Abstract in English:

Abstract Background Exploding head syndrome (EHS) is defined by the sudden onset of a short-term loud sounds or explosion-like sensation in the head during sleep, or sleep-wake transitions. Objective To evaluate the clinical characteristics and polysomnographic (PSG) findings of patients diagnosed with EHS. Methods The files of patients with an EHS diagnosis were retrospectively examined. Patients' clinical characteristics; PGS data; and results from the Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI) and Beck Depression and Anxiety Inventory were evaluated. Also, PSG findings were compared with control group data. Results In total, 26 patients with EHS and 22 healthy controls were included in our study. The 16 patients who underwent PSG testing and the control group were similar in terms of age and gender. The total sleep time (p = 0.001), sleep efficiency (p < 0.001), and rapid eye movement (REM) percentage (p = 0.019) were significantly lower in the patient group. The sleep latency (p = 0.001), wakefulness after sleep onset (p = 0.001), N1 percentage (p = 0.010), and PSQI score (p = 0.016) were significantly higher in the EHS group. Furthermore, 96% of the patients reported stress, and 84% of the patients had difficulties falling asleep. Conclusion In this study the features of EHS are characterized and insomnia patterns emerge from PSG data. Examination with PSG should be considered in the presence of sleep disorders that disrupt sleep continuity. Patients' awareness about EHS should be increased, and people should be educated on taking sleep hygiene measures to strengthen sleep structure.

Abstract in English:

Abstract Background Hyperkinetic seizures (HSs), which are generally associated with the frontal lobe (although they may indeed originate from other regions too), are characterized by complex motor movements with high amplitude and short duration. Objective To differentiate HSs originating from the frontal and extrafrontal lobes via electroencephalographic (EEG) features, notably timing. Methods Clinical and video-EEG data of patients with HS were examined retrospectively. The localization of the ictal and interictal discharges, the onset and duration of the hyperkinetic movements, as well as the ictal-postictal electrophysiological and semiological features, were reviewed. The patients were divided into two groups according to their HS onset timing: if the onset of hyperkinetic semiology was in the first 10 seconds, they were classified as early-onset HS; if later, as late-onset HS. Results We included 29 patients (171 seizures); seizure onset was localized to the frontal region in 21 patients, and to the temporal and temporo-occipital regions in 6 patients, and it could not be determined in 2 patients. The HSs started in the early period in 21 patients, and in the late period in 8 patients; HSs originating from the frontal region started earlier than those originating from the temporal region (6.2 versus 25.7 seconds respectively; p = 0.002). Electrophysiological (35.4 versus 95.7 seconds respectively; p = 0.004) and clinical (34.3 versus 94.6 seconds respectively; p = 0.003) seizure durations were shorter in frontal-onset seizures compared with temporal-onset seizures. Conclusion The timing of HS onset and the duration of the seizures are informative in terms of localization. Earlier onset of hyperkinetic semiology and shorter duration may point to a frontal origin.

Abstract in English:

Abstract Background Third cranial nerve (III CN) palsy is an extremely disabling condition with several etiologies and clinical onsets. Identifying the underlying causes and individual risk factors is critical to determine prognosis and guide treatment. Objective To analyze factors associated with III CN palsy, estimate recovery rates across different etiologies, and identify independent predictors of recovery, considering patient characteristics and comorbidities. Methods A retrospective study was performed, including demographics and neurological data of a consecutive series of patients affected by III CN palsy from 2010 onwards. All patients underwent neurological examination, routine neuroimaging, and follow-up. Kaplan-Meier curve and the log-rank method were used to estimate recovery rates by etiology. Univariate and multivariate logistic regressions assessed patient-specific factors as independent predictors of recovery. Statistical significance was fixed as p-value < 0.05. Results Overall, 50 patients were included. The prevailing causative factors were microangiopathy in 36% and miscellaneous in 36% of cases. Hypertension (50%), diabetes mellitus (34%), and cardiovascular diseases (14%) were the predominant comorbidities. Total recovery of the oculomotor function was found in 46% of patients. Kaplan-Meier analysis reported microangiopathy and syndromes as etiological factors significantly related to early recovery time. Age and pupillary involvement emerged as significant independent prognostic factors. Conclusion The etiology significantly influences the recovery estimates of the oculomotor function. At the same time, patients' age, pupillary involvement, and especially hypertension as a comorbidity were the main predictive factors of good outcomes. More extensive studies are required to confirm these findings and include then in clinical practice.

Abstract in English:

Abstract Background Neurology is a medical specialty that involves the study of various pathologies recognized for their high prevalence, morbidity and mortality. To keep up with this epidemiological scenario, we need adequately-trained professionals, whose academic training has its fundamental stage in medical residency. Objective To characterize the existing medical residency programs (MRPs) in Neurology in Brazil in 2025, considering the availability of positions and the distribution of services throughout the country. Methods An active search was conducted for MRP announcements for 2025 using advanced online search tools between October 2024 and March 2025. The list of medical residencies and specializations available on the website of the Brazilian Academy of Neurology (Academia Brasileira de Neurologia, ABN, in Portuguese) was used as an initial reference. Results A total of 50 calls for applications for Neurology for 2025 were evaluated, and 332 vacancies were found, offered by 101 different programs throughout Brazil. Overall, 51.81% of the vacancies (172 positions) were concentrated in the Southeastern region, with 30.72% (102 positions) located in the state of São Paulo. In total, 5 (18,52%) Brazilian states (Acre, Amapá, Rondônia, Roraima, and Tocantins), all in the Northern region, do not offer a Neurology MRP. Conclusion An unequal distribution of medical residency vacancies in Neurology in Brazil is evident, and this pattern converges with other realities of medicine in the country, repeating current patterns of distribution of physicians and neurologists.

Abstract in English:

Abstract Background Rhabdomyolysis is a potentially life-threatening condition that can result from genetic causes. Despite that, little is known about the genetic underpinnings behind monogenic rhabdomyolysis in Brazil. Objective To address the frequency and predictive factors for monogenic causes of rhabdomyolysis in a Brazilian series. Methods Patients presenting with rhabdomyolysis at Universidade Estadual de Campinas (UNICAMP) from April 2024 to October 2025 were selected. Rhabdomyolysis was defined when (1) there was at least 1 episode of creatine kinase (CK) levels ≥ 5x upper limit of normal (ULN) not better explained by exogeneous factors and (2) at least 1 of the RHABDO criteria (R - recurrent episodes of exertional rhabdomyolysis; H - hyperCKemia persisting more than 8 weeks after event; A: accustomed physical exercise; B - blood creatine kinase (CK) > 50x ULN; D - drug ingestion/medication/ supplements or other exogenous and endogenous factors cannot sufficiently explain the rhabdomyolysis severity; O - other family members affected / other exertional symptoms [e.g., cramps or myalgia]). was met. A 2-step genetic investigation was undertaken: first a 50-gene panel enriched in metabolic myopathy genes and for those with negative results, whole exome sequencing (WES). Clinical and demographic data of patients with and without gene etiology were then compared. Results We identified 20 patients, 8 of whom were men, with mean age at the first episode of rhabdomyolysis of 19.5 (2-50) years old. Monogenic etiology was found in 9 of the patients. The associated genes were PYGM (most frequent), CPT II, ACADS, ACADM, ANO5, DYSF and FKTN. Creatine kinase ≥ 5x ULN persisting for more than 8weeks after the event (p = 0.0081), myalgia (p 0.028), objective weakness (p = 0.049) and parental consanguinity (p = 0.0090) were more frequent in the group with genetic cause. Conclusion After properly exclusion of exogenous etiologies, monogenic causes accounted for nearly half of the cases of rhabdomyolysis. Genetic testing should be pursued in those patients with persistent CK elevation, presence of myalgia, objective weakness or parental consanguinity.

Abstract in English:

Abstract Background Arquivos de Neuro-Psiquiatria (ANP) celebrated 80 years in 2023. We have previously evaluated the publication trends throughout the journal's first 40 years. Objective To analyze the publication trends, authorship, and editorial patterns of the volumes 41 to 60 of ANP. Methods We analyzed the volumes 41 to 60 of ANP (1983–2002). Data were tabulated independently by five blinded researchers and crossverified by two independent researchers. Results From 1983 to 2002, 20 volumes, 91 issues and 2,424 articles were published. We analyzed 2,066 articles after excluding nonresearch papers (1,159 original articles and 770 case reports). Compared with the first 20 years, there was a significant increase in the total number of authors/article (3.96 vs. 2.73, p < 0.00001), a significant increase of female authors, from 11 to 28.6% (p < 0.05), and a decrease in the number of pages/article (p < 0.05). Lineu Cesar Werneck, Hélio Afonso Ghizoni Teive, and Milberto Scaff were the most prolific authors. Most of the articles focused on Neurology/Child Neurology subjects, with a progressive decreased percentage of Psychiatry papers and increase in Basic Research contributions. There was a linear increase in the total number of articles from 1983 to 2002 as detected by regression analysis (R2 = 0.9134; p < 0.0001) and an exponential increase from 1943 to 2002 (R2 = 0.9046; p < 0.0001). Most of the articles were written in Brazilian Portuguese, by authors from Southeastern Brazil (60.2%). Conclusion The years 1983 to 2002 marked the transition to the current ANP format: minimal Psychiatry contributions; greater contribution from Southern Brazilian states; and, starting in 1999, greater acknowledgment of sponsorship from research agencies and postgraduate training.

Abstract in English:

Abstract Despite four decades of translational research, no pharmacological agent has been approved for acute traumatic spinal cord injury (SCI) based on class-I evidence. The current narrative review critically examines the seven agents evaluated in phase-II to -III clinical trials—methylprednisolone (MPSS), GM-1 monosialotetrahexosylganglioside, minocycline, riluzole, anti-Nogo-A antibody NG101, VX-210, and granulocyte colony-stimulating factor (G-CSF)—with emphasis on quantitative effect estimates, confidence intervals, and mechanisms of translational failure. Polylaminin, under phase-I evaluation approved by the Brazilian Health Regulatory Agency (Agência Nacional de Vigilância Sanitária, ANVISA, in Portuguese), is discussed in the context of disproportionate public communication relative to the stage of evidence; available human data are limited to a small, uncontrolled, unreviewed pilot study insufficient for efficacy inferences. High-dose MPSS conferred no motor recovery benefit in a meta-analysis of 1,863 participants and was significantly associated with gastrointestinal hemorrhage (odds ratio [OR] = 2.07; 95%CI: 1.02-4.20) and respiratory infections (OR = 1.73; 95% CI: 1.12-2.68). Furthermore, GM-1 ganglioside, G-CSF, and VX-210 failed to meet the prespecified primary endpoints. Minocycline produced inconclusive results in an underpowered phase-II study. Riluzole (Riluzole in Spinal Cord Injury Study [RISCIS]), which was prematurely terminated at 55% of enrollment due to the coronavirus disease 2019 (COVID-19) pandemic, showed a significant motor benefit in patients classified as grade C according to the American Spinal Injury Association (ASIA) Impairment Scale (AIS) (+8.0 points; 95%CI: 1.5-14.4; 2-tailed p = 0.034). The Nogo Inhibition in Spinal Cord Injury (NISCI) trial (2025), the most methodologically rigorous SCI trial to date, demonstrated no primary endpoint benefit but identified functional signals in motor-incomplete injuries. In total, six structural domains of translational failure are identified and methodological solutions proposed.

Abstract in English:

Abstract The high-intensity focused ultrasound (HIFU) technique has become precise, incision-less, and ablative for treating essential tremor (ET) and Parkinson's disease (PD), driven by advances in magnetic resonance imaging (MRI) thermometry and tractography. The current review integrates the main clinical outcomes associated with established and emerging HIFU targets, synthesizing efficacy data, adverse effect (AE) patterns, and procedural characteristics relevant to clinical decision-making. In ET, ventral intermediate nucleus (VIM) thalamotomy results in tremor reductions ranging from 56 to 81%, with a long-term sustained benefit of approximately 73%. In tremor-dominant PD (TdPD), VIM ablation achieves tremor suppression of approximately 62%. Comparatively, HIFU-guided subthalamotomy provides broader motor benefits, with 53 to 57.8% improvement in the Movement Disorder Society's Unified Parkinson's Disease Rating Scale, Part III (MDS-UPDRS III), as well as significant reductions in rigidity and bradykinesia. Pallidotomy improves "off" state motor symptoms and dyskinesias, whereas pallidothalamic tractotomy leads to 52% global motor improvement and 91 % tremor reduction. The AEs vary according to the targets. In VIM procedures, gait imbalance (16-40%) and sensory disturbances (9-26%) predominate, along with dysarthria and dysmetria. Lesions to the subthalamic nucleus (STN) are most commonly associated with dysarthria (10-26%) and gait instability (15-48%). Procedures targeting the globus pallidus internus (GPi) or pallidothalamic tract (PTT) may also present with gait instability or dysarthria, which are generally mild and transient.

Abstract in English:

Abstract Down syndrome regression disorder (DSRD) is a rare cause of neuropsychiatric regression observed in previously-healthy individuals with Down syndrome (DS). There have been reports of brain iron accumulation in the basal ganglia of patients with DS and DSRD, although the underlying etiology remains unclear. The current study aims to report, through detailed neuroimaging, laboratory tests, and clinical data findings, the case of a patient with DS who experienced a significant loss of abilities, accompanied by neuroimaging findings indicative of abnormal brain iron accumulation. While an extensive investigation with blood, cerebrospinal fluid (CSF), and genetic markers was unremarkable, magnetic resonance imaging (MRI) scans revealed abnormal iron deposition and calcifications in the globus pallidus. The abnormal iron accumulation in the basal ganglia of patients with DSRD could be a potential neuroimaging marker for this condition.

Abstract in English:

Abstract The present study reexamines the enduring impact of Antônio Austregésilo Rodrigues de Lima (1876-1960), a pioneer who shaped Brazil's medical landscape. Austregésilo did not just introduce European medical traditions—particularly those of Jean-Martin Charcot and Emil Kraepelin—to Brazil; he reimagined them to address the country's unique struggles with infectious diseases, weak institutions, and rapid social change. His work spanned clinical practice, political advocacy, literature, and education, revealing a career defined by innovation and a relentless drive to professionalize medicine. Yet, Austregésilo's legacy is not without its contradictions. While he helped legitimize neurology in Brazil, his contributions also reflect the ethical, social, and gender biases of his time. This paper argues that his story is ultimately one of creative adaptation—a testament to how global medical knowledge is reshaped within the realities of a postcolonial society.