Arquivos de neuro-psiquiatria最新文献

Rapid eye movement (REM) sleep behavior disorder (RBD) is marked by abnormal behaviors during REM sleep and is associated with neurodegenerative diseases, such as Parkinson's disease. Early diagnosis is critical for managing these associations effectively.To validate the Persian version of the RBD Screening Questionnaire (RBDSQ-PER) for Persian-speaking patients.The study involved 171 participants from sleep centers associated with the Tehran University of Medical Sciences, including Parkinson's disease patients with RBD, individuals with obstructive sleep apnea, and healthy controls. The RBDSQ was translated into Persian following established linguistic validation protocols. Reliability and diagnostic utility were measured with Cronbach's alpha to determine internal consistency and the intraclass correlation coefficient.The RBDSQ-PER demonstrated a Cronbach's alpha and intraclass correlation coefficient of 0.847, indicating strong internal consistency. The analysis of the receiver operating characteristic curve established a cut-off score of 5.5, differentiating individuals with and without RBD with 100% sensitivity and 93% specificity.The RBDSQ-PER is a reliable tool for screening in Persian-speaking populations, enhancing initial sleep assessments and guiding further diagnostic evaluations. Future research should consider broader patient groups to extend the questionnaire's applicability.

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.

For many decades, the cerebellum was regarded almost exclusively as a structure devoted to motor regulation, responsible for balance, coordination, and the fine-tuning of movement. This view began to change in the 1990s, when studies with patients with isolated cerebellar lesions revealed cognitive and affective disturbances that could not be solely explained by cortical dysfunction. Subsequent anatomical, neuroimaging, and clinical investigations demonstrated robust reciprocal connectivity between the cerebellum and prefrontal regions, while functional imaging confirmed cerebellar activation during cognitive tasks without any motor component. Cognitive impairment linked to cerebellar dysfunction is now recognized as a prominent feature of spinocerebellar ataxias, and it has also been reported in other major neurodegenerative disorders, including Huntington's disease, Parkinson's disease, and Alzheimer's disease. Therefore, the aim of the current narrative review is to synthesize and critically analyze the pathophysiological, neuropathological, genetic, clinical, and neuroimaging evidence that underscores the cerebellum's essential contributions to cognition.

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.

Double-seronegative neuromyelitis optica spectrum disorder (DS-NMOSD) encompasses a heterogeneous spectrum, including monophasic and relapsing phenotypes. While 1/3 patients may follow a monophasic course, lifelong immunotherapy remains common practice due to the fear of relapse. However, this strategy may unnecessarily expose stable patients to long-term adverse effects and economic burden. The condition lacks the relapse-associated mechanisms observed in aquaporin 4 (AQP4)-positive disease, questioning the generalizability of prior treatment-withdrawal studies. Although predictive markers for relapse are still lacking, the median time to relapse is of approximately 3.4 (range: 0-7) years; hence, sustained remission beyond 10 years may indicate a subgroup of patients with low relapse risk. Until prospective data are available, individualized, cautious treatment interruption should be considered, guided by shared decision-making.