Revista de neurologia最新文献

Introduction: There are many variables to consider when withdrawing anti-epileptic seizure treatment and risk-benefit evaluation is required.

Material and methods: Retrospective study of patients from a neuropediatric clinic who were discontinued from pharmacological treatment for epilepsy and continued without treatment.

Results: Of 57 children from whom treatment was withdrawn, 34 remained without treatment. In 23 cases, treatment was withdrawn once, with a mean seizure-free time until withdrawal of 21 months and a mean age of 10.5 years. Three cases presented seizures but treatment was not reintroduced; the average time without a crisis was 44.78 months. Treatment was withdrawn twice in nine children and three times in two children, with a mean seizure-free time until withdrawal of 28.5 months; the average age was 16.3 years. Two cases presented seizures but treatment was not reintroduced; the average time without a crisis was 5.7 years. High-risk cases of recurrent epileptic seizures were left without anti-seizure medication: seven cases of intellectual disability, one refractory epilepsy, two cases of epilepsy with onset in adolescence, and in 11 children, 13 instances of failure in previous withdrawal attempts.

Discussion: The indication and maintenance of treatment with anti-seizure drugs in children must prioritize patient welfare and be based on three premises: the treatment is indicated, the treatment is tolerated, and the treatment is effective. The decision to withdraw must be made on a case-by-case basis, acknowledging the risk of relapse and taking into account efficacy and tolerance, especially in children with behavioral and neurodevelopmental disorders.

Landau-Kleffner syndrome is a developmental epileptic encephalopathy that manifests mainly in pediatric patients, characterized by verbal auditory agnosia and focal, bilateral, and focal and diffuse epileptic activity, visualized through electroencephalographic recordings performed during sleep. It is a rare syndrome with a variable, multifactorial presentation and unknown etiology, although it has a genetic component in some cases. It is often associated with variants of the glutamate ionotropic receptor N-methyl-D-aspartate (NMDA) type subunit 2A (GRIN2A) gene, which encodes an NMDA receptor subunit of the same name that is involved in various neurophysiological processes. Modifications to this receptor could be associated with the clinical manifestations observed in patients. This review proposes a pathophysiological mechanism related to one of the clinical presentations of this disease, using information published in recent years, and contributes to the understanding of its pathology and the improvement of its management. This syndrome is a rare and complex disease; both its diagnosis and treatment are challenging, limiting patients' therapeutic options and compromising their quality of life.

Introduction: Cerebrospinal fluid (CSF) biomarkers for Alzheimer's disease (AD) are essential for the early identification of non-amnestic phenotypes. Increased levels of total tau (t-tau) and phosphorylated tau (p-tau) have been reported in atypical AD cases, although the specific pattern remains a subject of debate. This study aimed to evaluate CSF biomarker profiles in relation to clinical phenotype.

Materials and methods: A retrospective review was performed, analyzing demographic data, time to diagnosis, clinical phenotype, and core AD biomarkers (beta-amyloid peptide 1-42 (Aβ1-42), t-tau, p-tau) in CSF from patients evaluated at University Hospital in Navarra between 2019 and 2022.

Results: The study included 57 patients (54% female, mean age 67 years), of whom 41 met AD diagnostic criteria. Among these, 10 patients (25%) presented with atypical phenotypes (50% aphasic, 30% frontal, 20% mixed non-amnestic). Compared with the amnestic phenotype, the atypical group exhibited significantly higher t-tau (562.9 pg/mL vs 320.3 pg/mL, p = 0.021) and p-tau (81.5 pg/mL vs 37.7 pg/mL, p = 0.016) levels, independent of age, sex, and time to diagnosis.

Conclusions: Atypical cases demonstrated increased tau levels, suggesting earlier and more extensive cortical damage than the amnestic phenotype. These findings underscore the significance of CSF biomarkers in phenotypic differentiation, disease course prediction, and individualized treatment strategies for AD.

Background: Virtual reality (VR) generates a virtual environment with which one can interact as if it were real. In Stroke, which represents one of the highest causes of cognitive impairment in Europe, the use of VR in cognitive rehabilitation has been studied through the performance of different types of tasks, which could have different impacts. For this reason, the objective of this study was to review the use of VR tasks based exclusively on daily activities for the cognitive rehabilitation of people with stroke over 18 years of age.

Methods: A search was carried out of the databases PubMed, Web of Science, and Scopus, obtaining 531 articles that, after applying inclusion/exclusion criteria, were reduced to eight (six randomized clinical trials and two quasi-experimental studies).

Results: The number of positive results was higher than the number of negative results only in global cognitive function. In specific cognitive functions the number of positive results was lower than the negatives.

Conclusions: These results highlight the need to carry out more studies with larger samples to obtain robust results and conclusions. Furthermore, this study highlights the value of research in this topic due to the interesting lines of future research.

Introduction: The management of minor ischemic stroke presents significant challenges due to variability in the application of neuroimaging protocols and endovascular treatment (EVT). The lack of consensus on the need for computed tomography angiography (CTA) in these cases highlights the importance of investigating the prevalence and clinical implications of large vessel occlusion (LVO) in this population.

Methodology: Analysis of the multicenter CODICT registry in patients with minor ischemic stroke (National Institutes of Health Stroke Scale (NIHSS) score ≤5) treated at tertiary stroke alert (SA) centers in the Valencian Community between July 1, 2020 and November 30, 2023. The frequency of LVO, defined as occlusions in the internal carotid artery, vertebral artery, basilar artery, and critical segments of the middle (M1, M2), anterior (A1, A2), and posterior (P1, P2) cerebral arteries, was evaluated using CTA.

Results: A total of 5473 SA activations were identified during the study period. A total of 833 patients suffered a minor ischemic stroke. LVO was observed in 17.5% (n = 146) of minor strokes on CTA. EVT was performed in 48.6% (n = 71) of patients with minor stroke and LVO. The most frequently occluded vessels were the middle cerebral artery (MCA) in its M1 and M2 segments, both in 35.6% (n = 52) of cases. However, the vessels most frequently treated with EVT were in the M1, in 29.5% (n = 43) of cases, followed by the M2, in 10.9% (n = 16) of cases.

Conclusions: This study highlights the importance of performing CTA in all patients who meet SA activation criteria, regardless of clinical severity. The presence of LVO changed the clinical management in almost half of the patients with minor stroke and LVO.

Introduction: Stroke has an enormous impact on society, both socially and economically. It is the most common cause of admission and prolonged stay in the Neurology ward.

Methods: We performed a cost-effectiveness analysis of stroke treatment in the Complejo Hospitalario de Santiago de Compostela, where patients are treated in a stroke unit. Firstly, an analysis of the costs of treatment in the stroke unit was carried out, which had not been done before. The costs were compared with those that would be incurred if the disease was treated without the stroke unit, verifying that the existence of such a unit implies an increase in treatment costs. Next, various parameters reflecting the efficacy of the treatment were analyzed to finally perform a cost-effectiveness analysis in order to determine whether the increase in costs is justified by an improvement in outcomes.

Results: Stroke treatment in the centralized stroke unit would be cost-effective if we use mortality during hospitalization or 3 months after discharge, the mRS parameter at discharge or 3 months after discharge, and severe disability at discharge as measures of effectiveness.

Conclusion: The increased costs of a stroke unit are justified by the improved health of the patients.

Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease in which there has been an increase in survival over the past decade due to proactive, multidisciplinary management and the emergence of disease-modifying therapies. Despite this, there are still several critical challenges that significantly impact the quality of life of individuals with SMA individuals. Given the need to better understand the reality of this disease, Fundación de Atrofia Muscular Espinal (FundAME) created a patient registry (RegistrAME).

Methods: RegistrAME is a longitudinal prospective study that collects clinical data and patient-reported outcomes.

Results: The registry included 336 individuals, 51.8% of whom were over 16 years old. Most adult subpopulations were classed as type 2 (49.4%) or type 3 (44.8%). Regarding functional status, 19% walked (39.4% used wheelchairs), 46.6% sat without support (84% needed help to sit), and 34.5% were non-sitters. Furthermore, 24.7% reported having no useful function in their hands or not being able to reach their mouths with their hands. Our study indicates that the adult SMA population is progressively accessing disease-modifier treatments. However, 21.8% of the population is still untreated.

Conclusions: These results provide evidence of a progressive impairment and increased sensitivity to treatment discontinuations in the SMA adult population, along with delayed or reduced access to commercialised SMA drugs and clinical trials. A more rigorous evaluation of the disease's impact and treatment benefits in the adult SMA population is necessary.