cardíacos y ortopédicos. Este síndrome también se relaciona con la insuficiencia ovárica primaria asociada al X frágil, y el síndrome de temblor y ataxia asociado al X frágil que afectan a la madre y al abuelo materno, y que, por su reciente descripción, podrían ser desconocidos por el personal sanitario, lo que retrasa su diagnóstico y tratamiento. El objetivo de este artículo es analizar estas enfermedades, con el fin de describir el conocimiento actual sobre su etiología, las manifestaciones clínicas, el diagnóstico y el tratamiento. Esto se realizó mediante la recopilación de artículos en Pubmed, con algunas contribuciones de las bases de datos Scielo, Redalyc, Europe PMC, Science Direct, Google Académico y Genetics Home Reference. Entre las conclusiones principales se destaca que los fenotipos asociados a la premutación del gen FMR1 contemplan mecanismos fisiopatológicos diferentes al síndrome X frágil, a pesar de estar íntimamente relacionados.

Abstract: fragile X syndrome is the most common cause of X-linked psychomotor retardation in children, with a prevalence of 1 : 5.000 in males and 1 : 4.000 -8.000 in females. It is also the hereditary cause most associated with autism spectrum syndrome. The etiological basis of this pathology is the expansion of the CGG triplet at the distal end of the FMR1 gene, which causes its silencing. Patients affected with this syndrome usually suffer from behavioral, neurological, cardiac and orthopedic problems. This syndrome is also related to Fragile X-associated primary ovarian insufficiency, and Fragile X-associated tremor and ataxia syndrome affecting the mother and maternal grandfather, which, because of their recent description, may be unknown to health care providers, delaying their diagnosis and treatment. The objective of this article is to analyze these diseases, in order to describe the current knowledge about their etiology, clinical manifestations, diagnosis and treatment. This was done by collecting articles in Pubmed, with some contributions from Scielo, Redalyc, Europe PMC, Science Direct, Google Scholar and Genetics Home Reference databases. Among the main conclusions, it is highlighted that the phenotypes associated with FMR1 gene premutation involve different pathophysiological mechanisms to Fragile X syndrome, despite being closely related.

Resumo: a síndrome do X frágil é a causa mais comum de retardo psicomotor ligado ao cromossomo X em crianças, com prevalência de 1 : 5.000 em homens e 1 : 4.000 a 8.000 em mulheres. Além disso, é a causa mais hereditária associada à síndrome do espectro do autismo. Essa patologia tem como base etiológica a expansão do trigêmeo CGG na extremidade distal do gene FMR1, o que causa seu silenciamento. Pacientes com essa síndrome geralmente sofrem de problemas comportamentais, neurológicos, cardíacos e ortopédicos. Essa síndrome também está relacionada à insuficiência ovariana primária associada ao X frágil, à síndrome do tremor e à ataxia associada ao X frágil, que acometem a mãe e o avô materno, e que, devido à sua descrição recente, poderiam ser desconhecidas pelos profissionais de saúde, o que atrasa seu diagnóstico e tratamento. O objetivo deste artigo é analisar essas doenças, a fim de descrever o conhecimento atual sobre sua etiologia, manifestações clínicas, diagnóstico e tratamento. Isso foi feito através da recopilação de artigos no Pubmed, com algumas contribuições das bases de dados Scielo, Redalyc, Europe PMC, Science Direct, Google Academic e Genetics Home Reference. Dentre as principais conclusões, destaca-se que os fenotipos associados à premutação do gene FMR1 incluem outros mecanismos fisiopatológicos além da síndrome do X frágil, apesar de eles estarem intimamente relacionados.

Mioclonía palatina esencial. Reporte de un caso pediátrico / Essential palatal myoclonus. A pediatric case report

La mioclonía palatina esencial es una entidad otoneurológi-ca rara. Se caracteriza por movimientos involuntarios de los músculos del paladar blando que causan un tinnitus objetivo.La mioclonía del paladar se clasifica en dos tipos: secundaria y primaria (mioclonía palatina esencial); esta última es más frecuente en pediatría. La tomografía computada y la reso-nancia magnética de cerebro normal orientan al diagnóstico. La mioclonía palatina esencial, generalmente, se resuelve en forma espontánea.Se presenta a una paciente de 8 años de edad con un "clic" rápido en forma rítmica en su boca que cedía en forma espontánea

Essential palatal myoclonus is a rare neurological disorder characterized by involuntary movements of the soft palate musculature causing objective-clicking tinnitus. The palatal myoclonus is classified in two forms, secondary and essential palatal myoclonus. Primary (essential) palatal myoclonus is the most common type in childhood. Normal computed tomography and magnetic resonance guide the diagnosis. Spontaneous resolution usually occurs in the essential type of palatal myoclonus.In this report, we present an 8-year-old child making rhythmic, rapid clicking noises from her throat with spontaneous resolution.

Recent advances in diagnoses and treatments of orthostatic tremor / 中华神经医学杂志

Orthostatic tremor is a rare movement disorder. It is characterized by unsteadiness when standing and it can be relieved when sitting or walking. It is confirmed on neurophysiological recording by the presence of a fast tremor of 13-18 Hz in the legs and trunk. Due to a small number of cases reported, most clinicians lack of understanding of the disease, resulting in misdiagnosis. This review summarizes the clinical characteristics, pathophysiology, differential diagnoses, and treatment strategies of orthostatic tremor to improve the understanding of the disease among clinicians.