Arquivos de neuro-psiquiatria最新文献

Since the 1960s, the pathophysiology of dystonia has been primarily attributed to dysfunction of the basal ganglia and their associated pathways. However, growing evidence from both basic and clinical research has highlighted the additional importance of the cerebellum, suggesting that dystonia arises from a motor-network dysfunction involving not only the basal ganglia, but also the cerebellum. Neuroimaging studies reinforce this concept, revealing structural and functional abnormalities in the cerebellum and its afferent pathways in patients with dystonia. Moreover, the dual involvement of the cerebellum and basal ganglia may help explain the frequent co-occurrence of dystonia in patients with ataxia and vice versa. The present review aims to integrate evidence from pathophysiology, clinical studies, genetics, and neuroimaging to underscore the crucial role of the cerebellum in the genesis of dystonia.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease leading to progressive muscle weakness and paralysis. Approximately 10% of ALS cases are familial (FALS), with the VAPB gene's P56S pathogenic variant being notably prevalent in Brazilian families, contributing to the rare ALS8. This variant progresses more slowly than typical ALS, with distinct clinical features.To identify VAPB gene pathogenic variants in Brazilian FALS patients, particularly the P56S pathogenic variant associated with ALS8 and explore its clinical presentation and progression.Twelve FALS patients from 12 unrelated families in Rio de Janeiro were included in the study between 2023 and 2024. Clinical, laboratory, and electrophysiological data were reviewed. Collection of DNA samples happened via oral swabs, and VAPB gene sequencing was performed to identify pathogenic variants, specifically the P56S variant linked to ALS8.There were 3 cases of the P56S pathogenic variant, all presenting ALS8 with symptom onset in the lower limbs and slower disease progression. A family with 11 affected members across four generations showed an autosomal dominant inheritance pattern, with varying survival rates, highlighting its clinical variability.The present study underscores the importance of genetic screening for ALS subtypes, particularly ALS8, in Brazil. Identifying the P56S pathogenic variant enhances our understanding of ALS's genetic diversity and clinical presentation, offering a foundation for improved diagnostic practices and personalized care.

The syndrome defined by cerebellar ataxia, neuropathy, and vestibular areflexia (CANVAS) has been previously described as a cause of late-onset ataxia. With the discovery of biallelic expansion in the replication factor C subunit 1 (RFC1) gene as its underlying genetic cause, this syndrome and the broader gene disease became more clinically heterogeneous and one of the most common genetic causes of ataxia in adults.To characterize the phenotypic spectrum of RFC1 expansion using a multidisciplinary approach combining neurological, otoneurological, and neuroimaging assessments.A retrospective cohort study comprising patients with a genetically confirmed diagnosis of biallelic RFC1 repeat expansions was conducted. Data related to neurological examination, video head impulse test (vHIT), caloric tests, posturography, electromyography/nerve conduction studies and brain magnetic resonance imaging (MRI) were considered.We included 15 patients, of whom 10 (66.7%) presented with the complete clinical triad. At neurological examination, 13 patients showed signs of peripheral neuropathy. Cerebellar dysfunction was observed in 12, whereas postural instability was seen in 11. Electromyography/nervous conduction studies revealed peripheral neuropathy in all of the cases, while bilateral vestibular dysfunction was confirmed in approximately half of them. The mean balance values from the posturography were lower in the majority (n = 14). In the imaging assessment (n = 11), 6 patients displayed significant vermian atrophy, predominantly in the anterior/dorsal regions, while the other 5 patients showed moderate atrophy.This study underscores the clinical importance of comprehensive phenotyping and multimodal diagnostic approaches-including neurological, otoneurological, electrophysiological, and imaging assessments-in enhancing diagnostic precision, especially when neurological examination findings are inconclusive or in atypical/incomplete clinical presentations.

Timely identification of large-vessel occlusion (LVO) in ischemic stroke is essential for optimizing prehospital triage and enabling rapid mobilization of thrombectomy-capable teams. Traditional LVO screening tools are often lengthy and reliant on neurological examination skills that may be inaccessible to nonspecialists.To assess the ability of large language models (LLMs) to detect LVO using only free-text summaries, with or without National Institutes of Health Stroke Scale (NIHSS) data, in a national teleneurology service.We conducted a retrospective analysis of 2,887 suspected stroke cases across 21 spoke hospitals within a national TeleStroke network. Neurologist-authored case summaries were processed using natural language processing techniques, including text embedding and supervised machine learning classification. Contextual LLMs (BERTimbau, BioBERTpt, GPorTuguese-2) were evaluated with five algorithms. The Bootstrap method was employed to mitigate class imbalance, with performance averaging over 100 iterations.Of 1,060 cases included in the final dataset, 143 had confirmed proximal occlusions. Median Alberta Stroke Program Early CT Score (ASPECTS) was 9 and mean National Institutes of Health Stroke Scale (NIHSS) was 5.4 ± 2. AdaBoost paired with BioBERT yielded the highest accuracy (89.82%), precision (98.37%), and AUC (89.86%). Incorporating NIHSS as a numerical feature improved recall (87.60% with multilayer perceptron) and F1-score (89.05% with Dense Neural Network). BioBERT consistently outperformed other models, regardless of NIHSS inclusion.The LLM-based models demonstrated strong performance in identifying LVO using routine clinical narratives. These findings support the integration of NLP and ML in TeleStroke systems and underscore the need for further validation across larger, multilingual datasets to ensure generalizability and clinical applicability.

Neuromyelitis optica spectrum disorder (NMOSD) is a debilitating recurrent inflammatory disease of the central nervous system. Establishing management guidelines is essential to optimize patient care in Brazil.To combine the Delphi and Grading of Recommendations Assessment, Development, and Evaluation (GRADE) approaches to validate evidence-based guideline statements for NMOSD treatment.These guidelines focused on providing recommendations for different scenarios: general management and diagnosis of NMOSD; acute and preventive treatments (including systemic immunosuppressants and anti-B cell, anti-interleukin-6, and anti-complement monoclonal antibodies); and therapeutic approaches in special groups (such as the pediatric population and pregnant women). A literature review based on the Population, Intervention, Comparator, and Outcome (PICO) framework was performed, and studies were evaluated using the GRADE system. An initial questionnaire containing 19 statements was sent to 44 specialists from all regions of Brazil.Three voting rounds were necessary to reach consensus in all statements. After the first voting round, 17 statements reached consensus (level of agreement > 70%). Two statements failed to reach consensus and were, thus, revised. One of them was segmented into three different statements. After the second voting round, three out of the four revised statements reached consensus. Upon further revision, the last statement was again submitted to voting, reaching consensus in this third round. Overall, agreement was achieved on the 21 proposed statements.The primary objective in the management of NMOSD is to mitigate the severity of the attacks and prevent relapses, thereby minimizing the risk of irreversible neurological deficits. The statements in the current guideline offer evidence-based recommendations for such management within the Brazilian context.

Pituitary macroadenomas (PMAs) are frequently encountered tumors, predominantly characterized as soft and easily resectable during neurosurgery. In contrast, fibrous PMAs present difficulties during surgical removal. Therefore, the ability to predict the consistency of PMAs preoperatively could enhance surgical planning.To evaluate the ability of conventional T2-weighted imaging (T2WI) to predict PMA consistency by comparing isolated tumor signal intensity with the adenoma-to-middle cerebellar peduncle (ACP) ratio.Magnetic resonance imaging (MRI) scans from 45 patients with PMAs were independently reviewed by 3 blinded radiologists. For each case, the signal intensity (SI) of the adenoma and of the middle cerebellar peduncle was measured, and the ACP ratio (SI_adenoma/SI_peduncle) was calculated. Tumor consistency (soft or fibrous) was determined intraoperatively by a single neurosurgeon.Intraoperative assessment classified 29 PMAs (64.4%) as soft and 16 (35.6%) as fibrous. Isolated adenoma SI on T2WI differed significantly between soft and fibrous tumors (p = 0.013), while the ACP ratio demonstrated stronger discriminatory power (p < 0.0001). The receiver operating characteristic (ROC) curve yielded an area under the curve of 0.939 for the ACP ratio. Threshold values > 1.59 were highly predictive of soft tumors (sensitivity 72.4%; specificity 100.0%), whereas values < 1.27 were associated with fibrous tumors (sensitivity 100.0%; specificity 37.5%).Although isolated adenoma SI on T2WI showed statistical significance, it was not sufficient for consistent preoperative prediction of tumor consistency. The ACP ratio provided superior accuracy and clinical utility, supporting its role as a noninvasive imaging biomarker to enhance preoperative assessment and surgical planning in patients with pituitary macroadenomas.

Stroke is a major cause of mortality and disability globally. Dysphagia is a frequent complication that increases the risk of aspiration pneumonia, a key contributor to stroke-related deaths. Early screening is essential for improving outcomes.To identify clinical indicators that can help prioritize swallowing assessments in the emergency room, enabling faster and safer resumption of oral feeding.A prospective cohort of 134 postacute ischemic stroke patients admitted to the emergency room was assessed. Patients were divided into 2 groups: G1 (at risk of dysphagia) and G2 (no risk). Swallowing function was evaluated using the Dysphagia Risk Evaluation Protocol (DREP) and the American Speech-Language-Hearing Association National Outcomes Measurement System (ASHA-NOMS) scale. A subset (n = 15) underwent videofluoroscopic swallowing study (VFSS). Stroke severity was measured using the National Institutes of Health (NIH) stroke scale (NIHSS). Statistical analyses included t-tests, Chi-squared test, Pearson's correlation, and Cochran's Q test (p < 0.05).Patients from G1 were older (mean: 69.1 vs. 63.0 years, p = 0.023), had more severe strokes (NIHSS ≥ 9.8, p = 0.002), and were more likely to require alternative feeding methods. Older age and longer hospital stays correlated with increased dysphagia risk. Coughing during the 50-ml water swallow test was a strong predictor of aspiration.Key indicators of aspiration risk in postacute ischemic stroke patients include age ≥ 69, NIHSS score ≥ 9, and the need for alternative feeding. Coughing during the water swallow test is a valuable clinical predictor. Early identification can support targeted interventions and reduce complications.