Essential Tremor: Update of Therapeutic Strategies. / Temblor esencial: actualización de las estrategias terapéuticas.

In the last decades there has been progress in the treatment of essential tremor (TE) especially in the surgical field and to a lesser extent in the pharmacological field. We carry out a review of the currently available treatments. The first intervention is the use of non-pharmacological and non-surgical strategies (general advice, occupational therapy, speech therapy, psychotherapy). With discrete advances, the pharmacological treatment is not very satisfactory. Only 30-60% of patients have a positive response, and in these the anti-tremor effectiveness is 40-60%. The first-line drugs are still propranolol and primidone. In cases with severe tremor we will consider a surgical option, the method of choice being thalamotomy using high-intensity focused ultrasound. In the future we must continue to study the pathophysiology of TE, develop drugs specifically designed for TE and improve the technology of available invasive techniques.

Temblor esencial: ¿el gato tiene cinco pies? Síntomas no motores y temblor esencial plus / Essential tremor: are we just splitting hairs? Non-motor symptoms and essential tremor-plus

Introducción: La existencia de síntomas no motores en el temblor esencial (TE) y la aparición de una nueva entidad, el TE plus, son dos temas controvertidos. Objetivos: Exponer una revisión del estado actual de estos dos temas. Desarrollo: Análisis de los estudios sobre síntomas no motores en el TE, y de los artículos favorables y contrarios al término TE plus. Conclusiones: Los síntomas no motores han aumentado su reconocimiento como un dato acompañante del TE. Varios estudios han documentado su presencia en comparación con controles pareados. Ahora bien, no está claro si estos síntomas no motores formarían parte del espectro de síntomas del TE (fenómeno primario), o si se trataría de síntomas que aparecen como consecuencia de la discapacidad física o psíquica producida por la propia sintomatología del TE (fenómeno secundario). De momento, su evaluación y su tratamiento no forman parte de la valoración estándar de los pacientes con TE. Ante el fenotipo heterogéneo, el término TE plus intenta mejorar la homogeneidad fenotípica de cara a los estudios genéticos o terapéuticos. Ahora bien, no existe una base patológica y existen numerosos inconvenientes para los estudios de investigación epidemiológicos, genéticos y terapéuticos. En ausencia de biomarcadores objetivos claros, la distinción entre TE y TE plus únicamente por distinción clínica es muy compleja. Debemos ser cautos a la hora de utilizar nuevos términos que no están todavía soportados por una base científica.(AU)

Introduction: The existence of non-motor symptoms in essential tremor (ET) and the appearance of a new condition, ET-plus, are two controversial issues. Aims: To offer a review of the current status of these two topics. Development: We performed an analysis of the studies conducted on non-motor symptoms in ET and of the articles for and against the use of the term ET-plus. Conclusions: Non-motor symptoms have gained increased recognition as a feature accompanying ET. Several studies have documented its presence compared to matched controls. It is not clear, however, whether these non-motor symptoms would be part of the spectrum of ET symptoms (a primary phenomenon) or whether they would be symptoms that appear as a consequence of the physical or psychological disability produced by the clinical signs and symptoms of ET itself (a secondary phenomenon). For the time being, their evaluation and treatment are not included within the standard assessment of patients with ET. In view of the heterogeneous phenotype, the term ET-plus aims to improve phenotypic homogeneity for genetic or therapeutic studies. Yet, there is no pathological basis, and epidemiological, genetic and therapeutic research studies have numerous drawbacks. In the absence of clear objective biomarkers, distinguishing between ET and ET-plus by clinical distinction alone is very complex. We should be cautious about using new terms that are not yet backed by sound scientific evidence.(AU)

Radiocirugía estereotáctica con Gamma Knife como tratamiento del temblor esencial y parkinsoniano: experiencia a largo plazo / Gamma Knife stereotactic radiosurgery as a treatment for essential and parkinsonian tremor: long-term experience

Introducción: La radiocirugía estereotáctica con Gamma Knife® (GK), sobre el núcleo ventral intermedio-medial del tálamo (VIM), unilateral es una opción neuroquirúrgica mínimamente invasiva para el temblor refractario. Se describe la experiencia de talamotomía con GK (TGK) en pacientes con temblor esencial (TE) y enfermedad de Parkinson (EP) de predominio tremórico de una unidad especializada en cirugía estereotáctica.MétodosSe revisan los pacientes tratados con TGK desde enero de 2014 hasta febrero de 2018. Se analizan variables clínico-demográficas, indicación, dosis empleada, eficacia (mediante subescalas de Fahn-Tolosa-Marin (FTM) y MDS-UPDRS motora) y efectos adversos (EA).ResultadosSe registraron 13 pacientes, seis con diagnóstico de EP de predominio tremórico, cuetro con TE refractario y tres casos de TE + EP. La mediana de edad fue 78 años (62-83), con siete pacientes > 75 años. Cuatro pacientes anticoagulados y dos con antecedentes de ictus previo. La dosis máxima de radiación aplicada fue 130 Gy. La media de seguimiento fue 30,0 (14,5) meses. Se observó una mejoría significativa del temblor en las subescalas de FTM del 63,6% a 12 meses y del 63,5% al final del seguimiento y en items de temblor de MDS-UPDRS del 71,3% a 12 meses y del 60,3% al final del seguimiento. Once pacientes refirieron mejoría significativa en su calidad de vida. Tres pacientes refirieron EA leves y transitorios.ConclusionesSe presenta la mayor serie de pacientes con TE y parkinsoniano tratados con TGK en España con seguimiento a largo plazo. La TGK puede ser un tratamiento seguro y con eficacia mantenida en temblor refractario, incluso en edad avanzada o en tratamiento anticoagulante. (AU)

Introduction: Unilateral Gamma Knife™ stereotactic radiosurgery on the ventral-intermediate nucleus of the thalamus is a minimally invasive neurosurgical option for refractory tremor. We describe the experience of Gamma Knife™ thalamotomy (GKT) in patients with essential tremor (ET) and tremor-dominant Parkinson's disease (PD) at our specialised stereotactic neurosurgery unit.MethodsWe reviewed the cases of patients treated with GKT between January 2014 and February 2018 with a minimum of 12 months’ follow-up. We analysed clinical and demographic variables, indication, radiation dose, effectiveness (based on subscales of the Fahn-Tolosa-Marin [FTM] scale and the Movement Disorders Society-Unified Parkinson's Disease Rating Scale [MDS-UPDRS] motor score), and adverse events.ResultsThirteen patients were registered, 6 with a diagnosis of tremor-dominant PD, four with refractory ET, and three with ET and PD. Median age was 78 years (range, 62-83), with seven patients aged over 75 years. Four patients were receiving anticoagulants and two had history of stroke. The maximum radiation dose administered was 130 Gy. Mean (standard deviation) follow-up duration was 30.0 (14.5) months. Significant tremor improvement was observed on the FTM subscales: 63.6% at 12 months and 63.5% at the end of follow-up; MDS-UPDRS tremor items showed improvements of 71.3% at 12 months and 60.3% at the end of follow up. Eleven patients reported significant improvements in quality of life, and 3 reported mild and transient adverse effects.ConclusionsThis is the largest series of patients with essential and parkinsonian tremor treated with GKT and followed up in the long term in Spain. GKT can be safe and effective in the long term in patients with refractory tremor, including in elderly patients and those receiving anticoagulants. (AU)

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.

Risk of Exposure to Coccidioides spp. in the Temblor Special Recreation Management Area (SRMA), Kern County, CA.

The Temblor Mountain Special Recreation Area (SRMA) on the western flank of the San Joaquin Valley, CA, is located in the endemic area of Coccidioides, a fungal pathogen responsible for the increasing incidence of coccidioidomycosis (Valley fever). Recreationists in the SRMA, such as off-highway vehicle (OHV) drivers and mountain bikers who disturb the soils, are at risk of being exposed to airborne arthroconidia (asexual spores) of the pathogen. To reduce the risk of pathogen exposure for visitors, the Bureau of Land Management (BLM) plans to limit recreational activities to areas with a reduced pathogen presence. They envision an official OHV park in the future, by also restricting access to areas with ongoing restoration efforts and by limiting soil erosion in sensitive areas. To investigate which soils in the Temblor SRMA are most likely to support the growth of Coccidioides spp., soil samples were collected over a 3-year period from dominant soil types in a northern and a southern sampling area and analyzed for the pathogen using a culture-independent PCR-based method. In addition, soil pH and electrical conductivity were determined. The results of this study revealed slight genetic variance in the Coccidioides sequences obtained from the soils of the Temblor SRMA. An analysis of variance (ANOVA) could not confirm differences in soil pH and electrical conductivity (EC) between the different soil types investigated and between sites where the pathogen was detected compared to sites where it could not be found. However, the year of sampling appeared to have an influence on observed soil pH and EC, and the presence of the pathogen. Of all dominant soil types investigated, those belonging to the Littlesignal-Cochora association were the least likely to contain the pathogen, whereas soils of the Beam-Panoza-Hillbrick association appeared more supportive. In addition to pointing out OHV areas with lower pathogen exposure risk in the Temblor SRMA, recommendations were made to educate visitors and BLM workers about the risk of contracting Valley fever.

Gamma Knife® stereotactic radiosurgery as a treatment for essential and parkinsonian tremor: long-term experience.

INTRODUCTION: Unilateral Gamma Knife™ stereotactic radiosurgery on the ventral-intermediate nucleus of the thalamus is a minimally invasive neurosurgical option for refractory tremor. We describe the experience of Gamma Knife™ thalamotomy (GKT) in patients with essential tremor (ET) and tremor-dominant Parkinson's disease (PD) at our specialised stereotactic neurosurgery unit. METHODS: We reviewed the cases of patients treated with GKT between January 2014 and February 2018 with a minimum of 12 months' follow-up. We analysed clinical and demographic variables, indication, radiation dose, effectiveness (based on subscales of the Fahn-Tolosa-Marin [FTM] scale and the Movement Disorders Society-Unified Parkinson's Disease Rating Scale [MDS-UPDRS] motor score), and adverse events. RESULTS: Thirteen patients were registered, 6 with a diagnosis of tremor-dominant PD, four with refractory ET, and three with ET and PD. Median age was 78 years (range, 62-83), with seven patients aged over 75 years. Four patients were receiving anticoagulants and two had history of stroke. The maximum radiation dose administered was 130 Gy. Mean (standard deviation) follow-up duration was 30.0 (14.5) months. Significant tremor improvement was observed on the FTM subscales: 63.6% at 12 months and 63.5% at the end of follow-up; MDS-UPDRS tremor items showed improvements of 71.3% at 12 months and 60.3% at the end of follow up. Eleven patients reported significant improvements in quality of life, and 3 reported mild and transient adverse effects. CONCLUSIONS: This is the largest series of patients with essential and parkinsonian tremor treated with GKT and followed up in the long term in Spain. GKT can be safe and effective in the long term in patients with refractory tremor, including in elderly patients and those receiving anticoagulants.

El papel de la tractografía en la localización del núcleo ventralis intermedius del tálamo y el haz dentatorrubrotalámico en el tratamiento del temblor / The role of tractography in the localization of the Vim nucleus of the thalamus and the dentato-rubro-thalamic tract for the treatment of tremor

Introducción: La diana habitual empleada para el tratamiento quirúrgico del temblor es el núcleo ventralis intermedius (Vim) del tálamo. Su localización es compleja, ya que no se puede visualizar con métodos de imagen convencionales, por lo que para el procedimiento quirúrgico se toman clásicamente medidas indirectas y se correlacionan con la clínica y neurofisiología intraoperatorias. Sin embargo, procedimientos ablativos actuales como la talamotomía por gamma-knife o por ultrasonidos (MRgFUS) hacen que sea preciso buscar otras alternativas para su localización. El objetivo del presente trabajo es comparar la localización indirecta del Vim mediante técnica esterotáctica con la realizada directamente por tractografía para el tratamiento del temblor.DiscusiónLa definición citoarquitectónica más empleada del Vim es la del atlas de Schaltenbrand-Wahren. Existe un límite claro entre el tálamo motor y el sensitivo; las neuronas del Vim responden a movimientos pasivos articulares y su actividad es sincrónica con el temblor periférico. Las coordenadas estereotácticas del Vim más frecuentemente utilizadas se basan en mediciones indirectas respecto a la línea intercomisural y el III ventrículo, las cuales dependen de variaciones interindividuales. Estudios recientes han propuesto el haz dentatorrubrotalámico como una diana óptima para el control del temblor, postulando que se asocia a una mejoría clínica; sin embargo, esto no ha sido corroborado por otros autores.ConclusionesLa visualización de la vía cerebelorrubrotalámica por tractografía puede ayudar a definir la localización del Vim. Esta técnica tiene limitaciones inherentes y sería necesaria una estandarización del método para lograr resultados más precisos. La posible mayor utilidad de la diana por tractografía, directa, sobre la indirecta queda por demostrar a largo plazo en pacientes con temblor. (AU)

Introduction: The ventralis intermedius (Vim) nucleus of the thalamus is the usual surgical target for tremor. However, locating the structure may be difficult as it is not visible with conventional imaging methods; therefore, surgical procedures typically use indirect calculations correlated with clinical and intraoperative neurophysiological findings. Current ablative surgical procedures such as Gamma-Knife thalamotomy and magnetic resonance-guided focused ultrasound require new alternatives for locating the Vim nucleus. In this review, we compare Vim nucleus location for the treatment of tremor using stereotactic procedures versus direct location by means of tractography.DiscussionThe most widely used cytoarchitectonic definition of the Vim nucleus is that established by Schaltenbrand and Wahren. There is a well-defined limit between the motor and the sensory thalamus; Vim neurons respond to passive joint movements and are synchronous with peripheral tremor. The most frequently used stereotactic coordinates for the Vim nucleus are based on indirect calculations referencing the mid-commissural line and third ventricle, which vary between patients. Recent studies suggest that the dentato-rubro-thalamic tract is an optimal target for controlling tremor, citing a clinical improvement; however, this has not yet been corroborated.ConclusionsVisualisation of the cerebello-rubro-thalamic pathway by tractography may help in locating the Vim nucleus. The technique has several limitations, and the method requires standardisation to obtain more precise results. The utility of direct targeting by tractography over indirect targeting for patients with tremor remains to be demonstrated in the long-term. (AU)

The role of tractography in the localization of the Vim nucleus of the thalamus and the dentato-rubro-thalamic tract for the treatment of tremor. / El papel de la tractografía en la localización del núcleo ventralis intermedius del tálamo y el haz dentatorrubrotalámico en el tratamiento del temblor.

INTRODUCTION: The ventralis intermedius (Vim) nucleus of the thalamus is the usual surgical target for tremor. However, locating the structure may be difficult as it is not visible with conventional imaging methods; therefore, surgical procedures typically use indirect calculations correlated with clinical and intraoperative neurophysiological findings. Current ablative surgical procedures such as Gamma-Knife thalamotomy and magnetic resonance-guided focused ultrasound require new alternatives for locating the Vim nucleus. In this review, we compare Vim nucleus location for the treatment of tremor using stereotactic procedures versus direct location by means of tractography. DISCUSSION: The most widely used cytoarchitectonic definition of the Vim nucleus is that established by Schaltenbrand and Wahren. There is a well-defined limit between the motor and the sensory thalamus; Vim neurons respond to passive joint movements and are synchronous with peripheral tremor. The most frequently used stereotactic coordinates for the Vim nucleus are based on indirect calculations referencing the mid-commissural line and third ventricle, which vary between patients. Recent studies suggest that the dentato-rubro-thalamic tract is an optimal target for controlling tremor, citing a clinical improvement; however, this has not yet been corroborated. CONCLUSIONS: Visualisation of the cerebello-rubro-thalamic pathway by tractography may help in locating the Vim nucleus. The technique has several limitations, and the method requires standardisation to obtain more precise results. The utility of direct targeting by tractography over indirect targeting for patients with tremor remains to be demonstrated in the long-term.

The role of tractography in the localisation of the Vim nucleus of the thalamus and the dentatorubrothalamic tract for the treatment of tremor.

INTRODUCTION: The ventralis intermedius (VIM) nucleus of the thalamus is the usual surgical target for tremor. However, locating the structure may be difficult as it is not visible with conventional imaging methods; therefore, surgical procedures typically use indirect calculations correlated with clinical and intraoperative neurophysiological findings. Current ablative surgical procedures such as Gamma-Knife thalamotomy and magnetic resonance-guided focused ultrasound require new alternatives for locating the VIM nucleus. In this review, we compare VIM nucleus location for the treatment of tremor using stereotactic procedures versus direct location by means of tractography. DISCUSSION: The most widely used cytoarchitectonic definition of the VIM nucleus is that established by Schaltenbrand and Wahren. There is a well-defined limit between the motor and the sensory thalamus; VIM neurons respond to passive joint movements and are synchronous with peripheral tremor. The most frequently used stereotactic coordinates for the VIM nucleus are based on indirect calculations referencing the mid-commissural line and third ventricle, which vary between patients. Recent studies suggest that the dentato-rubro-thalamic tract is an optimal target for controlling tremor, citing a clinical improvement; however, this has not yet been corroborated. CONCLUSIONS: Visualisation of the cerebello-rubro-thalamic pathway by tractography may help in locating the VIM nucleus. The technique has several limitations, and the method requires standardisation to obtain more precise results. The utility of direct targeting by tractography over indirect targeting for patients with tremor remains to be demonstrated in the long-term.

Interacción con pantalla táctil de smartphone en pacientes con temblor esencial y sujetos sanos / Interaction with touchscreen smartphones in patients with essential tremor and healthy individuals

Introducción: El uso de smartphones en investigación biomédica está creciendo rápidamente en diferentes entornos clínicos. Realizamos un estudio piloto para obtener información sobre el uso de smartphones en pacientes con temblor esencial (TE) y en sujetos sanos, con el objetivo de evaluar si la realización de diversas tareas con las pantallas táctiles difiere entre grupos y describir factores de esta interacción.MétodoSe administró un cuestionario sobre el uso de smartphones a 31 pacientes con TE y 40 sujetos control apareados por edad y sexo. Acto seguido, los participantes interactuaron con una aplicación Android en desarrollo y realizaron 4 test basados en diferentes modos de interacción típicos con pantallas táctiles, con 5 repeticiones de cada tarea.ResultadoLos tipos de uso de smartphones así como su interacción no fueron significativamente diferentes entre pacientes y controles. La edad y el número de usos del smartphone son factores clave en esta interacción con pantallas táctiles.ConclusiónEstas observaciones apoyan el uso de las pantallas táctiles de los smartphones para investigación en TE, pero se requieren más estudios. (AU)

Introduction: Smartphones use in biomedical research is becoming more prevalent in different clinical settings. We performed a pilot study to obtain information on smartphone use by patients with essential tremor (ET) and healthy controls, with a view to determining whether performance of touchscreen tasks is different between these groups and describing touchscreen interaction factors.MethodA total of 31 patients with ET and 40 sex- and age-matched healthy controls completed a descriptive questionnaire about the use of smartphones. Participants subsequently interacted with an under-development Android application, and performed 4 tests evaluating typical touchscreen interaction gestures; each test was performed 5 times.ResultThe type of smartphone use and touchscreen interaction were not significantly different between patients and controls. Age and frequency of smartphone use are key factors in touchscreen interaction.ConclusionOur results support the use of smartphone touchscreens for research into ET, although further studies are required. (AU)

Déficit de vitamina B12 en grupos vulnerables con alimentación omnívora / Vitamin B12 deficiency in vulnerable groups with omnivorous diet

Introducción: la vitamina B12 cumple un rol esencial en el crecimiento y el neurodesarrollo. El déficit de vitamina B12 (B12) es un problema de salud pública en Argentina, con una alta prevalencia en población de riesgo, como las embarazas y niños en situación social vulnerable, aunque mantengan una dieta omnívora. Objetivos: actualizar la información disponible sobre la deficiencia de B12 en la población vulnerable con el fin de resaltar y actualizar la importancia del tema para realizar un diagnóstico temprano, un tratamiento oportuno y prevenir las complicaciones irreversibles. Resultados: es importante que el pediatra conozca las diferentes formas de presentación del déficit de B12 y principalmente que se considere como diagnóstico diferencial ante niños con alteraciones neurológicas, aún en ausencia de anemia, para lograr intervenciones tempranas que disminuyan el impacto de la enfermedad. Varios investigadores concluyeron que un marcador aislado puede conducir a diagnósticos erróneos, por lo cual actualmente lo más recomendado es usar al menos dos. De los tratamientos evaluados, la mayoría acuerda en realizar entre siete a 10 días de tratamiento, con 1 mg de B12, ya sea intramuscular o vía oral, seguido de tres a 11 semanas de tratamiento semanal. Conclusiones: es de vital importancia relevar datos actualizados de prevalencia de déficit en el país, como así también implementar intervenciones terapéuticas y de políticas públicas preventivas

Introduction: vitamin B12 plays an essential role in growth and neurodevelopment. Vitamin B12 deficiency is a public health problem in Argentina, with a high prevalence in a highrisk population, such as pregnant women and children with a vulnerable social situation, although their omnivorous diet. Objectives: to update the information available on vitamin B12 deficiency in vulnerable populations, in order to highlight the importance of the subject, to achieve an early diagnosis and timely treatment and thus prevent irreversible complications. Results: it is important that the pediatrician knows the different types of vitamin B12 deficiency presentation and to consider it as a differential diagnosis in children with neurological symptoms, even in the absence of anemia, to achieve early interventions and diminish the burden of disease. Many researchers have concluded that an isolated marker can lead to misdiagnoses, so it is currently recommended to use at least two. Most of the treatments evaluated, agree on the administration of 1 mg of B12, for 7 to 10 days, either intramuscular or orally, followed by 3 to 11 weeks of a weekly dose. Conclusions: it is important to update data on the prevalence of B12 deficiency in our country, as well as the implementation of therapeutic interventions and preventive public policies

Interaction with touchscreen smartphones in patients with essential tremor and healthy individuals.

INTRODUCTION: Smartphone use in biomedical research is becoming more prevalent in different clinical settings. We performed a pilot study to obtain information on smartphone use by patients with essential tremor (ET) and healthy controls, with a view to determining whether performance of touchscreen tasks is different between these groups and describing touchscreen interaction factors. METHOD: A total of 31 patients with ET and 40 sex- and age-matched healthy controls completed a descriptive questionnaire about the use of smartphones. Participants subsequently interacted with an under-development Android application, and performed 4 tests evaluating typical touchscreen interaction gestures; each test was performed 5 times. RESULT: The type of smartphone use and touchscreen interaction were not significantly different between patients and controls. Age and frequency of smartphone use are key factors in touchscreen interaction. CONCLUSION: Our results support the use of smartphone touchscreens for research into ET, although further studies are required.

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.

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.

Gamma Knife® stereotactic radiosurgery as a treatment for essential and parkinsonian tremor: long-term experience. / Radiocirugía estereotáctica con Gamma Knife® como tratamiento del temblor esencial y parkinsoniano: experiencia a largo plazo.

INTRODUCTION: Unilateral Gamma Knife™ stereotactic radiosurgery on the ventral-intermediate nucleus of the thalamus is a minimally invasive neurosurgical option for refractory tremor. We describe the experience of Gamma Knife™ thalamotomy (GKT) in patients with essential tremor (ET) and tremor-dominant Parkinson's disease (PD) at our specialised stereotactic neurosurgery unit. METHODS: We reviewed the cases of patients treated with GKT between January 2014 and February 2018 with a minimum of 12 months' follow-up. We analysed clinical and demographic variables, indication, radiation dose, effectiveness (based on subscales of the Fahn-Tolosa-Marin [FTM] scale and the Movement Disorders Society-Unified Parkinson's Disease Rating Scale [MDS-UPDRS] motor score), and adverse events. RESULTS: Thirteen patients were registered, 6 with a diagnosis of tremor-dominant PD, four with refractory ET, and three with ET and PD. Median age was 78 years (range, 62-83), with seven patients aged over 75 years. Four patients were receiving anticoagulants and two had history of stroke. The maximum radiation dose administered was 130 Gy. Mean (standard deviation) follow-up duration was 30.0 (14.5) months. Significant tremor improvement was observed on the FTM subscales: 63.6% at 12 months and 63.5% at the end of follow-up; MDS-UPDRS tremor items showed improvements of 71.3% at 12 months and 60.3% at the end of follow up. Eleven patients reported significant improvements in quality of life, and 3 reported mild and transient adverse effects. CONCLUSIONS: This is the largest series of patients with essential and parkinsonian tremor treated with GKT and followed up in the long term in Spain. GKT can be safe and effective in the long term in patients with refractory tremor, including in elderly patients and those receiving anticoagulants.

Efectividad de la ketamina y el sulfato de magnesio en pacientes con temblor posanestesia subaracnoidea / Effectiveness of ketamine and magnesium sulfate in patients with shaking after subarachnoid anesthesia

Introducción: El temblor es frecuente. Además de agravar el dolor, aumenta la demanda metabólica y el consumo de oxígeno; varios fármacos son utilizados para eliminarlo. Objetivo: Determinar la efectividad de la ketamina y el sulfato de magnesio en pacientes con temblor posanestesia subaracnoidea. Métodos: Se realizó una investigación cuasi-experimental de 394 pacientes, quienes se encontraban bajo anestesia espinal de forma electiva, atendidos en el Hospital General Docente Dr. Juan Bruno Zayas Alfonso de Santiago de Cuba, desde septiembre de 2016 hasta igual periodo de 2018. Se dividieron en 2 grupos aleatorios con 197 integrantes cada uno: A (ketamina 0,4 mg/kg) y B (sulfato de magnesio 50 mg/kg), a los cuales se le suministraron los medicamentos una vez iniciado el temblor. Resultados: En ambos grupos predominaron los pacientes de 45-64 años de edad. Hubo homogeneidad entre hombres y mujeres, sin significación estadística (p= 0,5378). La mayoría de los afectados se encontraban en el grupo de riesgo anestésico II (88,1 %). En los 2 grupos primó del grado III del temblor antes de la terapia, solo 3,5 % del grupo B a los 30 minutos mantuvo igual condición. En los primeros 10 minutos de suministrar el sulfato de magnesio despareció el temblor en la mayoría de los pacientes (74,5 %). Dicho fármaco resultó efectivo en 83,8 % de los afectados y en aquellos que recibieron ketamina fue de 42,1 %, ambos sin efectos secundarios. Conclusiones: La incidencia del temblor fue alta. La ketamina y el sulfato de magnesio fueron efectivos al permitir la desaparición del temblor en un corto periodo de tiempo, pero el segundo fármaco superó al primero en magnitud considerable.

Introduction: The shaking is frequent. Besides increasing the pain, it increases the metabolic demand and the oxygen consumption; several drugs are used to eliminate it. Objective: To determine the effectiveness of ketamine and magnesium sulfate in patients with shaking after subarachnoid anesthesia. Methods: A quasi-experimental investigation of 394 patients who received spinal anesthesia in an elective way, assisted at Dr. Juan Bruno Zayas Alfonso Teaching General Hospital was carried out in Santiago de Cuba, from September, 2016 to the same period in 2018. They were divided in 2 random groups with 197 members each one: A (ketamine 0.4 mg/kg) and B (magnesium sulfate 50 mg/kg), to whom the medications were given once shaking began. Results: In both groups the 45-64 years patients prevailed. There was homogeneity between men and women, without statistical significance (p = 0.5378). Most of those affected were in the group of anesthetic risk II (88.1 %). In the 2 groups the degree III of shaking before therapy prevailed, just 3.5 % in group B maintained the same condition at 30 minutes. In the first 10 minutes of giving the magnesium sulfate shaking disappeared in most of the patients (74.5 %). This drug was effective in 83.8 % of those affected and in those that received ketamine it was of 42.1 %, both without side effects. Conclusions: The incidence of shaking was high. The ketamine and magnesium sulfate were effective when allowing the disappearance of shaking in a short period of time, but the second drug overcame the first one in a considerable magnitude.

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.

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.

Temblor Mentoniano: Reporte De Un Caso Aislado / Chin Tremor: Report Of An Isolated Case

Resumen El temblor mentoniano o genioespasmo es un desorden del movimiento de carácter involuntario, rítmico, hereditario autosómico dominante, exacerbado por situaciones de estrés o emocionales. Registrado por primera vez en 1894, en Italia. Se reporta una niña de 4 años de edad con temblor mentoniano desde el año de edad, sin precedente de herencia, con respuesta exitosa al uso de Toxina Botulínica.

Abstract The chin tremor or geniospasm is an involuntary, rhythmic, autosomal dominant hereditary movement disorder, triggered by stress or emotional situations. Registered for the first time in 1894, in Italy. We report a 4-year-old girl with mental tremor from one year of age, with no previous inheritance, with a successful response to the use of Botulinum Toxin.