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.

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.

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.

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.

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.

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.

Clinical and electrophysiological study of familial cortical myoclonic tremor with epilepsy with fixation-off sensitivity / 中华神经科杂志

Objective:To discuss the clinical and electrophysiological characteristics of familial cortical myoclonic tremor with epilepsy (FCMTE) with fixation-off sensitivity (FOS).Methods:The clinical and electrophysiological characteristics of four patients diagnosed as FCMTE with FOS in the Electroencephalography (EEG) Monitoring Center of Xijing Hospital from May 2016 to December 2017 were studied and followed up.Results:The four patients were all female. The age was ranged from 29 to 67 years. The course was from six to 30 years, and the follow-up time was at least two years. The tremors and jerks occurred to the four patients frequently when the eyes were closed, which prevented their falling a sleep, and three of them had generalized tonic-clonic seizure occasionally. The FOS was monitored in the all four patients, and the photosensitivity occured to the three of them.Conclusions:The fixation-off sensitive trail during EEG monitoring is helpful to find the FCMTE with FOS. It is necessary to determine the potential clinical significance of FOS and photosensitivity coexisting in patients with FCMTE.

Essential palatal tremor: a case report and literature review / 中华神经科杂志

Essential palatal tremor is relatively rare in clinical practice, which manifests involuntary and rhythmic contraction of soft-palate along with auditory click. The cause is unknown and there is no specific treatment at present. This article reports a female patient with essential palatine tremor, who presented with involuntarily beating of soft palate, disappeared during sleep, had sensory tricks, and gradually developed mental and psychological problems such as anxiety disorders. After treatment with integrated traditional Chinese and Western medicine, the symptoms improved. The clinical features of the case were analyzed, relevant literature was reviewed, and the possible etiology and characteristics of the disease were explored, so as to provide reference for clinical diagnosis and treatment.

Research advances in clinical scales for essential tremor / 中华老年医学杂志

Essential tremor(ET)is one of the most common movement disorders, with a prevalence of 4.6% in people over 65 years old.Action tremor of both upper limbs at 4-12 Hz action tremor in both upper limbs is the main clinical feature of ET patients.ET was previously considered to be a benign isolated symptomatic disease, but in recent years, researches have found that ET is a family of diseases with high clinical and genetic heterogeneities.In addition to tremor, it can also be accompanied by soft neurological signs and various non-motor symptoms, leading to different degrees of function impairment in patients.Early comprehensive evaluation and long-term follow-up of patients with ET are essential.The standardized scale is the most important tool for ET assessment.This article reviews various tremor assessment scales.

Tremor essencial e aspectos psicológicos: considerações sobre estudos insuficientes associados / Essential tremor and psychological aspects: considerations on associated insufficient studies / Tremor esencial y aspectos psicológicos: consideraciones sobre estudios insuficientes asociados

O tremor essencial é um distúrbio do movimento que alcança até 5% da população mundial, vinculando-se a transtornos psiquiátricos e sofrimento psíquico. O presente artigo teve como objetivo identificar a produção científica brasileira sobre este tremor, considerando os aspectos psicológicos associados. Foi realizada uma revisão sistemática da literatura nacional publicada entre 1993 e 2018. As bases de dados consultadas foram SciELO, MEDLINE, LILACS e periódicos CAPES, a partir dos descritores “Tremor Essencial” e “Tremor and Essencial” e tradução para o inglês. A análise com 14 artigos identificou somente dois citando os aspectos psicológicos. Este tipo de investigação é pertinente, pois o impedimento na realização de movimentos impacta nas atividades diárias e de socialização. Os achados demonstraram a escassez de pesquisas nacionais que abordem diretamente esta relação, evidenciando a necessidade de maiores investimentos neste campo de estudo.

Essential tremor is a movement disorder that reaches 5% of the world population, linked to a psychiatric disorder and psychic suffering. The present article aimed to identify the Brazilian scientific production on this tremor, considering the associated psychological aspects. A systematic review of the national literature published between 1993 and 2018 was carried out. The databases consulted were SciELO, MEDLINE, LILACS, and CAPES journals, from the descriptors “Tremor Essential” and “Tremor and Essential”, and translation into English. The analysis with 14 articles identified only two citing the psychological aspects. This type of investigation is pertinent, since the impediment in the accomplishment of movements impacts on the daily activities and socialization. The findings demonstrated the scarcity of national surveys that directly address this relationship, evidencing the need for greater investments in this field of study.

El temblor esencial es un trastorno del movimiento que alcanza el 5% de la población mundial, vinculado a un trastorno psiquiátrico y el sufrimiento psíquico. El presente artículo tuvo como objetivo identificar la producción científica brasileña sobre este temblor, considerando los aspectos psicológicos asociados. Se realizó una revisión sistemática de la literatura nacional publicada entre 1993 y 2018. Las bases de datos consultadas fueron SciELO, MEDLINE, LILACS y revistas CAPES, a partir de los descriptores “Tremor Essencial” y “Tremor and Essencial”, y traducción al inglés. El análisis con 14 artículos identificó solamente dos citando los aspectos psicológicos. Este tipo de investigación es pertinente, pues el impedimento en la realización de movimientos impacta en las actividades diarias y socialización. Los hallazgos demostraron la escasez de investigaciones nacionales que aborden directamente esta relación, evidenciando la necesidad de mayores inversiones en este campo de estudio.

How can neurophysiological studies help with movement disorders characterization in clinical practice? A review / Como os exames neurofisiológicos podem ajudar na caracterização dos transtornos do movimento na prática clínica? Uma revisão

ABSTRACT Background: Neurophysiological studies are ancillary tools to better understand the features and nature of movement disorders. Electromyography (EMG), together with electroencephalography (EEG) and accelerometer, can be used to evaluate a hypo and hyperkinetic spectrum of movements. Specific techniques can be applied to better characterize the phenomenology, help distinguish functional from organic origin and assess the most probable site of the movement generator in the nervous system. Objective: We intend to provide an update for clinicians on helpful neurophysiological tools to assess movement disorders in clinical practice. Methods: Non-systematic review of the literature published up to June 2019. Results: A diversity of protocols was found and described. These include EMG analyses to define dystonia, myoclonus, myokymia, myorhythmia, and painful legs moving toes pattern; EMG in combination with accelerometer to study tremor; and EEG-EMG to study myoclonus. Also, indirect measures of cortical and brainstem excitability help to describe and diagnose abnormal physiology in Parkinson's disease, atypical parkinsonism, dystonia, and myoclonus. Conclusion: These studies can be helpful for the diagnosis and are usually underutilized in neurological practice.

RESUMO Introdução: Os estudos neurofisiológicos são métodos auxiliares para compreender melhor as características e a natureza dos distúrbios do movimento. A eletromiografia (EMG), em associação com o eletroencefalograma (EEG) e o acelerômetro, podem ser utilizados para avaliar um espectro de movimentos hipo e hipercinéticos. Técnicas específicas podem ser aplicadas para melhor caracterizar a fenomenologia, ajudar a distinguir a origem psicogênica da orgânica e avaliar o local mais provável de geração do movimento no sistema nervoso. Objetivo: Pretendemos fornecer ao clínico uma atualização sobre ferramentas neurofisiológicas úteis para avaliar distúrbios do movimento na prática clínica. Métodos: Revisão não sistemática da literatura publicada até junho de 2019. Resultados: Uma diversidade de protocolos foi encontrada e descrita. Dentre eles, inclui-se o uso de EMG para a definição do padrão de distonia, mioclonia, mioquimia, miorritmia e painfull legs moving toes, além do uso de EMG em associação ao acelerômetro para avaliar tremor e, em associação ao EEG para avaliar mioclonia. Ademais, técnicas para medida indireta de excitabilidade cortical e do tronco encefálico ajudam a descrever e diagnosticar a fisiologia anormal da doença de Parkinson, parkinsonismo atípico, distonia e mioclonia. Conclusão: Esses estudos podem ser úteis para o diagnóstico e geralmente são subutilizados na prática neurológica.

Pattern and treatment of Parkinson’s disease at different health care levels in Bangladesh: a hospital based survey

Background:Parkinson’s disease (PD) is a condition in which part of the brain becomes progressively damaged over many years. This study represents the pattern of Parkinson’s disease and help to identify various drugs which are being used at different health care levels in Bangladesh.Methods:Cross-sectional technique was applied as study design in this research work. We accessed the patients with formulated questionnaire of the Department of Neuroscience of National Institute of Neurosciences and Hospital, Dhaka Medical College and Hospital and Bangabandhu Sheikh Mujib Medical University (BSMMU) for data collection from January 2017 to August 2019.100 patients were selected in the ages between 25-80 years, among them 66were male and 34females.Results:A total number of 100 Parkinson’s disease patients (male 66%, female 34%) were recruited for this study. Genetic factor (56%) is the main cause of PD found in this study. Among various symptoms, the prominent symptoms were voice disorders (96%), slowness of movement (90%), mask-like face expression (86%), tremor (80%), sensory and sleep difficulties (78%), excessive sweating (60%) and insomnia (56%). It was observed that along with physiotherapy, drugs used to manage PD were levodopa (14%), carbamazepine (12%), quetiapine (12%), haloperidol (11%), pramipexole (10%), trihexyphenidyl HCl (10%), carbidopa (8%), amlodipine (8%)andclonazepam (8%).Conclusions:Disgrace exists in the personal life and social context of the PD patients which also unfavourably affects their psychosocial aspects of life. Our population-based data provide evidence for a protective effect of Parkinson’s disease in our country.

Model Simulation of the Resting Tremor Mechanism in Parkinson’s Disease / 医用生物力学

Objective To study the internal relationship between resting tremor and slow response in patients with Parkinson’s disease. Methods The movement characteristics of wrist joints in valgus direction was studied by dynamic modeling on wrist joints of the upper limbs. The system delay concept was introduced with human autonomous control and the sensory delay characteristics of Parkinson’s patients was simulated, to make stability analysis and dynamic response of the involuntary wrist movement. Results The stability analysis and numerical solution of this time-delayed control system showed that when the sensation was delayed to a certain extent, involuntary tremor of wrist joints in patients with Parkinson’s disease would happen, which conformed to resting tremor from Parkinson’s disease. Conclusions Resting tremor from Parkinson’s disease is caused by sensation and movement delay.

Infarto de la arteria de Percheron y temblor de Holmes. Presentación de caso / Infarction of Percheron artery and Holmes tremor. Case presentation

RESUMEN INTRODUCCIÓN: La arteria de Percheron suministra irrigación sanguínea a la región paramediana de ambos tálamos. El temblor de Holmes es un diagnóstico poco frecuente, más aún como resultado de un infarto talámico bilateral. CASO CLÍNICO: Paciente de 72 años de edad a quien se le diagnosticó un temblor de Holmes secundario a un infarto de la arteria de Percheron. El estudio de perfusión cerebral con 99mTc-ECD evidenció marcada hipoperfusión del caudado, cuerpo estriado y tálamo derecho. CONCLUSIÓN: Los estudios funcionales con 99mTc-ECD resultaron útiles para evidenciar la diferencia de captación entre los tálamos con la consecuente disrupción de la vía rubro-tálamo-estriada derecha en este paciente con temblor de Holmes.

SUMMARY INTRODUCTION: Percheron artery supplies blood to the paramedian region of both thalami. Holmes' tremor is an infrequent diagnosis, even more because of a bilateral thalamic infarction. CLINICAL CASE: A 72-year-old patient who was diagnosed of Holmes' tremor secondary to a Percheron artery infarction. The study of brain perfusion with 99mTc-ECD showed marked hypoperfusion of the right caudate, striatum and thalamus. CONCLUSION: Functional studies with 99mTc-ECD were useful to demonstrate the difference in uptake between the thalamus and the consequent disruption of the right-thalamus-striate pathway in this patient with Holmes' tremor.

Wilson’s Disease - A Case Report

Introduction: Wilson's disease (WD) is a disorder of coppermetabolism leading to the accumulation of this metal indifferent organs. Hepatic manifestations tend to occur in thefirst decade and neurological symptoms in the third decade.Neurological manifestations are said to worsen with chelationtherapy.Case report: In our patient however the initial manifestationwas head tremor at the age of 43 years which improved withtreatment. The patient for some reason stopped the therapy for8 years after which he decided to resume it only to precipitatethe liver cirrhosis clinically –something that has not beenreported earlier. The diagnosis was missed initially. Howevertreatment produced good results.Conclusion: The case also serves as a reminder not to dismissthis disease as a rare theoretical possibility but to suspect itin a case of liver cirrhosis of unknown etiology or when thepatient presents with an obscure isolated neurological signsuch as tremor. Delayed recognition of the disease or stoppingtherapy can lead to a progression of the disease. The patienthad many unusual features which are being reported for futurereference by researchers and practioners

Fragilidad del X y otras entidades asociadas al gen FMR1: estudio de 28 familias afectadas / Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families

El síndrome de fragilidad del cromosoma X es la causa de discapacidad intelectual heredable más frecuente. Asociado a trastornos del espectro autista en un tercio de los pacientes, afecta, con mayor prevalencia, a los varones. Se debe a una expansión de trinucleótidos CGG (citosina, guanina, guanina), llamada mutación completa en el locus Xq27.3 del gen FMR1, que conduce a la hipermetilación en el promotor del gen y reduce los niveles de expresión de FMRP, una proteína implicada en la maduración y plasticidad sináptica. Una expansión menor de CGG es la causa de insuficiencia ovárica primaria y del síndrome de temblor/ataxia asociado a X frágil, caracterizado por ataxia cerebelosa progresiva, de inicio tardío, y temblor de intención. En el presente estudio de serie de casos, se analiza la segregación de mutaciones del gen FMR1 en diferentes familias y la variabilidad de expresión clínica que llevó a la consulta genética.

The fragile X syndrome occurs due to an expansion of CGG trinucleotides, called full mutation, which is found at the Xq27.3 locus of the FMR1 gene. It is the most common cause of inherited intellectual disability. Associated with autistic spectrum disorders in one third of the patients, it affects males with higher prevalence. It also leads to hypermethylation of the gene promoter, silencing it and reducing the expression levels of FMRP, a protein involved in synaptic maturation and plasticity. A lower expansion causes primary ovarian failure syndrome as well as tremor and ataxia syndrome characterized by progressive cerebellar ataxia of late onset and intention tremor. In the present case-control study we analyze the segregation of mutations of the FMR1 gene in different families and the variability of expression that led to the genetic consultation.

Nuevos conceptos en neuromodulación cerebral: rol de DTI y estimulación de tractos / New concepts in brain neuromodulation: role of DTI and tract stimulation

Introducción: La estimulación cerebral profunda es una técnica difundida y validada para eltratamiento de múltiples dolencias neurológicas y psiquiátricas, entre ellas el temblor esencial. Objetivo: Evaluar si existe un correlato clínico-anatómico, para un paciente con TE, entre la mejor estimulación lograda y los tractos involucrados. Para esto se realiza una descripción de la técnica utilizada, incluyendo el procesamiento de imágenes necesario. Material y métodos: Se presenta el caso de un paciente de 53 años de edad, con una historia de 23 años de temblor esencial progresivo e incapacitante. Se realizó un implante de DBS bilateral en Vim. Se realizó un post procesamiento de imágenes con un método desarrollado por nuestro equipo a través del cual se permitió evaluar gráficamente el área de estimulación cerebral y sus relaciones con los tractos implicados en la patología (dento-rubro-talámico, haz piramidal y haz lemniscal). Resultados: El paciente presentó una mejoría del 55% medido por escala de temblor de Tolosa. Se obtuvo una correlación anatómica y funcional de lo esperado según imágenes y la respuesta clínica del paciente. Se constataron efectos adversos cuando la estimulación implicaba fibras del haz piramidal y lemniscal, presentando los mejores efectos clínicos cuando el haz dento-rubro-talámico era influenciado por el área de acción del campo eléctrico. Conclusiones: En este reporte mostramos la aplicabilidad de DTI y tractografía para explicar los efectos de la programación de los pacientes con estimulación cerebral profunda.

Introduction: Deep brain stimulation is a widespread and validated technique for the treatment of multiple neurological and psychiatric disorders, including essential tremor. Objective: To evaluate if there is a clinical-anatomical correlate, for a patient with essential tremor, between the best stimulation achieved and the tracts involved. For this, a description of the technique used is made, including the necessary image processing. Methods: We present the case of a 53-year-old patient with a 23-year history of progressive and disabling essential tremor. A bilateral DBS implant was performed on Vim. We performed a post-processing of images with a method developed by our team through which we were able to graphically evaluate the area of brain stimulation and its relationships with the tracts involved in the pathology (dento-rubro-thalamic tract, pyramidal tract and lemniscal tract). Conclusions: In this report we showed the applicability of DTI and tractography to explain the clinical effects of the programming features in patients with deep brain stimulation.