Abstract in English:

Abstract Background The movement disorder known as hemifacial spasm is characterized by involuntary contractions of the muscles that are innervated by the facial nerve. The treatment of choice for this condition is botulinum toxin injections. Objective To analyze the botulinum toxin dosage in patients undergoing treatment for hemifacial spasm during a 14-year period. Methods A retrospective study of medical records from patients treated at the Neurology Service of Hospital Universitário Onofre Lopes, Universidade Federal do Rio Grande do Norte, from 2010 to 2024, was performed. Results A total of 151 patients met the inclusion criteria. The dose of botulinum toxin revealed a statistically significant increase during the first 3.46 years of follow-up. In the long-term, a trend toward dose stabilization was identified. The median latency for the onset of effect was 4 days, while the median duration of effect was 3 months. All side effects were temporary, with the most common being hemifacial weakness (17.9%) and palpebral ptosis (3.3%). Most patients presented primary hemifacial spasm (88.1%), with a neurovascular conflict identified in 24.1% of cases. Conclusion The increase in botulinum toxin dosage during the first years may be explained by dosage adjustment to control hemifacial spasm with the lowest possible doses. A prolonged interval between applications may also be associated with this increase. Dose stabilization tends to be achieved over time, indicating disease control.

Abstract in English:

Abstract Background Tafamidis is a kinetic stabilizer that binds to the transthyretin (TTR) gene, inhibiting its dissociation. It is the only disease-modifying treatment for hereditary TTR amyloidosis with peripheral neuropathy (ATTRv-PN) available in the National Therapeutic Form (Formulário Terapêutico Nacional, FTN, in Portuguese) of the Brazilian Unified Health System (Sistema Único de Saúde, SUS, in Portuguese). Objective To assess if the efficacy and safety of tafamidis in the Brazilian real-world experience are comparable to the results of clinical trials. Methods We retrospectively studied all patients with ATTRv-PN evaluated at our center from September 2011 to March 2022 (data cut-off) who were initiated on tafamidis and had at least 1 follow up visit 6 months after the initiation of the drug treatment. Neurologic and functional outcomes were compared from day 1 (D1) of the tafamidis treatment (baseline) to the last follow-up. Results In total, 33 patients were included, 18 (55%) of whom were female. All patients were carriers of the V30M mutation of ATTRv-PN, and 20 (61%) presented early onset (EO) ATTRv-PN. At baseline, the median age of the sample was of 40 (interquartile range [IQR]: 36–68) years, the median Neuropathy Impairment Score (NIS) was of 10 (6–24) points, and the median body mass index (BMI) was of 26 (23–28) kg/m2. The mean follow-up time was of 3.4 years. At the last follow-up, the BMI, the neurological impairment, and the level of disability slightly worsened compared with baseline, while the findings of the nerve conduction studies remained stable. These same results were observed across EO and late-onset (LO) ATTRv-PN patients. A total of 25 (75.8%) patients were considered responders, and 8 (24.2%), non-responders. Conclusion The efficacy and safety of tafamidis reported in clinical trials is expandable to the Brazilian real-world scenario in EO and late-onset (LO) ATTRv-PN.

Abstract in English:

Abstract Background Isolated rapid eye movement (REM) sleep behavior disorder (iRBD) is characterized by loss of the normal atonia of REM sleep accompanied by repetitive motor and behavior phenomena of dream content. Objective To evaluate the reliability and validity of the Turkish version of the original form of the Innsbruck Rapid Eye Movement Sleep Behavior Disorder Diagnostic Inventory (IRBD-9) scale (IRBD-9-TR) and ensure that this screening test can be easily used in the Turkish language. Methods The present is a multicenter and prospective study involving 184 patients: 51 with iRBD and 133 healthy controls. The iRBD patients were not diagnosed before submitted to video polysomnography (vPSG) and filling out the IRBD-9-TR. Results The optimal cut-off value for the IRBD-9-TR symptom score was of 0.28, with a sensitivity of 0.941 and a specificity of 0.947, and 94.4% of the patients were correctly diagnosed. The rotated factor loadings for the diagnostic accuracy of each individual question showed that the short version of the IRBD-9-TR (questions 1, 2, 3, 6, and 8) presented higher specificity and excellent discrimination of iRBD patients from healthy controls. The Cronbach's α coefficient for the symptom section of the IRBD-9-TR was of 0.857, and the Kappa coefficient, of 0.885. Conclusion The short version of the IRBD-9-TR presents good validity and reliability to be used as a screening test to assess iRBD patients. It is convenient and potentially useful in both outpatient clinical and epidemiologic research settings.

Abstract in English:

Abstract Background Parkinson's disease (PD) is a degenerative, progressive, chronic disease that mainly affects the central nervous system, caused by dopamine deficiency. One of the ways to evaluate the central nervous system is with auditory evoked potentials (AEP). Objective To characterize the audiometric responses, and the auditory brainstem response (ABR), and cortical auditory evoked potentials (CAEP) in individuals with PD. Methods Thirty-two patients aged between 40 and 81 of both sexes were assessed, 16 with PD (study group [SG]) and 16 without PD (control group [CG]) matched for sex and age. The subjects were assessed using pure tone audiometry, ABR with click stimuli, and CAEP using the oddball paradigm with tone burst and speech stimuli. The results were compared between the groups using a repeated measures analysis of variance (ANOVA) test. Results In pure-tone audiometry, significantly higher hearing thresholds were found in the SG at 6 and 8 kHz. For the ABR, no differences were observed between groups. The CAEP analysis did not find statistical differences in the latencies between the groups, however, the SG presented smaller amplitudes of P1-N1, P2-N2, and N2-P3 than the CG. Conclusion The results of this study showed a significantly higher threshold in higher frequencies in PD. Although no differences were observed at the brainstem level, the decrease in amplitude of all components in patients with PD in the CAEP suggests a deficit in both automatic and attentional cortical processing of acoustic stimuli.

Abstract in English:

Abstract Background Long coronavirus disease (long COVID, LC) is defined as the continuation or development of new symptoms 3 months after the acute stage of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. In LC, the rate of fatigue/postexertional malaise (F-PEM) has been described to be as high as 70%, regardless of age or severity of the acute symptoms. Objective To evaluate the neuromuscular junction (NMJ) function and the isolated muscle fiber conduction velocity (MFCV) in situ in LC cases and controls. Methods We studied 37 subjects without SARS-CoV-2 (controls) and 32 cases of SARS-CoV-2 infection, half with LC symptoms (LC-yes) and half without them (LC-no). Single-fiber electromyography (jitter measured with a concentric electrode), MFCV, the fast-to-slow MFCV ratio (F/S ratio), and the motor unit potentials (MUPs) were taken in the tibialis anterior muscle. Results At least 1 jitter parameter was abnormal in 1/37 controls, in 1/16 LC-no patients, and in 2/16 LC-yes patients, without significant differences among them. None of the subjects with abnormal jitter presented fluctuation symptoms or positive acetylcholine-receptor antibody. The MFCV and F/S ratios did not show abnormalities in any of the participants. The MUPs did not show myopathic or neurogenic abnormality in needle electromyography. The most frequent symptom in LC was F-PEM, which occurred in all LC-yes patients and was significantly different from the other groups. Conclusion Fatigue/postexertional malaise was found in all cases of LC, and the electrophysiological findings did not indicate the muscle fiber or the NMJ as a relevant factor in this condition.

Abstract in English:

ABSTRACT Background Visual atrophy scales from the medial temporal region are auxiliary biomarkers of neurodegeneration in Alzheimer's disease (AD). Therefore, they may correlate with progression from cognitively unimpaired (CU) status to mild cognitive impairment (MCI) and AD, and they become a valuable tool for diagnostic accuracy. Objective To compare the medial temporal lobe atrophy (MTA) and entorhinal cortex atrophy (ERICA) scores measured through magnetic resonance image (MRI) scans as a useful method for probable AD diagnosis regarding clinical diagnosis and amyloid positron-emission tomography (PET). Methods Two neurologists blinded to the diagnoses classified 113 older adults (age > 65 years) through the MTA and ERICA scores. We investigated the correlations involving these scores and sociodemographic data, amyloid brain cortical burden measured through PET imaging with (11)C-labeled Pittsburgh Compound-B (11C-PIB PET), and clinical cognitive status, in individuals diagnosed as CU (CU; N = 30), presenting mild cognitive impairment (MCI, N = 52), and AD patients (N = 31). Results The inter-rater reliability of the atrophy scales was excellent (0.8–1) according to the Cohen analysis. The CU group presented lower MTA scores (median value: 0) than ERICA (median value: 1) scores in both hemispheres. The 11C-PIB-PET was positive in 45% of the sample. In the MCI and AD groups, the ERICA score presented greater sensitivity, and the MTA score presented greater specificity. The accuracy of the clinical diagnosis was sufficient and no more than 70% for both scores in AD. Conclusion In the present study, we found moderate sensitivity for the ERICA score, which could be a better screening tool than the MTA score for the diagnosis of AD or MCI. However, none of the scores were useful imaging biomarkers in preclinical AD.

Abstract in English:

Abstract Background Temporal lobe epilepsy (TLE) predisposes individuals to cognitive difficulties and psychosocial consequences. Evaluating its impact on quality of life (QOL) is essential for patient care. Objective To identify factors influencing QOL in low-income patients with TLE. Methods An institution-based cross-sectional study was conducted on 40 patients with TLE during neurological consultations at a day clinic in Agadir, Morocco. The Quality of Life in Epilepsy Inventory-31 (QOLIE-31) was used to measure QOL. Multivariate linear regression analysis was performed to assess the associations between QOL and demographic, clinical, psychiatric, social, and cognitive variables. Results were considered statistically significant at a p-value < 0.05. Results The mean overall QOL score was 48.14 ± 22.02. Among the seven scales of the QOLIE-31, the Seizure Worry scale had the lowest mean score. Cognitive function, social support, and self-esteem were positively associated with QOL. In contrast, memory complaints, seizure duration, seizure frequency, anxiety, and depression were negatively associated with QOL. Conclusion While current interventions primarily target seizure control, our findings emphasize the need for holistic approaches that address both cognitive and psychosocial challenges to optimize QOL.

Abstract in English:

Abstract Alzheimer's disease (AD), diabetic cognitive impairment (DCI), and vascular dementia (VD) are considered the most common causes of severe cognitive impairment in clinical practice. Numerous factors can influence their progression, and many studies have recently revealed that metabolic disorders play crucial roles in the progression of cognitive impairment. Mounting evidence indicate that the regulation of lipid metabolism is a major factor in maintaining brain homeostasis. Generally, abnormalities in lipid metabolism can affect amyloid-beta (Aβ) deposition, tau hyperphosphorylation, and insulin resistance through lipid metabolic signaling cascades; affect the neuronal membrane structure, neurotransmitter synthesis and release; and promote synapse growth, which can impact neural signal transmission and exacerbate disease progression in individuals with cognitive impairment, including AD, DCI, and VD. Moreover, apolipoprotein E (APOE), a key protein in lipid transport, is involved in the occurrence and development of the aforementioned diseases by regulating lipid metabolism. The present article mainly discusses how lipid metabolic disorders in the brain microenvironment are involved in regulating the progression of cognitive impairment, and it explores the regulatory effects of targeting the key lipid transport protein APOE in the context of the role of lipid metabolism in the common pathogenesis of three diseases—Aβ deposition, tau hyperphosphorylation, and insulin resistance—which will help elucidate the potential of targeting lipid metabolism for the treatment of cognitive impairment.

Abstract in English:

Abstract: Status epilepticus (SE) is the most severe presentation of epilepsy. Currently, SE is defined according to 2 sequential time frames: time 1, after which it is unlikely that the seizure will resolve spontaneously, therefore requiring the initiation of therapy; and time 2, when long-term consequences become more likely. For convulsive SE, these time frames are well defined: 5 minutes for time 1 and 30 minutes for time 2. "Time is brain" in the treatment of SE, as delays in diagnosis and treatment are associated with worse outcomes. After clinical stabilization, the first step is the administration of intravenous (IV) benzodiazepines. Rapid initiation of treatment and use of appropriate dosing are more important than the selection of a specific benzodiazepine. Following this, treatment continues with the use of an IV antiseizure medication (ASM). In Brazil, the recommended options available are phenytoin and levetiracetam. Status epilepticus is considered refractory to treatment if seizures persist after the administration of benzodiazepines and IV ASM. The cornerstone of this stage is the induction of therapeutic coma using IV anesthetic drugs (IVADs), although evidence is limited regarding the choice among midazolam, propofol, or barbiturates. Super-refractory SE is defined when seizures persist despite continuous infusion of IVADs or recur after these drugs are tapered. There is very limited data regarding the treatment of super-refractory SE. In the absence of randomized controlled trials, treatment should be guided by the physician's experience, clinical judgment, and established therapeutic options from previous reports.

Abstract in English:

Abstract The treatment of Parkinson's disease (PD) is a challenge, especially because it is considered highly individualized. The Brazilian Academy of Neurology (ABN) has identified the need to disseminate knowledge about its management, adapting the best evidence to the Brazilian population. The present article aims to report the recommendations for the treatment of non-motor symptoms of PD, developed by a group of specialists in movement disorders from the ABN's scientific department. In 2021, the first part, referring to the motor symptoms of PD, was published. The main non-motor symptoms were addressed—among them neuropsychiatric symptoms, such as depression, anxiety, cognitive alteration, and psychosis—as well as the possible recommended therapies and medications used to control pain, sleep disorders, and dysautonomia.

Abstract in Portuguese:

Resumo Os pioneiros da Neurologia no Japão foram os professores Hiroshi Kawahara e Kinnosuke Miura. Kawahara publicou a primeira descrição de paralisia bulbar progressiva e escreveu o primeiro livro-texto de Neurologia no Japão. Já Miura publicou estudos sobre esclerose lateral amiotrófica, além de participar da fundação da Sociedade Japonesa de Neurologia. A influência da Neurologia europeia, particularmente francesa e alemã, nas figuras dos Professores Jean-Martin Charcot e Erwin Bälz foi fundamental na consolidação da Neurologia no Japão.

Abstract in English:

Abstract The pioneers of neurology in Japan were professors Hiroshi Kawahara and Kinnosuke Miura. Kawahara published the first description of progressive bulbar palsy and wrote the first neurology textbook in Japan. Miura, on the other hand, published studies about amyotrophic lateral sclerosis, in addition to participating in the founding of the Japanese Society of Neurology. The influence of European neurology, particularly French and German, in the figures of Professor Jean-Martin Charcot and Professor Erwin Bälz, was fundamental in the consolidation of neurology in Japan.

Abstract in English:

ABSTRACT Erdheim-Chester disease (ECD) is a rare histiocytic disorder that poses diagnostic and therapeutic challenges. Neurological manifestations are characterized by involvement of the meninges, brainstem, and/or cerebellum, and the differential diagnoses include sarcoidosis, IgG4 related disorders, autoimmune encephalitis, and high-risk syndromes. While present in a significant proportion of cases, neurological involvement is a predictor of mortality and may be the sole manifestation of the disease. In this paper, we discuss recent updates in histiocytic disorders and complementary diagnostic approaches, including positron-emission tomography-computed tomography (PET-CT), as guidance for biopsy in patients with neurological symptoms. Additionally, we explore how clinicians can interpret biopsy findings in conjunction with immunohistochemistry to guide targeted therapies, such as vemurafenib, for BRAF V600E mutation.