Resumo em Inglês:

Abstract Background West syndrome is an epileptic encephalopathy for which combination therapies with adrenocorticotropic hormone and vigabatrin have emerged as new treatment options. Objective To evaluate the clinical and electroencephalographic remission rates, tolerability, and relapse rates in patients with West syndrome who failed primary treatment and underwent sequential therapy with vigabatrin and adrenocorticotropic hormone. Methods We included 39 patients with West syndrome from 2 specialized centers, aged 2 to 120 months. The patients were treated with intramuscular tetracosactide depot added to vigabatrin and were prospectively followed up for ≥ 1 year. The outcomes were clinical, and electroencephalographic remission rates at 7 and 30 days and 1 year following combined therapy initiation, progression to other epilepsy types, therapy tolerability, and relapse rates were recorded. Results Of the original sample, 71% of the subjects were boys, and 87% had a known etiology. The clinical and electroencephalographic remission rates were 46.1%, 94.8% (p = 0.001), and 74.1% (p = 0.01) at 7 and 30 days, and 1 year after the initiation of combined therapy, respectively. At the 1-year follow-up, adverse effects were observed in 86.0% and the relapse rate was 21.6%. After a median follow-up of 21 months, 73.6% of the patients developed epilepsy. Conclusion Combined therapy demonstrated a favorable efficacy profile in achieving clinical and electroencephalographic remission but was associated with significant seizure relapse rates in the medium term. Thus, it represents a feasible option for patients in whom initial treatment has failed.

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Abstract Background Charcot-Marie-Tooth disease (CMT) is a progressive neurological disorder that typically manifests in early childhood. The natural progression of CMT in Brazilian pediatric and adolescent populations remains unknown. Objective To evaluate the natural disease progression in Brazilian children and adolescents with CMT using the Charcot-Marie-Tooth Pediatric Scale (CMTPedS). Methods A longitudinal observational study was conducted to assess disease progression over a 2-year period through 3 evaluations, spaced 1 year apart, in children and adolescents aged 5 to 18 years with a confirmed CMT diagnosis. Height, weight, body mass index (BMI), fat-free mass, and functionality (assessed via the CMTPedS) were evaluated in each of the three sessions. Results We included 30 participants of both sexes with a mean age of 11.1 ± 3.2 years. Significant increases in height, weight, and BMI were observed, alongside a decline in the percentage of lean body mass across evaluations. The total score on the CMTPedS increased by 4.5 points throughout 2 years, indicating disease progression, with notable deterioration in functional dexterity, pinprick and vibration sensations, and gait. Significant progression was evident within 1 year, with an average annual deterioration of 2.25 points. The subgroup with CMT type 1A (CMT1A) presented an increase of 4 points in the total score, corresponding to an average annual progression of 2 points. Unlike the overall CMT group, the CMT1 subgroup did not exhibit a decline in the pinprick sensation score. Conclusion Children and adolescents with CMT exhibit significant disease progression within 2 years, with measurable deterioration observed as early as 1 year. The CMTPedS is a reliable tool to monitor CMT progression in this population.

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Abstract Background For the purposes of the present study, we define vertigo as the sensation of rotation of the environment or of the person moving. The demand for care for this complaint has been increasing; therefore, it is important to know the profile of patients treated with this complaint, the causes, the comorbidities, the associated factors, and the response of these individuals to rehabilitation. Objective To analyze the epidemiological profile of patients reporting vertigo and their outcome after physiotherapeutic rehabilitation. Methods We conducted a descriptive cross-sectional study of secondary data analysis. The sample was collected through a census in a specialized clinic in the south of the state of Santa Catarina, Brazil. Individuals were evaluated through a questionnaire developed by the authors, which covered the patient's demographic and clinical data. The statistical analysis was performed using the IBM SPSS Statistics for Windows (IBM Corp.) software, version 23.0. Results A total of 200 medical records were evaluated, 5 of which were excluded due to non-adherence to treatment, totaling a sample of 195 patients. Their mean age was of 51.18 ± 16.84 years, 62.6% were female subjects, and benign paroxysmal positional vertigo (BPPV) was the most prevalent cause (55.9%), with associated symptoms such as tinnitus (30.8%) and depression and/or anxiety (29.2%). Of the 195 patients, 193 responded positively to the vestibular rehabilitation treatment, and the vertigo of 58% improved after 1 session. Conclusion The population older than 50 years of age is the most affected by vertigo, especially women, with BPPV as the main cause and associated symptoms such as tinnitus, depression, and anxiety. Most patients improved after the first vestibular rehabilitation session.

Resumo em Inglês:

Abstract Background Restless legs syndrome (RLS) is a neurological disorder characterized by unpleasant sensations in the legs often linked to risk factors such as female gender and obesity. Objective To explore the correlation between lower extremity subcutaneous adipose tissue thickness (ATT) and RLS, regardless of body mass index (BMI). Methods A total of 212 RLS patients and 92 controls were included in this study. The ATT measurements were obtained using a caliper at the midcalf and knee regions and compared between groups. Data analysis was conducted using the IBM SPSS Statistics For Windows (IBM Corp.) software, version 23.0, with multiple logistic regression modeling employed. Values of p < 0.05 were considered statistically significant. Results The BMI and ATT were significantly higher in female patients (p < 0.001). Notably, patients experienced substantial weight gain in the second decade of symptom onset. Midcalf ATT was significantly lower in RLS patients than controls (p < 0.0005). The likelihood of RLS increased 1.107 times with each unit decrease in midcalf ATT, 1.051 times per increase in year of age, 1.015 times per unit decrease in ferritin level, and 1.072 times per unit decrease in the vitamin D level. Conclusion The present study suggests a potential role of leg subcutaneous adipose tissue in RLS pathophysiology, regardless of BMI; it may influence RLS symptoms, offering a novel perspective on its etiology. Further research is warranted to validate these observations and investigate the underlying mechanisms.

Resumo em Inglês:

Abstract Background The importance of integrating palliative care (PC) competencies into the management of neurological diseases is increasingly acknowledged. The National Medical Residency Program Commission (NMRPC) mandates the inclusion of PC in the curricula of neurology residency programs (NRPs). Objective To evaluate the implementation of PC training in NRPs across Brazil and to identify barriers to its effective integration. Methods We conducted a cross-sectional study using an anonymous online survey distributed to all NRP directors in Brazil through the Brazilian Academy of Neurology (BAN). The survey, approved by the institutional ethics committee, comprised 19 questions assessing PC training in NRPs. The responses were analyzed descriptively using IBM SPSS Statistics for Windows (IBM Corp.) software, version 26.0. Results The survey achieved a 32% (29 programs) response rate. Of the respondents, 82.8% (24 programs) reported the presence of an institutional PC team, and 75.9% (22 programs) incorporated PC training into their programs. However, only 1 neurology faculty member had formal PC training, and 37% of the directors expressed dissatisfaction with the quality of PC education. Key barriers included limited faculty availability (72.4%), lack of PC expertise (69%), and insufficient teaching time (58.6%). Conclusion Palliative care training in Brazilian NRPs lacks consistency and systematic implementation. There is an urgent need for enhanced faculty training and strategic interventions to address structural and curricular barriers to improve PC education.

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Abstract Several studies describe a strong association between structural and functional abnormalities of the cerebellum and psychiatric disorders. It is possible to find investigations especially in cases of schizophrenia, bipolar disorder, depression, anxiety disorders, attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD). The involvement of the cerebellum in these conditions is also supported by clinical, functional, and structural imaging studies. The present narrative review aims to discuss and highlight the role of the cerebellum in these disorders, gathering evidence on the possible locations and connections of the affected cerebellar areas and their implications in the cognitive, emotional, and behavioral domains.

Resumo em Inglês:

Abstract Background Although it is known that the most commonly used therapies for West syndrome (WS) are intramuscular adrenocorticotropic hormone (ACTH) and oral prednisolone, there is still controversy in the literature regarding the equivalence of their effects. Objective We aimed to present an updated review comparing the therapeutic and adverse effects of ACTH therapy versus corticosteroids in children with West syndrome (WS). Methods The PubMed, EMBASE, and Cochrane Central databases were searched. The outcomes of interest selected were spasm cessation on day 14 of therapy, cessation of hypsarrhythmia and adverse effects such as weight gain, infection, irritability, and hypertension. Studies were reviewed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, and a meta-analysis was performed. We compared the results using the risk ratio (RR) and odds ratio (OR). for the binary outcomes, with 95% confidence intervals (CI) and a random-effects model. Statistical analysis was performed using RevMan 5.1.7. Results Compared with corticoids, ACTH was associated with a significant increase in weight (RR: 1.41; 95% CI: 1.01–1.97; p = 0.04). There was no significant difference in cessation of spasms on day 14 (OR: 0.91; 95% CI: 0.47–1.47; p = 0.79), hypsarrhythmia (OR: 0.97; 95% CI: 0.22–4.34), irritability (RR: 0.78; 95% CI: 0.30–1.99), hypertension (RR: 0.64; 95% CI: 0.35–1.15; p = 0.14), and infection (RR: 0.69; 95% CI: 0.19–2.50; p = 0.57). Conclusion This study provides robust evidence regarding the safety and efficacy of ACTH or corticoids in children with WS. However, the significant heterogeneity between studies restricts the analysis, emphasizing the need for additional research to assess the best WS treatment option.

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Abstract Clobazam (CLB) has been an established treatment for epilepsy since the 1970s, with a broad spectrum. It is frequently used as add on therapy for refractory patients. Furthermore, it is different from classic benzodiazepines (BZD) for containing nitrogen atoms in 1 and 5 positions of B ring (other are 1.4-BZD). This explains why CLB has a better tolerability and a lower chance of causing sedation, being an excellent option for epilepsy treatment compared with other BZDs. Evidence argues against the development of CLB tolerance in most patients. Antiseizure medication shortages have been reported by many countries, including the one studied here. Shortages make treatment harder, increase the need for extra clinical appointments, for orientation and medication changes, increase medication errors, decrease adherence, and cause insecurity. A literature review showed scarce evidence of alternatives, with a wide variation in dosage equivalence. A survey of specialists revealed that switch appropriateness was deemed inadequate by the majority, due to risk of seizure worsening and side effects. Clonazepam and nitrazepam were the most used BZDs, but there was great variation for clonazepam dosages (0.25–2 mg, commonly 1 per 10 mg of CLB). Better consensus was obtained for nitrazepam (5 per 10 mg of CLB). Gradual tapering of CLB, with concomitant increase of clonazepam or nitrazepam under close supervision, is advised. It is important to assess tolerability and the need for increased dosage. As CLB is an essential tool in the epilepsy armamentarium, shortages pose great risk to the patients. Governments and society must create mechanisms to prevent shortages of critical and unique medications.

Resumo em Inglês:

Abstract The cerebellum is a complex structure tightly connected to the cerebral cortex, brainstem, and spinal cord. It plays an important role in movement coordination and motor planning. Lately, it has been also recognized as a key component in cognitive circuits. The specific motor functions of the cerebellum include the control of the initiation, execution, and velocity of movements, as well as the maintenance of balance, motor coordination, and muscle tonus. Cerebellar lesions typically result in ataxia but can also lead to other manifestations, such as abnormal eye movements, severe vertigo, or impaired motor learning. Additionally, the cerebellum plays a key role in cognitive processes, with dysfunction leading to conditions such as the cerebellar cognitive affective syndrome (CCAS). Functional distinctions are evident between the cerebellar vermis, hemispheres, and flocculonodular lobe, each contributing to different motor and cognitive domains. In the current review, we address the current understanding of cerebellar anatomy and physiology, highlighting the most relevant correlations between lesion location and clinical symptomatology for practicing neurologists.

Resumo em Inglês:

Abstract Brain health is an emerging concept that is gaining international attention. It encompasses cognitive, sensory, social-emotional, behavioral, and motor functions that enable people to reach their maximum potential throughout all stages of life. With substantial preventable components, neurological diseases—including stroke and dementia—are the second largest cause of death worldwide and of disability-adjusted life years (DALYs). Studies continue to underscore the impact of environmental factors, social connections, lifestyle choices, and cardiovascular health on brain health outcomes. Major programs like the Intersectoral Global Action Plan (IGAP) on epilepsy and other neurological disorders of the World Health Organization (WHO), the American Heart Association's Life's Simple 7 (now Life's Essential 8), and national policies in Uruguay, Switzerland, and Norway emphasize the importance of multidisciplinary care and early prevention. At the community level, programs such as the Finnish Geriatric Intervention Study to Prevent Cognitive Impairment and Disability (FINGER) and its global variants emphasize the value of multifactorial interventions suited to the prevalence of social determinants among each population. It is crucial to encourage the incorporation of brain health into professional training, policy development, and public health frameworks. Despite improvements in stroke prevention, Brazil still has gaps in the research and promotion of brain health. To meet the global objectives for brain health, it is imperative to consistently invest in interdisciplinary research, public education, and equitable access to care in order to promote healthier aging and a better quality of life. The present review examines the various aspects of brain health determinants and offers neurologists and other medical professionals the most recent information by emphasizing prevention strategies, early childhood care, and holistic approaches that go beyond disease management.

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Abstract Jan Evangelista Purkyně, born on December 17, 1787, in Bohemia (now part of the Czech Republic), was a prominent scientist renowned for his discoveries in eye, brain, and heart physiology. To honor him 156 years after his death, the present article explores Purkyně's history, from the struggles of his youth to the main legacies he left in medicine, especially neurology.