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The spectrum of neuropsychiatric phenomena observed in amyotrophic lateral sclerosis (ALS) is wide and not fully understood. Disorders of laughter and crying stand among the most common manifestations. The aim of this study is to report the results of an educational consensus organized by the Brazilian Academy of Neurology to evaluate the definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in ALS patients. Twelve members of the Brazilian Academy of Neurology - considered to be experts in the field - were recruited to answer 12 questions about the subject. After exchanging revisions, a first draft was prepared. A face-to-face meeting was held in Fortaleza, Brazil on 9.23.22 to discuss it. The revised version was subsequently emailed to all members of the ALS Scientific Department from the Brazilian Academy of Neurology and the final revised version submitted for publication. The prevalence of pseudobulbar affect/pathological laughter and crying (PBA/PLC) in ALS patients from 15 combined studies and 3906 patients was 27.4% (N = 1070), ranging from 11.4% to 71%. Bulbar onset is a risk factor but there are limited studies evaluating the differences in prevalence among the different motor neuron diseases subtypes, including patients with and without frontotemporal dementia. Antidepressants and a combination of dextromethorphan and quinidine (not available in Brazil) are possible therapeutic options. This group of panelists acknowledge the multiple gaps in the current literature and reinforces the need for further studies.

Peripheral neuropathy (PN) is frequently observed in systemic rheumatic diseases and is a challenge in clinical practice. We aimed to review the evidence on the subject and proposed a comprehensive approach to these patients, facilitating diagnosis and management. We searched the MEDLINE database for the terms (and its respective Medical Subject Headings (MeSH) terms): “peripheral neuropathy” AND “rheumatic diseases” OR “systemic lupus erythematosus”, “rheumatoid arthritis”, “Sjogren syndrome”, and “vasculitis” from 2000 to 2023. This literature review focuses on the diagnostic workup of PNs related to systemic lupus erythematosus, Sjögren’s syndrome, rheumatoid arthritis, and systemic vasculitis. For every type of PN, we provide a pragmatic flowchart for diagnosis and also describe evidence-based strategies of treatment.

ABSTRACT Purpose: to identify the knowledge produced in national and international researches on speech and language disorders in Amyotrophic Lateral Sclerosis, regarding the type of research and approach in different areas. Methods: an integrative review performed on databases, using the following descriptors: Amyotrophic Lateral Sclerosis, Dysarthria, Language Disorders, Speech Production Measurement and Speech Disorders. The inclusion criteria covered articles that addressed motor speech and language disorders from 2013 to 2018, excluding duplications, and categorizing valid articles for analysis. Results: 83 articles were selected, after screening the titles and abstracts. A large scientific production from different countries and areas, mainly Speech Therapy and Neurology, was found. Most of them was clinical research (65.06%), with a main focus on speech motor disorders (42.16%), speech and language motor disorders, cognition and behavior (27.71%), and language disorders (12.06%). Conclusion: researches found were mostly clinical and aimed at determining the diagnosis of disorders in different areas of knowledge. With regard to communication, few studies have been found in Brazil, and international studies addressed high technology. The results confirmed the heterogeneous nature of the disease, which shows, in addition to motor impairment of speech, cognitive, behavioral and language impairments.

RESUMO Objetivo Avaliar a inteligibilidade de fala e disartria, correlacionando com a avaliação funcional da ELA. Método Estudo quantitativo-descritivo aprovado pelo CEP, sob nº CAAE 62912416.4.0000.5404, constituído por 19 pessoas com ELA, esporádica ou familiar. Para coleta, aplicou-se o Protocolo de Disartria e Escala de Avaliação Funcional da Esclerose Lateral Amiotrófica (ALSFRS-Re). Para análise, foi utilizada escala visual analógica para inteligibilidade de fala e medidas de resumo e correlação dos instrumentos pelo Coeficiente de Spearman com nível de significância de 5%. Resultados A inteligibilidade de fala está comprometida (41,37±39,73) em graus variados com correlação positiva com o grau geral de disartria (p=

Diagnostic imaging techniques play an important role in assessing the exact location, cause, and extent of a nerve lesion, thus allowing clinicians to diagnose and manage more effectively a variety of pathological conditions, such as entrapment syndromes, traumatic injuries, and space-occupying lesions. Ultrasound and nuclear magnetic resonance imaging are becoming useful methods for this purpose, but they still lack spatial resolution. In this regard, recent phase contrast x-ray imaging experiments of peripheral nerve allowed the visualization of each nerve fiber surrounded by its myelin sheath as clearly as optical microscopy. In the present study, we attempted to produce high-resolution x-ray phase contrast images of a human sciatic nerve by using synchrotron radiation propagation-based imaging. The images showed high contrast and high spatial resolution, allowing clear identification of each fascicle structure and surrounding connective tissue. The outstanding result is the detection of such structures by phase contrast x-ray tomography of a thick human sciatic nerve section. This may further enable the identification of diverse pathological patterns, such as Wallerian degeneration, hypertrophic neuropathy, inflammatory infiltration, leprosy neuropathy and amyloid deposits. To the best of our knowledge, this is the first successful phase contrast x-ray imaging experiment of a human peripheral nerve sample. Our long-term goal is to develop peripheral nerve imaging methods that could supersede biopsy procedures.

ABSTRACT Spontaneous intracranial hypotension (SIH) is a syndrome that was unknown until the advent of magnetic resonance imaging (MRI). It is a cause of orthostatic headache, which remains underdiagnosed and, rarely, can result in several complications including dural venous sinus thrombosis, subdural hematoma and subarachnoid hemorrhage. Some of these complications are potentially life-threatening and should be recognized promptly, mainly by imaging studies. We reviewed the MRI of nine patients with SIH and describe the complications observed in three of these patients. Two of them had subdural hematoma and one had a dural venous sinus thrombosis detected by computed tomography and MRI. We concluded that MRI findings are of great importance in the diagnosis of SIH and its complications, which often influence the clinical-surgical treatment of the patient.

ABSTRACT Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features. An important proportion of SCAs are caused by CAG trinucleotide repeat expansions in the coding region of different genes. In addition to genetic heterogeneity, clinical features transcend motor symptoms, including cognitive, electrophysiological and imaging aspects. Despite all the progress in the past 25 years, the mechanisms that determine how neuronal death is mediated by these unstable expansions are still unclear. The aim of this article is to review, from an historical point of view, the first CAG-related ataxia to be genetically described: SCA 1.

ABSTRACT Transaxonal degenerations result from neuronal death or the interruption of synaptic connections among neuronal structures. These degenerations are not common but may be recognized by conventional magnetic resonance imaging. Objective: The learning objectives of this review include recognition of the imaging characteristics of transaxonal degenerations involving cerebellar connections, the identification of potential encephalic lesions that can lead to these degenerations and correlation of the clinical manifestations with imaging findings that reflect this involvement. Methods: In this report, we review the neuroanatomical knowledge that provides a basis for identifying potential lesions that can result in these degenerations involving cerebellar structures. Results: Hypertrophic olivary degeneration results from an injury that interrupts any of the components of the Guillain-Mollaret triangle. In this work, we describe cases of lesions in the dentate nucleus and central tegmental tract. The crossed cerebellar diaschisis presents specific imaging findings and clinical correlations associated with its acute and chronic phases. The Wallerian degeneration of the middle cerebellar peduncle is illustrated by fiber injury of the pontine cerebellar tracts. A T2-hyperintensity in the dentate nucleus due to a thalamic acute lesion (in ventral lateral nuclei) is also described. Each condition described here is documented by MRI images and is accompanied by teaching points and an anatomical review of the pathways involved. Conclusion: Neurologists and radiologists need to become familiar with the diagnosis of these conditions since their presentations are peculiar and often subtle, and can easily be misdiagnosed as ischemic events, degenerative disease, demyelinating disease or even tumors.

Abstract Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In Brazil, the National Neonatal Screening Program tests for six diseases, with a new law issued in 2021 stating that it should incorporate more diseases, including SMA. In the present study, dried blood spot (DBS) samples collected by the Reference Services of Neonatal Screening of RS and SP, to perform the conventional test were also screened for SMA, using real-time PCR, with SALSA MC002 technique. A total of 40,000 samples were analyzed, enabling the identification of four positive cases of SMA, that were confirmed by MLPA. Considering our sampling, Brazil seems to have an incidence comparable to the described in other regions. This work demonstrated that the use of the MC002 technique in samples routinely collected for the conventional NBS program is suitable to screen for SMA in our conditions and can be included in the expansion of the neonatal screening programs.

ABSTRACT Since the late 19th century, when several inherited neurological disorders were described, the close relationship between Neurology and heredity were well documented by several authors in a pre-genetic era. The term Neurogenetics came to integrate two large sciences and clinical practices: Neurology and Genetics. Neurogenetics is the emerging field that studies the correlation between genetic code and the development and function of the nervous system, including behavioral traits, personality and neurological diseases. In this historical note, a timeline shows the main events and contributors since the first reports of neurogenetic diseases until the current days. In the recent years, neurologists are experiencing much broader use of new genetic diagnosis techniques in clinical practice. Thus, new challenges are arising in diagnostic approach, ethical considerations, and therapeutic options. This article aims to summarize the main historical hallmarks of Neurogenetics, from the pre-DNA era to the present, and the future directions of the field.

ABSTRACT Cannabinoids comprehend endocannabinoids, phytocannabinoids, and synthetic cannabinoids, with actions both in the central and peripherical nervous systems. A considerable amount of publications have been made in recent years, although cannabis has been known for over a thousand years. Scientific Departments from the Brazilian Academy of Neurology described evidence for medical use in their areas. Literature is constantly changing, and possible new evidence can emerge in the next days or months. Prescription of these substances must be discussed with patients and their families, with knowledge about adverse events and their efficacy.

Abstract Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment. Objective: To investigate the presence of nystagmus as an early neurological manifestation, before ataxia, in some patients with SCA3 in the first six months of the disease. Methods: We evaluated a series of 155 patients with clinically and molecularly proven SCA3 between 2013 and 2020. Data regarding sex, age, age at onset, disease duration, CAG repeat expansion length, first symptom, presence of ataxia, scores on SARA and ICARS scales, and presence and characteristics of nystagmus were collected. Results: We identified seven patients with symptomatic SCA3 who presented with isolated nystagmus. In these seven individuals the age at onset ranged from 24 to 57 years, and disease duration from four to six months. Conclusions: Our study showed that nystagmus may be the first neurological sign in SCA3. This clinical observation reinforces the idea that the neurodegenerative process in SCA3 patients may start in vestibular system connections or in flocculonodular lobe. This study adds relevant information about pre-symptomatic features in SCA3 that may work as basis for a better understanding of brain degeneration and for future therapeutic clinical trials.

ABSTRACT Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. Swallowing dysfunction is poorly studied in HSP and its presence can lead to significant respiratory and nutritional complications. Objectives: The aim of this study was to evaluate the frequency and clinical characteristics of dysphagia in different types of HSP. Methods: A two-center cross-sectional prevalence study was performed. Genetically confirmed HSP patients were evaluated using the Northwestern Dysphagia Patient Check Sheet and the Functional Oral Intake Scale. In addition, self-perception of dysphagia was assessed by the Eat Assessment Tool-10 and the Swallowing Disturbance Questionnaire. Results: Thirty-six patients with spastic paraplegia type 4 (SPG4), five with SPG11, four with SPG5, four with cerebrotendinous xanthomatosis (CTX), three with SPG7, and two with SPG3A were evaluated. Mild to moderate oropharyngeal dysphagia was present in 3/5 (60%) of SPG11 and 2/4 (50%) of CTX patients. A single SPG4 (2%) and a single SPG7 (33%) patient had mild oropharyngeal dysphagia. All other evaluated patients presented with normal or functional swallowing. Conclusions: Clinically significant oropharyngeal dysphagia was only present in complicated forms of HSP Patients with SPG11 and CTX had the highest risks for dysphagia, suggesting that surveillance of swallowing function should be part of the management of patients with these disorders.

The objective of this study was to evaluate if the ratio of ulnar sensory nerve action potential (SNAP) over compound muscle action potential (CMAP) amplitudes (USMAR) would help in the distinction between ganglionopathy (GNP) and polyneuropathy (PNP). Methods We reviewed the nerve conductions studies and electromyography (EMG) of 18 GNP patients, 33 diabetic PNP patients and 56 controls. GNP was defined by simultaneous nerve conduction studies (NCS) and magnetic resonance imaging (MRI) abnormalities. PNP was defined by usual clinical and NCS criteria. We used ANOVA with post-hoc Tukey test and ROC curve analysis to compare ulnar SNAP and CMAP, as well as USMAR in the groups. Results Ulnar CMAP amplitudes were similar between GNP x PNP x Controls (p=0.253), but ulnar SNAP amplitudes (1.6±3.2 x 11.9±9.1 × 45.7±24.7) and USMAR values (0.3±0.3 × 1.5±0.9 × 4.6±2.2) were significantly different. A USMAR threshold of 0.71 was able to differentiate GNP and PNP (94.4% sensitivity and 90.9% specificity). Conclusions USMAR is a practical and reliable tool for the differentiation between GNP and PNP.