Resumo em Inglês:

Abstract Background Williams syndrome (WS) is a genetic, multisystemic, and neurodevelopmental disorder. The prevalence of auditory hypersensitivity in WS is high, especially in childhood, with reports in the literature from 94 to 100% of individuals evaluated, which can generate significant impacts on their quality of life. Therefore, the existence of instruments for screening hyperacusis that are easy and quick to apply for use in clinical routine is essential. Objective To translate and perform the cross-cultural adaptation of the Hyperacusis Screening Questionnaire into Brazilian Portuguese. Methods A questionnaire concerning auditory hypersensitivity in WS was translated by two translators who are fluent in English. After the synthesis of the translations, back-translation was performed to analyze similarity, a meeting of the expert committee for semantic and linguistic adaptation of the instrument was held, and pretesting and validation of content and appearance was conducted. Results The translated and adapted version of the questionnaire was similar to the original regarding general and referential meaning. Answers from 324 families of individuals with WS were included, 85.2% of those reported hyperacusis as a ongoing symptom. Conclusion The translation and cross-cultural adaptation of the questionnaire were performed according to the methodology recommended in the literature, with necessary equivalences being made for the Brazilian reality. The instrument developed and tested in the present study proved to be useful in screening for hyperacusis in the population with WS, allowing its use in future investigations on the subject and comparison with other studies.

Resumo em Inglês:

Abstract Background Symptoms in the postictal period are often neglected by professionals and patients/family members. Objective To relate the characteristics of the postictal period with the clinical variables of adult patients with epilepsy. Methods Prospectively, the clinical characteristics of the postictal period were related to the clinical variables and the scores on the Hospital Anxiety and Depression Scale (HADS) and Mini-Mental State Examination (MMSE) of 70 patients with epilepsy. Results The mean age was 47.6 years old, and 34 (48.6%) patients were male, the mean age at onset of epilepsy was 20.3 years old, the epileptic syndrome was structural in 48 cases, the mean score in the MMSE was 23.6, the mean score in the HADS-anxiety was 7.3, and in the HADS-depression it was 5.6. Postictal manifestation occurred in 59 (84.2%) cases, with prolonged duration in 22 (37.2%) cases. There was a difference in the duration and presence of postictal manifestation according to age at the onset of epilepsy. Higher HADS-anxiety scores were associated with the presence of confusion in the postictal period (t-test; 9.3 ± 6.8 versus 5.8 ± 4.8; p = 0.015). Lower MMSE scores were related to postictal anxiety and sleepiness/headache/confusion. Left-sided epileptiform activity (EA) was associated with postictal sleepiness/headache/confusion. There was a difference in postictal manifestation according to epileptic syndrome. Conclusion The characteristics of the postictal period differed according to the age of onset, the type of seizure, and the epileptic syndrome. Different symptoms in the postictal period were associated with the scores on HADS anxiety, MMSE, and left-sided EA on the electroencephalogram.

Resumo em Inglês:

Abstract Background Small fiber neuropathy (SFN) affects thinly myelinated and unmyelinated fibers, often presenting with subtle clinical signs that are undetectable in routine nerve conduction studies. Vitamin B12 deficiency is a known risk factor for SFN, yet early-stage cases frequently remain undiagnosed. Sympathetic skin response (SSR) and cutaneous silent period (CSP) are noninvasive electrophysiological techniques used to assess autonomic and somatic small fiber function. Objective The present study aimed to evaluate the diagnostic utility of SSR and CSP in detecting possible subclinical small-fiber neuropathy (pSFN) in individuals with early-stage vitamin B12 deficiency. Methods The present observational study included 28 patients with vitamin B12 deficiency who had nonspecific complaints, Douleur Neuropathique en 4 Questions (DN4) scores < 4, and normal nerve conduction studies, along with 25 healthy controls. Electrophysiological testing involved SSR recordings from all extremities and CSP measurements from the right median and sural nerves. Results In the patient group, Median Nerve Cutaneous Silent Period (MN-CSP) and Tibialis Anterior -Sural Cutaneous Silent Period (TA-sural CSP) durations were significantly shorter, while termination and onset latencies were prolonged compared with controls. MN-CSP and TA-sural CSP durations demonstrated high diagnostic accuracy. Sympathetic skin response latencies were significantly prolonged in both hands and feet, indicating autonomic dysfunction. No significant differences were observed in SSR amplitudes. Conclusion Sympathetic skin response and CSP are valuable tools for detecting possible subclinical SFN in vitamin B12 deficiency. Sympathetic skin response effectively identified autonomic dysfunction, while CSP provided additional diagnostic value for somatic small fiber impairment. Combining SSR and CSP may enhance early detection of pSFN in vitamin B12 deficiency and allow timely intervention.

Resumo em Inglês:

Abstract The present review article explores the neuroscience of musical perception, examining the roles of specific brain regions in decoding and interpreting music. Musical perception engages multiple cortical and subcortical areas that work in an integrated manner to process musical elements such as melody, harmony, and rhythm. The paper reviews the current knowledge about the brain circuits involved, as well as pathological conditions that result in abnormalities of musical perception. In addition, the relationship between musical perception and neurological conditions such as epilepsy and Alzheimer's disease is explored. The present review is based on findings from structural and functional neuroimaging studies, neuropsychology, neurophysiology, and clinical research, aiming to show how the brain transforms music sounds into meaningful experiences and addressing pathological conditions in which this complex process may be affected, either in isolation or in association with other forms of neurological impairment.

Resumo em Inglês:

Abstract Mercury intoxication poses a significant challenge and growing threat to public health, particularly in the Amazon region. Despite a known history of neurological damage, as evidenced by Japan's Minamata disease, mercury intoxication remains underdiagnosed in Brazil. This review underscores the need for increased clinical awareness among neurologists, as mercury exposure has been linked to over 250 neurological symptoms, including cognitive impairment, cerebellar ataxia, peripheral neuropathy, and psychiatric disturbances. The Indigenous and riverside populations in the Amazon present a high prevalence of cognitive and motor deficits, tremors, and sensory disturbances, which are associated with mercury body burdens. Diagnosis relies on a combination of clinical suspicion, environmental exposure history, and biomonitoring through hair and urine analyses. Given the widespread environmental contamination and potential long-term health consequences, neurologists must be vigilant in recognizing and managing mercury-related neurotoxicity, particularly in vulnerable Brazilian populations.

Resumo em Inglês:

Abstract Cerebellar syndrome is traditionally categorized into three primary types: cerebellar motor syndrome (CMS), vestibulocerebellar syndrome (VCS), and cerebellar cognitive affective syndrome (CCAS) or Schmahmann syndrome (SS). The first type is subdivided into five elemental features: dysmetria, kinetic tremor, asynergia, adiadochokinesis and dyschronometria. The second is characterized by dysmetria of saccades and jerky pursuit, as well as downbeat nystagmus and gaze-evoked nystagmus. And the third type is associated with a broader spectrum of cognitive and affective symptoms, including impairments in executive function, spatial cognition, language processing and emotional regulation. In its extreme form, cerebellar mutism can also develop during childhood following cerebellar vermis surgery. Recent physiological studies have shed light on the underlying neural mechanisms of these syndromes by identifying a common link of dysfunction within the cerebellum's internal forward model. This is essential to the prediction of the outcomes of motor and cognitive actions and underlines dysmetria as the core common element. Despite the diversity in clinical presentation, cerebellar syndromes can be understood as disruptions of a unified neural mechanism, providing a new framework for better understanding of cerebellar deficits.

Resumo em Inglês:

Abstract The cerebellum and basal ganglia are integrated structures of the motor system, classically viewed as separate entities with different roles. Interactions between these structures were believed to occur mainly at the cortical level. However, neuroanatomical studies have resulted in a shift in this perspective. Symptoms attributed to basal ganglia disorders may arise from aberrant cerebellar circuit activity, and, conversely, cerebellar dysfunction may manifest due to pathological changes in basal ganglia pathways. In this narrative review, we present multiple disorders of the basal ganglia and cerebellum, highlighting their intricate interactions.

Resumo em Inglês:

Abstract Neurofascin constitutes a family of cell-surface proteins identified more than 4 decades ago, produced through alternative RNA splicing, with various isoforms expressed in neural tissues. With the emergence of chronic inflammatory demyelinating polyneuropathy (CIDP) subtypes characterized by distinct pathological mechanisms, antineurofascin antibody-mediated neuropathies have gained attention and are now categorized as autoimmune nodoparanodopathies. Among these, the anti-pan-neurofascin immunoglobulin G3 (IgG3) subtype presents a particularly severe and diagnostically-challenging phenotype, marked by a fulminant clinical course, diverse symptomatology, and high rates of morbidity and mortality. Despite its clinical relevance, to date, no comprehensive review has focused specifically on this manifestation, highlighting a significant gap in the literature. To address this, we herein review the seven reported cases and explore the proposed pathophysiological mechanism involving the destruction of the node of Ranvier via hyperactivation of membrane attack complex (MAC) formation. Additionally, we examine emerging evidence supporting the use of eculizumab as a potential therapeutic option, alongside other treatment strategies. Finally, we discuss the role of standardized antibody assays, serological analyses, and neurophysiological studies in improving diagnostic accuracy.

Resumo em Inglês:

Abstract Background Myasthenia gravis (MG) is a rare neurological disease and the most common autoimmune disorder, characterized by muscle weakness. In Brazil, there is limited data on these patients within the Brazilian public healthcare system (SUS, from Sistema Único de Saúde, in Portuguese). Objective To assess patients with MG in the Brazilian public healthcare system to understand their characteristics, patient journey, and treatment patterns. Methods A retrospective observational study using real-world data from SUS to analyze patients with MG from January 2010 to December 2023. Data were extracted from the DATASUS, focusing on the Outpatient Procedure (SIA) and Hospital Admissions (SIH) information systems. Probabilistic record linkage compiled longitudinal patient data, assessing epidemiology, demographics, clinical characteristics, and treatment patterns, including medications, doses, and lines of treatment (LOT). Results A total of 13,476 patients with MG were identified. Admissions in healthcare units increased over the years, with 30.4% experiencing exacerbations and 9% crises. The mean age was 45.6 years, with a majority being female (65.4%) and white (53.4%). The case–fatality rate rose from 0.76% in 2011 to 1.90% in 2023. Treatment patterns showed frequent transitions between LOT, indicating constant instability and inadequate symptom control, with azathioprine and pyridostigmine being the most used medications. Some patients started treatment with intravenous immunoglobulin (IVIg), used in combination with other medications, and continued it continuously. Conclusion The study highlights the increasing burden of MG on SUS, emphasizing the challenges of disease management and the need for continuous advancements in diagnostic and therapeutic strategies to improve patient outcomes.

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Abstract Background Transient ischemic attack (TIA) is a critical vascular event that often precedes strokes. Despite its significance, management varies widely across physicians. Objective To evaluate the knowledge and practices of Brazilian physicians regarding TIA diagnosis and management. Methods A survey was conducted among members of the Brazilian Academy of Neurology. It included questions about demographic information, TIA management practices, and knowledge of guidelines. Results While most respondents were neurologists or residents, there was significant variability in hospital admission, diagnostic testing, and treatment strategies. Many physicians relied on risk stratification tools but did not consistently follow guidelines for diagnostic imaging or medication. Conclusion These findings highlight the need for improved education and standardized protocols for TIA management in Brazil. Implementing public health policies to address these gaps could significantly reduce stroke recurrence rates and improve patient outcomes.

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Abstract Medication-overuse headache affects 1 to 2% of the global population and is often associated with chronic migraine. This condition significantly impacts the lives of patients, as well as their families, and it poses a major economic burden due to lost productivity and medical costs. The present narrative review is part of a controversy session. We argue that reversing the behavior of overusing symptomatic pain medications is important for the treatment of this type of headache. To support this argument, the article reviews and critically analyzes the relevant literature on the subject.

Resumo em Inglês:

Abstract Medication-overuse headache (MOH) was first described in 1951 with ergotamine overuse. Since then, much has been studied about its risk factors, pathophysiology, prevention, and treatment. Despite this, many people still suffer from this condition. Even for those who reach medical care, the path to maintaining significant improvement is neither short nor easy. Here, we propose the ubiquitous individualization of headache treatment. The more we study the condition, the more it becomes evident that different groups of patients benefit from different approaches: starting prophylactic medication immediately or postponing it, providing a bridge treatment or not, and advising patients to either stop medication overuse immediately or reduce it gradually.

Resumo em Inglês:

Abstract Recent studies demonstrate a significant paradigm shift concerning migraine patients suffering from medication overuse (MO). Traditionally, doctors used to demand that patients who overused medications be withdrawn before beginning any preventive therapy; however, such a belief has recently been challenged by emerging evidence about the benefit of calcitonin gene-related peptide monoclonal antibodies (CGRP mAbs), which have shown similar effectiveness in several clinical trials and real-world studies, regardless of whether a patient has previously stopped taking excessive medications. The data indicates that patients undergoing CGRP mAb therapy naturally decreased their acute medication consumption as migraine frequency diminished without requiring forced discontinuation. Furthermore, safety analyses have confirmed favorable tolerability profiles when CGRP mAbs are administered concurrently with various acute medications. This new evidence-based approach offers several clinical advantages, including enhanced treatment adherence and reduced risk of withdrawal complications. These findings support transitioning from mandatory detoxification protocols toward more individualized treatment strategies, representing a significant advancement in clinical migraine management.

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Abstract The present paper explores the extraordinary life of cellist Jacqueline du Pré, her remarkable contribution to music, and her battle with multiple sclerosis (MS). Beyond her artistic impact, we discuss how her story influenced the creation of the Brazilian Multiple Sclerosis Association (Associação Brasileira de Esclerose Múltipla, ABEM, in Portuguese) and its cultural significance in Brazil, particularly through the play Duet for One, by Tom Kempinski. The study reflects on the role of art as a powerful tool to raise awareness and contribute to the understanding of diseases.