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OBJECTIVE: Video-based eye tracking was used to investigate saccade, pupil, and blink abnormalities among patients with Huntington's disease (HD) who watched sequences of short videos. HD, an autosomal dominant neurodegenerative disorder resulting from a CAG mutation on chromosome 4, produces motor and cognitive impairments including slow or irregular eye movements, which have been studied using structured tasks. METHODS: To explore how HD affects eye movements under instruction free conditions, we assessed 22 HD patients and their age matched controls in a 10-minute video-based free viewing task. RESULTS: Patients with HD experienced a significant reduction in saccade exploration rate following video clip transitions, an increase in pupil reactions to luminance changes after clip transitions, and a significant higher blink rate throughout the task compared to the control group. CONCLUSIONS: These results show that HD has a significant impact on how patients visually explore and respond to their environment under unconstrained and ecologically natural conditions. SIGNIFICANCE: Eye tracking in HD patients revealed saccadic, pupil, and blink abnormalities in early HD patients, suggestive of brain circuitry abnormalities that probably involve brain stem deficits. Further research should explore the impact of these changes on the quality of life of the patients affected by the disease.

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In rodents and primates, interval estimation has been associated with a complex network of cortical and subcortical structures where the dorsal striatum plays a paramount role. Diverse evidence ranging from individual neurons to population activity has demonstrated that this area hosts temporal-related neural representations that may be instrumental for the perception and production of time intervals. However, little is known about how temporal representations interact with other well-known striatal representations, such as kinematic parameters of movements or somatosensory representations. An attractive hypothesis suggests that somatosensory representations may serve as the scaffold for complex representations such as elapsed time. Alternatively, these representations may coexist as independent streams of information that could be integrated into downstream nuclei, such as the substantia nigra or the globus pallidus. In this review, we will revise the available information suggesting an instrumental role of sensory representations in the construction of temporal representations at population and single-neuron levels throughout the basal ganglia.

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Nonketotic hyperglycemia may occur as a cause of chorea in patients with chronic decompensated diabetes. Because it is rare and consequently poorly studied, diagnosis and treatment can be delayed. Therefore, our objective was to summarize clinical and radiological features, as well as treatments performed, from previously reported cases to facilitate adequate management in clinical practice. We searched MEDLINE/PubMed, EMBASE, Cochrane, CINAHL, Web of Science, Scopus, and LILACS databases for studies published before April 23, 2021. We included case reports and case series of adults (aged ≥ 18 years) that described hyperglycemic chorea with measurement ofglycated hemoglobin (HbA1c) and cranial magnetic resonance imaging (MRI). Studies were excluded if participants were pregnant women, aged < 18 years, and had no description of chorea and/or physical examination. We found 121 studies that met the inclusion criteria, for a total of 214 cases. The majority of the included studies were published in Asia (67.3%). Most patients were women(65.3%) aged > 65 years (67.3%). Almost all patients had decompensated diabetes upon arrival at the emergency department (97.2%). The most common MRI finding was abnormalities of the basal ganglia (89.2%). There was no difference in patient recovery between treatment with insulin alone and in combination with other medications. Although rare, hyperglycemic chorea is a reversible cause of this syndrome; therefore, hyperglycemia should always be considered in these cases.

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INTRODUCTION: Recent research indicates that some brain structures show alterations in conditions such as Autism Spectrum Disorder (ASD). Among them, are the basal ganglia that are involved in motor, cognitive and behavioral neural circuits. OBJECTIVE: Review the literature that describes possible volumetric alterations in the basal ganglia of individuals with ASD and the impacts that these changes have on the severity of the condition. METHODOLOGY: This systematic review was registered in the design and reported according to the PRISMA Items and registered in PROSPERO (CRD42023394787). The study analyzed data from published clinical, case-contemplate, and cohort trials. The following databases were consulted: PubMed, Embase, Scopus, and Cochrane Central Register of Controlled Trials, using the Medical Subject Titles (MeSH) "Autism Spectrum Disorder" and "Basal Ganglia". The last search was carried out on February 28, 2023. RESULTS: Thirty-five eligible articles were collected, analyzed, and grouped according to the levels of alterations. CONCLUSION: The present study showed important volumetric alterations in the basal ganglia in ASD. However, the examined studies have methodological weaknesses that do not allow generalization and correlation with ASD manifestations.

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BACKGROUND AND PURPOSE: Recent studies have suggested an association between dysfunction of the choroid plexus and the glymphatic system. However, information is inconclusive. Following a population-based study design, we aimed to assess the association between choroid plexus calcifications (CPCs)-as a surrogate of choroid plexus dysfunction-and severity and progression of putative markers of glymphatic dysfunction, including white matter hyperintensities (WMH) of presumed vascular origin and abnormally enlarged basal ganglia perivascular spaces (BG-PVS). METHODS: This study recruited community-dwellers aged ≥40 years living in neighboring Ecuadorian villages. Participants who had baseline head CTs and brain MRIs were included in cross-sectional analyses and those who additional had follow-up MRIs (after a mean of 6.4 ± 1.5 years) were included in longitudinal analyses. Logistic and Poisson regression models, adjusted for demographics and cardiovascular risk factors, were fitted to assess associations between CPCs and WMH and enlarged BG-PVS severity and progression. RESULTS: A total of 590 individuals were included in the cross-sectional component of the study, and 215 in the longitudinal component. At baseline, 25% of participants had moderate-to-severe WMH and 27% had abnormally enlarged BG-PVS. At follow-up, 36% and 20% of participants had WMH and enlarged BG-PVS progression, respectively. Logistic regression models showed no significant differences between CPCs volumes stratified in quartiles and severity of WMH and enlarged BG-PVS. Poisson regression models showed no association between the exposure and WMH and enlarged BG-PVS progression. Baseline age remained significant in these models. CONCLUSIONS: Choroid plexus calcifications are not associated with putative markers of glymphatic system dysfunction.

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BACKGROUND: One of the characteristics of parkinsonian tremor is that its amplitude decreases with movement. Current models suggest an interaction between basal ganglia (BG) and cerebello-thalamo-cortical circuits in parkinsonian tremor pathophysiology. OBJECTIVE: We aimed to correlate central oscillation in the BG with electromyographic activity during re-emergent tremor in order to detect changes in BG oscillatory activity when tremor is attenuated by movement. METHODS: We performed a prospective, observational study on consecutive parkinsonian patients who underwent deep brain stimulation surgery and presented re-emergent tremor. Coherence analysis between subthalamic nucleus/globus pallidus internus (STN/GPi) tremorous activity measured by microrecording (MER) and electromyogram (EMG) from flexor and extensor wrist muscles during rest, posture, and re-emergent tremor pause was performed during surgery. The statistical significance level of the MER-EMG coherence was determined using surrogate data analysis, and the directionality of information transfer between BG and muscle was performed using entropy transfer analysis. RESULTS: We analyzed 148 MERs with tremor-like activity from 6 patients which were evaluated against the simultaneous EMGs, resulting in 296 correlations. Of these, 26 presented a significant level of coherence at tremor frequency, throughout rest and posture, with a complete EMG stop in between. During the pause, all recordings showed sustained MER peaks at tremor frequency (±1.5 Hz). Information flows preferentially from BG to muscle during rest and posture, with a loss of directionality during the pause. CONCLUSIONS: Our results suggest that oscillatory activity in STN/GPi functionally linked to tremor sustains firing frequency during re-emergent tremor pause, thus suggesting no direct role of the BG circuit on tremor attenuation due to voluntary movements. © 2024 International Parkinson and Movement Disorder Society.

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El síndrome de Fahr, o ferrocalcinosis cerebrovascular, o calcinosis de los núcleos del cerebro, se caracteriza por un depósito anómalo del calcio sin anomalía en el metabolismo del calcio. Se acumula, principalmente, en los ganglios basales, núcleos dentados cerebelosos y sustancia blanca. Es un trastorno neurológico degenerativo asociado a síntomas tales como trastornos del movimiento y síntomas neuropsiquiátricos. Se presenta el caso de un paciente masculino de 65 años de edad, de procedencia rural, viudo, con antecedentes personales de hipertensión arterial, diabetes mellitus tipo 1 y adenoma de próstata, para lo cual lleva tratamiento con Cardicor, Lasix, Plaunac, DuoPlavin y Adenuric. Es llevado a emergencias por la ambulancia presentando convulsiones tónico-clónicas generalizadas sin relajación de esfínter, que respondieron a la administración de diazepam 10 mg endovenoso. Se diagnosticó enfermedad de Fahr. El paciente evolucionó satisfactoriamente y egresó a los cinco días de su ingreso.

Fahr's syndrome, or cerebrovascular ferro-calcinosis, or calcinosis of the nuclei of the brain, is characterized by abnormal calcium deposition without abnormality in calcium metabolism. It accumulates mainly in the basal ganglia, cerebellar dentate nuclei and white matter. It is a degenerative neurological disorder associated with symptoms such as movement disorders and neuropsychiatric symptoms. The case of a 65-year-old male patient, from rural origin, widower, with a personal history of high blood pressure, type 1 diabetes mellitus, and prostate adenoma is presented. For this, he is treated with Cardicor, Lasix, Plaunac, DuoPlavin and Adenuric. He was taken to the emergency room by ambulance presenting generalized tonic-clonic seizures without sphincter relaxation, which responded to the administration of intravenous diazepam 10 mg. Fahr's syndrome was diagnosed, the patient progressed satisfactorily and was discharged 5 days after admission.

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ABSTRACT Nonketotic hyperglycemia may occur as a cause of chorea in patients with chronic decompensated diabetes. Because it is rare and consequently poorly studied, diagnosis and treatment can be delayed. Therefore, our objective was to summarize clinical and radiological features, as well as treatments performed, from previously reported cases to facilitate adequate management in clinical practice. We searched MEDLINE/PubMed, EMBASE, Cochrane, CINAHL, Web of Science, Scopus, and LILACS databases for studies published before April 23, 2021. We included case reports and case series of adults (aged ≥ 18 years) that described hyperglycemic chorea with measurement of glycated hemoglobin (HbA1c) and cranial magnetic resonance imaging (MRI). Studies were excluded if participants were pregnant women, aged < 18 years, and had no description of chorea and/or physical examination. We found 121 studies that met the inclusion criteria, for a total of 214 cases. The majority of the included studies were published in Asia (67.3%). Most patients were women (65.3%) aged > 65 years (67.3%). Almost all patients had decompensated diabetes upon arrival at the emergency department (97.2%). The most common MRI finding was abnormalities of the basal ganglia (89.2%). There was no difference in patient recovery between treatment with insulin alone and in combination with other medications. Although rare, hyperglycemic chorea is a reversible cause of this syndrome; therefore, hyperglycemia should always be considered in these cases.

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Introducción: La enfermedad cerebrovascular (ECV) es una urgencia neurológica que en ocasiones se encuentra influenciada por los cambios del tiempo. La ECV isquémica es una emergencia médica con una ventana estrecha para su diagnóstico y tratamiento. El daño generado por esta enfermedad se estima mediante de la mortalidad, discapacidad e impacto social. Objetivo: Proponer un programa de capacitación basado en los efectos fisiopatológicos que provocan en los pacientes, cambios de tiempo y ritmo circadiano en el contexto de la adaptación al cambio climático. Método: Se desarrolló un estudio multietápico prospectivo en el Hospital Universitario Mártires del 9 de Abril del municipio Sagua la Grande entre los años 1993 a 2017. En la primera etapa se seleccionó un universo de 52 profesionales de la salud que atendieron a estos pacientes; en la segunda, 48 y en la tercera, 61. Resultados: El nivel de conocimiento del personal de salud en una primera etapa era inadecuado (78,85 %); en la tercera, este porcentaje disminuyó (14,75 %). Como resultado de la capacitación mejoraron los tiempos de atención a los pacientes con ECV a su llegada al hospital, y en la tercera, más del 50 % de los enfermos fueron atendidos antes de las seis horas de inicio de los síntomas. Conclusiones: La capacitación sobre ECV basada en los efectos fisiopatológicos que provocan en los pacientes el cambio climático y el ritmo circadiano disminuyó el tiempo de espera, y se asoció con una reducción de la morbilidad y la mortalidad, después de aplicar este programa.

Introduction: cerebrovascular disease (CVD) is a neurological emergency that is sometimes influenced by climate changes. Ischemic CVD is a medical emergency with a narrow window for diagnosis and treatment. The damage generated by this disease is estimated through mortality, disability and social impact. Objective: to propose a training program based on the pathophysiological effects in patients caused by changes in time and circadian rhythm in the context of adaptation to climate change. Methods: a multistage prospective study was conducted at "Mártires del 9 de Abril" University Hospital in Sagua la Grande municipality between 1993 and 2017. A universe of health professionals who cared for these patients was selected as follows: 52 in the first stage; 48 in the second stage, and 61 in the third ones. Results: the level of knowledge of health personnel in the first stage was inadequate (78.85%); this percentage decreased in the third stage (14.75%). Care times for CVD patients improved upon arrival at the hospital as a result of the training, as well as in the third ones, more than 50% of the patients were seen within six hours of the onset of symptoms. Conclusions: CVD training based on the pathophysiological effects of climate change and circadian rhythm on patients decreased waiting time, and was associated with reduced morbidity and mortality, after applying this program.

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