Treatment of Alzheimer's Disease in the New Era of Monoclonal Antibodies Against Cerebral Amyloid-ß: Pharmacological Prescription and Knowledge in Argentina.

Background: Alzheimer's disease (AD) presents a significant global health challenge. Understanding the current and upcoming treatment landscape is crucial for effectively managing patients. Objective: The aim of this study was to assess the pattern of prescription and knowledge about new therapies by physicians who treat AD patients in Argentina. Methods: A cross- sectional and analytic study was conducted. A survey was elaborated about pharmacological treatment in AD. Statistical analysis of answers of specialists in cognitive disorders (SCD), non-specialists in cognitive disorders (NSCD), recommended treatment, non-recommended treatment (NRT), and off-label treatment was performed. Results: 155 physicians answered the survey. A 19.35%prescribed at least one NRT for dementia. 78.06%prescribed at least an off-label treatment or an NRT for mild cognitive impairment (MCI). 31%would prescribe monoclonal antibodies (MABs) against cerebral amyloid-ß (Aß) to AD patients, and 42.6%responded that they were not aware of any adverse effect of these. Quetiapine was the most frequent treatment for psychotic symptoms (88.4%) and escitalopram (32.3%) for apathy. A 70%of potential prescribers of MABs (n = 100) would request biomarkers of cerebral Aß in the initial assessment. There were significant differences between the responses of SCD and NSCD regarding the prescription of MABs (52.17%versus 23.08, respectively) and knowledge about adverse events (76.09%versus 38.46%, respectively). Conclusions: A considerable percentage of physicians indicated NRT and off-label medication in MCI and dementia. In Argentina, there are many physicians who would indicate a MABs for AD, but many are not completely aware of its safety profile.

Triphasic waves and brain atrophy in patients with acute encephalopathy.

Introduction: Triphasic waves (TW) constitute an electroencephalographic pattern associated with certain kinds of encephalopathy. Brain atrophy may be a predisposing factor linked with TW. Objective: To compare the degree of brain atrophy and white matter disease between patients with acute encephalopathy with and without TW. Methods: A retrospective observational study including adult patients with encephalopathy, with and without TW, hospitalized between 2016 and 2017. The degree of brain atrophy and white matter lesion were defined using the Global Cortical Atrophy and Age Related White Matter Changes (ARWMC) scales, respectively. Scores were compared between groups. Mortality rates were registered. Results: Sixteen patients with TW were identified matched by age and sex with 30 patients without TW. The mean age was 80 years in the TW group. Women represented 87.5%. Multifactorial encephalopathy was the most frequent diagnosis followed by metabolic encephalopathy. Patients with TW had more brain atrophy (10.43 vs 6.9, p= 0.03). Mean ARWMC was 9.43±6.5 and 8.5 ±7.89 in patients with and without TW respectively (p= 0.5). Mortality rate was higher in the TW group (31.25 vs 6.66% p= 0.02). Conclusions: Patients with acute encephalopathy and TW had higher degree of cerebral atrophy. It is possible that this structural alteration predisposes to the appearance of TW. There was no significant difference in white matter lesion degree. The mortality of the TW group was high, so future studies are necessary to determine their prognostic value.

Introducción: Las ondas trifásicas (OT) constituyen un patrón electroencefalográfico asociado con diversas encefalopatías. La atrofia cerebral podría predisponer a su aparición. Objetivo: Comparar el grado de atrofia cerebral y de lesión de sustancia blanca en pacientes con encefalopatía aguda con y sin OT. Métodos: Estudio observacional retrospectivo, incluyó pacientes adultos con encefalopatía aguda con y sin OT internados entre 2016 y 2019. El grado de atrofia cerebral y de lesión de sustancia blanca se definieron según las escalas Global Cortical Atrophy y Age Related White Matter Changes (ARWMC), respectivamente. Se compararon los puntajes entre grupos. Se registró la mortalidad. Resultados: Se identificaron 16 pacientes con OT y 30 sin OT pareados según edad y sexo. La edad promedio del grupo con OT fue 80 años. El 87.5% fueron mujeres. La encefalopatía multifactorial fue el diagnóstico más frecuente seguido de la encefalopatía metabólica. El grado de atrofia fue mayor en pacientes con OT (10.43 vs 6.9, p= 0.03). El puntaje ARWMC fue 9.43 ±6.5 y 8.5 ±7.89 en pacientes con y sin OT respectivamente (p= 0.5). La mortalidad fue mayor en el grupo con OT (31.25 vs 6.66% p= 0.02). Conclusiones: Pacientes con encefalopatía aguda y OT tuvieron mayor grado de atrofia cerebral. Dicha alteración estructural podría relacionarse con la aparición de OT. No hubo diferencias significativas en el grado de lesión de sustancia blanca. La mortalidad del grupo con OT fue elevada. Son necesarios estudios para determinar su valor pronóstico.

Recomendaciones en el abordaje del hematoma intracerebral espontáneo durante la internación / Recommendations for the management of spontaneous intracerebral hemorrhage during hospitalization

Resumen El accidente cerebrovascular (ACV) constituye la principal causa de discapacidad de origen neuro- lógico en los adultos mayores a 40 años y la cuarta causa de muerte en Argentina. En los últimos diez años las publicaciones indexadas relacionadas al tratamiento del ACV isquémico fueron más numerosas que las de ACV hemorrágico. El objetivo de este material es proporcionar recomendaciones locales y actualiza- das del abordaje de pacientes con hematoma intraparenquimatoso espontáneo durante la internación. Para la redacción de este manuscrito se convocó a especialistas en esta enfermedad que conformaron grupos de trabajo. Se plantearon 10 tópicos centrales expresados como epidemiologia, atención inicial, imágenes, tratamiento de la presión arterial, reversión de antitrombóticos, indicación de cirugía, profilaxis anticonvulsivante, pronóstico, prevención de complicaciones y reinicio de antitrombóticos. De cada tópico se plantearon mediante preguntas PICO los interrogantes más frecuentes de la práctica diaria. Luego de una revisión sistemática de la literatura, se generaron recomendaciones evaluadas mediante sistema GRADE y consensuadas entre autores y pacientes.

Abstract Stroke is the leading cause of neurological disability in people over 40 years of age and the fourth leading cause of death in Argentina. In the last ten years, the indexed publications related to the treatment of ischemic stroke were more numerous than those of hemorrhagic stroke. The objective of this material is to provide local and updated recommendations for the management of patients with spontaneous intracere- bral hemorrhage during hospitalization. For the writing of this manuscript, diferent specialists were convened to form working groups. Ten central topics expressed as epidemiology, initial care, imaging, blood pressure treatment, reversal of antithrombotics, indication for surgery, seizure prophylaxis, prognosis, prevention of complications and resumption of antithrombotics were raised. For each topic, the most frequent questions of daily practice were raised through PICO questions. After a systematic review of the literature, recommendations were generated, evaluated using the GRADE system and agreed between authors and patients.

[Recommendations For The Management Of Spontaneous Intracerebral Hemorrhage During Hospitalization]. / Recomendaciones en el Abordaje del Hematoma Intracerebral Espontáneo Durante la Internación.

Stroke is the leading cause of neurological disability in people over 40 years of age and the fourth leading cause of death in Argentina. In the last ten years, the indexed publications related to the treatment of ischemic stroke were more numerous than those of hemorrhagic stroke. The objective of this material is to provide local and updated recommendations for the management of patients with spontaneous intracerebral hemorrhage during hospitalization. For the writing of this manuscript, diferent specialists were convened to form working groups. Ten central topics expressed as epidemiology, initial care, imaging, blood pressure treatment, reversal of antithrombotics, indication for surgery, seizure prophylaxis, prognosis, prevention of complications and resumption of antithrombotics were raised. For each topic, the most frequent questions of daily practice were raised through PICO questions. After a systematic review of the literature, recommendations were generated, evaluated using the GRADE system and agreed between authors and patients.

El accidente cerebrovascular (ACV) constituye la principal causa de discapacidad de origen neurológico en los adultos mayores a 40 años y la cuarta causa de muerte en Argentina. En los últimos diez años las publicaciones indexadas relacionadas al tratamiento del ACV isquémico fueron más numerosas que las de ACV hemorrágico. El objetivo de este material es proporcionar recomendaciones locales y actualizadas del abordaje de pacientes con hematoma intraparenquimatoso espontáneo durante la internación. Para la redacción de este manuscrito se convocó a especialistas en esta enfermedad que conformaron grupos de trabajo. Se plantearon 10 tópicos centrales expresados como epidemiologia, atención inicial, imágenes, tratamiento de la presión arterial, reversión de antitrombóticos, indicación de cirugía, profilaxis anticonvulsivante, pronóstico, prevención de complicaciones y reinicio de antitrombóticos. De cada tópico se plantearon mediante preguntas PICO los interrogantes más frecuentes de la práctica diaria. Luego de una revisión sistemática de la literatura, se generaron recomendaciones evaluadas mediante sistema GRADE y consensuadas entre autores y pacientes.

Triphasic waves and brain atrophy in patients with acute encephalopathy / Ondas trifásicas y atrofia cerebral en pacientes con encefalopatía aguda

Abstract Introduction: Triphasic waves (TW) constitute an electroencephalographic pattern associated with certain kinds of encephalopathy. Brain atrophy may be a predisposing factor linked with TW. Objective: To compare the degree of brain atrophy and white matter disease between patients with acute encephalopathy with and without TW. Methods: A retrospective observational study including adult patients with encephalopathy, with and without TW, hospitalized between 2016 and 2017. The degree of brain atrophy and white matter lesion were defined using the Global Cortical Atrophy and Age Related White Matter Changes (ARWMC) scales, respectively. Scores were compared between groups. Mortality rates were registered. Results: Sixteen patients with TW were identified matched by age and sex with 30 patients without TW. The mean age was 80 years in the TW group. Women represented 87.5%. Multifactorial encephalopathy was the most frequent diagnosis followed by metabolic encephalopathy. Patients with TW had more brain atrophy (10.43 vs 6.9, p= 0.03). Mean ARWMC was 9.43±6.5 and 8.5 ±7.89 in patients with and without TW respectively (p= 0.5). Mortality rate was higher in the TW group (31.25 vs 6.66% p= 0.02). Conclusions: Patients with acute encephalopathy and TW had higher degree of cerebral atrophy. It is possible that this structural alteration predisposes to the appearance of TW. There was no significant difference in white matter lesion degree. The mortality of the TW group was high, so future studies are necessary to determine their prognostic value.

Resumen Introducción: Las ondas trifásicas (OT) constituyen un patrón electroencefalográfico asociado con diversas encefalopatías. La atrofia cerebral podría predisponer a su aparición. Objetivo: Comparar el grado de atrofia cerebral y de lesión de sustancia blanca en pacientes con encefalopatía aguda con y sin OT. Métodos: Estudio observacional retrospectivo, incluyó pacientes adultos con encefalopatía aguda con y sin OT internados entre 2016 y 2019. El grado de atrofia cerebral y de lesión de sustancia blanca se definieron según las escalas Global Cortical Atrophy y Age Related White Matter Changes (ARWMC), respectivamente. Se compararon los puntajes entre grupos. Se registró la mortalidad. Resultados: Se identificaron 16 pacientes con OT y 30 sin OT pareados según edad y sexo. La edad promedio del grupo con OT fue 80 años. El 87.5% fueron mujeres. La encefalopatía multifactorial fue el diagnóstico más frecuente seguido de la encefalopatía metabólica. El grado de atrofia fue mayor en pacientes con OT (10.43 vs 6.9, p= 0.03). El puntaje ARWMC fue 9.43 ±6.5 y 8.5 ±7.89 en pacientes con y sin OT respectivamente (p= 0.5). La mortalidad fue mayor en el grupo con OT (31.25 vs 6.66% p= 0.02). Conclusiones: Pacientes con encefalopatía aguda y OT tuvieron mayor grado de atrofia cerebral. Dicha alteración estructural podría relacionarse con la aparición de OT. No hubo diferencias significativas en el grado de lesión de sustancia blanca. La mortalidad del grupo con OT fue elevada. Son necesarios estudios para determinar su valor pronóstico.

Discharges With Triphasic Morphology as Marker of the Risk of Death in Acute Encephalopathy.

Introduction. In clinical practice, it is difficult to define the prognosis of patients with acute encephalopathy; a syndrome characterized by cognitive dysfunction and altered sensorium. Discharges with triphasic morphology (DTM) are an electroencephalographic pattern that might be useful to establish the risk of death. The aim of this study was to define the prognostic value of DTM regarding mortality in patients with acute encephalopathy. Methods. We conducted an observational retrospective cohort study including patients with acute encephalopathy with and without DTM paired by age and gender in a 1:2 ratio. We calculated the odds ratio (OR) to determine the association between DTM and mortality. In addition, we calculated sensibility, specificity, and predictive values. Results. We included 72 patients, 24 with DTM and 48 without DTM. Mortality was higher in patients with DTM (41.6% vs 14.5%, P = .01). Factors associated with a higher risk of death were DTM (OR = 4.1, 95% confidence interval [CI] 1.3-13, P = .01) and sequential organ failure assessment score (OR = 1.3, 95% CI 1.04-1.67, P = .02). A higher Glasgow coma scale score was associated with a lower risk of death (OR = 0.65, 95% CI 0.51-0.83, P = .001). The sensibility and specificity of DTM were 59% and 75%, respectively. Positive and negative likelihood ratios were 2.36 and 0.55. Discussion. Our results revealed high mortality in patients with acute encephalopathy and DTM. This electroencephalographic pattern was associated with 4 times higher risk of death. However, its usefulness for predicting death was limited.

Cerebral venous thrombosis in Argentina: clinical presentation, predisposing factors, outcomes and literature review.

BACKGROUND: Cerebral venous thrombosis (CVT) is a rare medical condition that primarily affects young adults. The clinical spectrum is broad and its recognition remains a challenge for clinicians. Limited information is available on CVT in Argentina. Our goal was to report the results of the first National registry on CVT in Argentina and to compare clinical presentation, predisposing factors and outcomes with other international registries. MATERIAL AND METHOD: The Argentinian National Registry on CVT (ANR-CVT) is a multicenter retrospective cohort study comprising patients aged 18 and older with a diagnosis of CVT from January 2015 to January 2019. We evaluated demographics, predisposing factors, clinical presentation, and radiological characteristics (e.g. number of involved sinuses, venous infarction or hemorrhage on CT and MRI scans at admission), therapeutic interventions and functional outcomes at discharge and at 90 days. Our results were compared to a literature review of CVT registries. RESULTS: Overall, one hundred and sixty-two patients met the inclusion criteria. The mean age was 42 (±17) years; 72% were women. Seventy percent of patients were younger than 50 years. The most common presenting symptom was headache (82%). The transverse sinus was the most common site of thrombosis (70%) followed by the sigmoid sinus (46%). The main predisposing factor in women was contraceptive use (44%), 3% of the events occurred during pregnancy and 9% during the puerperium. Participants 50 years and older had a higher frequency on malignancy related (7.5% vs. 30%, p = 0.0001) and infections (2% vs. 11%, p = 0.001). The modified Rankin Scale (mRS) ≤2 at discharge was 81% and the rate of mortality at discharge was 4%. At 90 days, the mRS≤2 was 93%. When the ANR-CVT was compared with larger registries from Europe and Asia, the prevalence of cancer among patients with CVT was two to five-fold higher (15% vs. 7% and 3%, respectively; p = 0.002 and p < 0.001). Anticoagulation rates at discharge were also higher (94%) compared to registries from Asia (ASCVT - 68%) or Turkey (VENOST - 67%). CONCLUSION: Participants in the first ANR-CVT had a low mortality and disability at 90 days. Clinical and radiological characteristics were similar to CVT from other international registries with a higher prevalence of cancer. There was a high variability in treatment adherence to guidelines as reflected by anticoagulation rates (range 54.5%-100%) at discharge.

A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism.

INTRODUCTION: Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including extrapyramidal signs. In the last years, a pleiotropic effect of some PSEN1 variants has been reported in Parkinson's disease (PD). OBJECTIVE: to report a new PSEN1 mutation characterized by early-onset Parkinsonism (EOPD) without dementia or classical AD biomarkers phenotype. PATIENT AND METHODS: An Argentinian 46 years old woman was diagnosed with EOPD at 35 years old with no family history of neurodegenerative disorders. Her medical history included iron deficiency and anemia since childhood. A brain MRI showed moderate frontal atrophy. 18FDG-PET and PiB-PET as well as CSF biomarkers were inconclusive for AD. Two neuropsychological examinations were compatible with a mild non amnestic cognitive impairment. Whole blood DNA was extracted and whole exome sequencing and analysis was performed. RESULTS AND CONCLUSION: A heterozygous novel missense PSEN1 mutation (position 14:73637540, A > T, pArg41Ser) was identified as a likely causative mutation in this patient. To the best of our knowledge, this case is the first PSEN1 mutation with a l-dopa responsive Parkinsonism lacking distinctive classical AD biomarkers. This case opens a new window to explore the pathophysiological link among PSEN1 and EOPDs and contributes to increase the phenotypes of PSEN1 variants.

Huntington disease: Advances in the understanding of its mechanisms.

Huntington disease (HD) is a devastating monogenic autosomal dominant disorder. HD is caused by a CAG expansion in exon 1 of the gene coding for huntingtin, placed in the short arm of chromosome 4. Despite its well-defined genetic origin, the molecular and cellular mechanisms underlying the disease are unclear and complex. Here, we review some of the currently known functions of the wild-type huntingtin protein and discuss the deleterious effects that arise from the expansion of the CAG repeats, which are translated into an abnormally long polyglutamine tract. Also, we present a modern view on the molecular biology of HD as a representative of the group of polyglutamine diseases, with an emphasis on conformational changes of mutant huntingtin, disturbances in its cellular processing, and proteolytic stress in degenerating neurons. The main pathogenetic mechanisms of neurodegeneration in HD are discussed in detail, such as autophagy, impaired mitochondrial biogenesis, lysosomal dysfunction, organelle and protein transport, inflammation, oxidative stress, and transcription factor modulation. However, other unraveling mechanisms are still unknown. This practical and brief review summarizes some of the currently known functions of the wild-type huntingtin protein and the recent findings related to the mechanisms involved in HD pathogenesis.

[Consensus on acute ischemic stroke]. / Consenso sobre accidente cerebrovascular isquémico agudo.

Stroke is the third cause of death and the first cause of disability in Argentina. Ischemic events constitute 80% of cases. It requires the implementation of systematized protocols that allow reducing the time of care, morbidity and mortality. Specialists from nine medical societies related to the care of patients with cerebrovascular disease participated in the consensus. A separate agenda was agreed upon in chapters and for the writing of them, work groups were formed with members of different medical specialties. The level of recommendation was discussed and agreed upon for each topic based on the best clinical evidence available for each of them. An adaptation to the local scope of the recommendations was made when it was considered necessary.The American Heart Association system was used to draft the recommendations and their level of evidence. The correction and editing were done by five external reviewers, who did not participate in the writing and with extensive experience in vascular pathology. Once the preliminary document was finalized, a general meeting was held with all the members of the working groups and the reviewers to reach final recommendations. The consensus covers the management of ischemic stroke in the pre-hospital phase, initial evaluation in the emergency center, recanalization therapies (thrombolysis and/ or mechanical thrombectomy), decompressive craniectomy, neuroimaging and clinical care in the hospital.

El accidente cerebrovascular es la tercera causa de muerte y la primera de discapacidad en la Argentina. Los eventos isquémicos constituyen el 80% de los casos. Los accidentes vasculares cerebrales requieren la implementación de protocolos sistematizados que permitan reducir los tiempos en la atención, la morbilidad y mortalidad. En el consenso participaron especialistas de nueve sociedades médicas relacionadas con la atención de pacientes con enfermedad cerebrovascular. Se consensuó un temario separado en capítulos y para la redacción de los mismos se conformaron grupos de trabajo con miembros de diferentes especialidades médicas. Se discutió y acordó para cada tema el nivel de recomendación en base a la mejor evidencia clínica disponible para cada tópico. Se realizó una adaptación al ámbito local de las recomendaciones cuando se consideró necesario. El sistema de la American Heart Association se utilizó para redactar las recomendaciones y su grado de evidencia. La corrección y edición fue realizada por cinco revisores externos, que no participaron en la redacción y con amplia experiencia en enfermedad vascular. Finalizado el documento preliminar, se organizó una reunión general con todos los integrantes de los grupos de trabajo y los revisores para redactar las recomendaciones definitivas. El consenso abarca la atención del paciente con accidente cerebrovascular isquémico en la fase pre-hospitalaria, evaluación inicial en la central de emergencias, terapias de recanalización (trombolisis y/o trombectomía mecánica), craniectomía descompresiva, neuroimágenes y cuidados clínicos en la internación.

Consenso sobre accidente cerebrovascular isquémico agudo / Consensus on acute ischemic stroke

El accidente cerebrovascular es la tercera causa de muerte y la primera de discapacidad en la Argentina. Los eventos isquémicos constituyen el 80% de los casos. Los accidentes vasculares cerebrales requieren la implementación de protocolos sistematizados que permitan reducir los tiempos en la atención, la morbilidad y mortalidad. En el consenso participaron especialistas de nueve sociedades médicas relacionadas con la atención de pacientes con enfermedad cerebrovascular. Se consensuó un temario separado en capítulos y para la redacción de los mismos se conformaron grupos de trabajo con miembros de diferentes especialidades médicas. Se discutió y acordó para cada tema el nivel de recomendación en base a la mejor evidencia clínica disponible para cada tópico. Se realizó una adaptación al ámbito local de las recomendaciones cuando se consideró necesario. El sistema de la American Heart Association se utilizó para redactar las recomendaciones y su grado de evidencia. La corrección y edición fue realizada por cinco revisores externos, que no participaron en la redacción y con amplia experiencia en enfermedad vascular. Finalizado el documento preliminar, se organizó una reunión general con todos los integrantes de los grupos de trabajo y los revisores para redactar las recomendaciones definitivas. El consenso abarca la atención del paciente con accidente cerebrovascular isquémico en la fase pre-hospitalaria, evaluación inicial en la central de emergencias, terapias de recanalización (trombolisis y/o trombectomía mecánica), craniectomía descompresiva, neuroimágenes y cuidados clínicos en la internación.

Stroke is the third cause of death and the first cause of disability in Argentina. Ischemic events constitute 80% of cases. It requires the implementation of systematized protocols that allow reducing the time of care, morbidity and mortality. Specialists from nine medical societies related to the care of patients with cerebrovascular disease participated in the consensus. A separate agenda was agreed upon in chapters and for the writing of them, work groups were formed with members of different medical specialties. The level of recommendation was discussed and agreed upon for each topic based on the best clinical evidence available for each of them. An adaptation to the local scope of the recommendations was made when it was considered necessary.The American Heart Association system was used to draft the recommendations and their level of evidence. The correction and editing were done by five external reviewers, who did not participate in the writing and with extensive experience in vascular pathology. Once the preliminary document was finalized, a general meeting was held with all the members of the working groups and the reviewers to reach final recommendations. The consensus covers the management of ischemic stroke in the pre-hospital phase, initial evaluation in the emergency center, recanalization therapies (thrombolysis and/ or mechanical thrombectomy), decompressive craniectomy, neuroimaging and clinical care in the hospital.

Optical coherence tomography (OCT) study in Argentinean Huntington's disease patients.

BACKGROUND: Huntington's disease (HD) is a genetic, rare and progressive neurodegenerative disorder that causes motor and cognitive impairment in midlife patients. Although retinal damage was observed in animal HD models and in patients with other neurodegenerative diseases, we still need confirmation of impairment in HD patients. Optical coherence tomography (OCT) is a non-invasive methodology that analyses the retinal nerve fibre layers (RNFL) and could reflect processes of neurodegeneration. METHODS: A cross-sectional study with 14 HD patients who underwent a spectral domain OCT. Results were compared with a control group. Demographic data were also obtained. RESULTS: Temporal and superior RNFL sectors in HD showed a significant RNFL thinning compared with a control group. However, no differences were identified in mean total RNFL thickness between HD patients and controls. CONCLUSIONS: OCT is a rapid and non-invasive technique that can be investigated in larger cohorts of patients to assess its potential role as a biomarker in HD patients.

Sertraline-induced Hemichorea.

Background: Hemichorea-hemiballism is a syndrome secondary to different etiologies. Drug-induced hemichorea is a rare syndrome related to selective serotonin reuptake inhibitors. To the best of our knowledge, no previous cases of hemichorea associated with sertraline have been reported. Case Report: A 65-year-old female noticed hemichorea 1 week after initiation of sertraline. After extensive investigations, other causes of hemichorea were excluded. Hemichorea remitted after sertraline withdrawal. Discussion: In our patient, temporal association and the negative clinical assessment supported a diagnosis of likely drug-induced involuntary movement. We hypothesized that enhanced serotonergic transmission in the ventral tegmental area or nigrostriatum may be involved in sertraline-induced hemichorea.

Telemedicine Enables Broader Access to Movement Disorders Curricula for Medical Students.

Background: The impact of tele-education for movement disorders on medical students is unknown. The present study had three objectives. First, to create a tele-education program for medical students in regions with limited access to movement disorders curricula. Second, to analyze the feasibility, satisfaction, and improvement of medical knowledge. Third, to assess the main reasons of medical students for attending this course. Methods: In 2016, a program was piloted in a low-middle income (Cameroon) and a middle-high income (Argentina) country. Medical students were offered a free movement disorder tele-education program (four medical schools in Argentina, and 1 medical school in Cameroon). Six real-time videoconferences covering hyperkinetic and hypokinetic movement disorders were included. Evaluations included attendance, pre- and post-medical knowledge, and satisfaction questionnaires. Results: The study included 151 undergraduate medical students (79.4% from Argentina, 20.6% from Cameroon). Feasibility was acceptable with 100% and 85.7% of the videoconferences completed in Argentina and Cameroon, respectively. Attendance was higher in Argentina compared to Cameroon (75% vs. 33.1%). According to student reports, the topics and innovative educational environment were the main reasons for attendance. Both groups ranked satisfaction as moderate to high, and medical knowledge improved similarly in both countries. Discussion: Tele-education can improve movement disorders knowledge in medical schools in high-middle and low-middle income countries lacking access to other educational opportunities.

Juvenile Huntington disease in Argentina / Doença de Huntington juvenil na Argentina

ABSTRACT We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.

RESUMO Foram analisadas as características demográficas, clínicas e genéticas de doença de Huntington juvenil (JHD) e na freqüência em uma coorte argentino. A idade de início foi definida como a idade em que distúrbios comportamentais, cognitivos, psiquiátricos ou anormalidades motoras sugestivas de JHD foram relatada pela primeira vez. Os dados clínicos e genéticos foram semelhantes aos de outras séries internacionais, no entanto, neste contexto identificamos a maior freqüência de JHD relatados até agora (19,72%; 14/71). A idade de início de JHD é um desafio ainda em discussão. Nossos resultados reforçam a hipótese de que as manifestações clínicas, além do transtorno de movimento típico, pode antecipar a idade de início em muitos anos. As análises de coortes de JHD são obrigados a explorar frequências em populações com diferentes formações, para evitar uma subestimação deste fenótipo raro. Além disso, os dados de populações selecionadas podem abrir novos caminhos em abordagens terapêuticas e pode explicar novas correlações potenciais entre apresentações de HD e fatores ambientais ou biológicas.

Juvenile Huntington disease in Argentina.

We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.

[Rational use of psychotropic medications and sedative load in older adults with and without dementia]. / Uso de psicofármacos y carga sedativa en pacientes adultos con y sin demencia.

Sedative drugs use has been associated with more cognitive impairment and increased mortality. Sedative load refers to cumulative exposure to multiple drugs with sedative properties. OBJECTIVE: Describe the use of psychotropic drugs and sedative load in older adults with and without dementia. MATERIAL AND METHODS: We conducted a cross-sectional study from 2014-2015 (Sanatorio Trinidad Mitre), in hospitalized patients older than 65 years old. Drugs were classified according to the WHO ATC system. The sedative load of drugs was calculated using the Linjakumpu model. RESULTS: 152 PsD and 35 PcD patients were registered, mean age 80.8±8.42. Polypharmacy was present in 44.39% being higher in patients with dementia than without dementia (62.80% vs 40.13%, p=0.0147). In 40.64% at least one psychotropic/sedative medication was used, greater in PcD (60% vs 36.18%, p=0.0097). The CS was: 1.32±1.59; 2.14 in PcD and 1.13 in PsD (p<0.001). Atypical antipsychotics and benzodiazepines were the most common (51.43 and 40% respectively) in patients without dementias. CONCLUSION: we evidenced a high level of prescription psychotropic or sedative drugs, mostly in patients with dementia. In those, the sedative load was greater. This finding highlights the importance of implementing strategies to optimize sedative drug use among older people.

Focal Task-specific Dystonia among Professional Musicians in Latin America.

In Response To: Frucht SJ. Focal task-specific dystonia-from early descriptions to a new, modern formulation. Tremor Other Hyperkinet Mov. 2014; 4. doi: 10.7916/D8VD6WHP.

Pan-American Consortium of Multiple System Atrophy (PANMSA). A Pan-American multicentre cohort study of multiple system atrophy.

BACKGROUND: Multiple system atrophy (MSA) is an adult-onset and rapidly progressive, neurodegenerative condition that presents with autonomic dysfunction, parkinsonism, cerebellar ataxia and corticospinal deficits. Clinical, demographic and epidemiological data from different regions have provided valuable information concerning the natural history of MSA. There are no published data of Multiple System Atrophy (MSA) in Latin American countries. OBJECTIVE: To describe clinical and epidemiological data of patients with "possible" MSA from seven referral movement disorders centers from Argentina, Chile, Mexico, Peru and United States. METHODS: We conducted a retrospective, observational, cross-sectional Pan-American multicentre cohort study of MSA. RESULTS: The sample was composed of 82 females and 77 men with the diagnosis of "possible" MSA with a mean age at onset of 65 ± 10 years. 67.29% of the individuals had a MSA-P variant with a mean age at onset of 61.47 ± 10.28 years, whereas the mean age at onset in the MSA-C patients was 57.44 ± 10.58 years. Interestingly, MSA-C-was more prevalent in Non-Caucasian (50-Mestizo and 2 Asian patients) than Caucasians (51.92% vs. 20.79%, p = 0.0001). Dysautonomic symptoms were present in 95.6% of the patients, parkinsonism in 85.5%, pyramidal signs in 25.8% and depression in 48.4% of the patients. CONCLUSIONS: Our epidemiological and clinical data appears to be similar to other Western international series, however, of note, the MSA-C phenotype was predominant in Non-Caucasians, more specifically the Mestizo population. This observation opens a new path to explore. Larger prospective epidemiologic studies in Latin America may provide valuable information concerning MSA in the region.