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Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects the upper and lower motor neurons. The correct diagnosis at the onset of the disease is sometimes very difficult, due to the symptoms being very similar to those of other neurological syndromes. Objective This study aimed to analyze the initial manifestations, the specialty of the first physician visited due the initial complaint, the misdiagnoses, as well as the unnecessary surgical interventions in a new ALS Brazilian population. Methods The medical records of 173 patients with typical ALS were reviewed. Results The present study demonstrated that other symptoms, besides weakness, were very frequent as initial presentation of ALS, and orthopedics was the medical specialty most sought by patients at the onset of symptoms. Our frequency of misdiagnoses was 69.7%, and in 7.1% of them, an unnecessary surgical intervention was performed. Conclusions Amyotrophic lateral sclerosis presents a very large pool of signs and symptoms; therefore, there is an urgent need of increasing the disease awareness to other specialties due to the high frequency of misdiagnoses observed in clinical practice. Resumo Antecedentes A esclerose lateral amiotrófica (ELA) é uma doença neurodegenerativa que afeta os neurônios motores superior e inferior. O diagnóstico correto no início da doença é, às vezes, muito difícil, pois os sintomas de início são muito semelhantes aos de outras síndromes neurológicas. Objetivo Este estudo teve como objetivo analisar as manifestações iniciais, a especialidade do primeiro médico visitado devido à queixa inicial, os diagnósticos errôneos, bem como as intervenções cirúrgicas desnecessárias em uma nova população brasileira acometida por ELA. Métodos Os prontuários médicos de 173 pacientes com ELA típica foram revisados. Resultados O presente estudo demonstrou que outros sintomas, além da fraqueza, foram muito frequentes como apresentação inicial da ELA, sendo a ortopedia a especialidade médica mais procurada pelos pacientes no início dos sintomas. Nossa frequência de diagnósticos errôneos foi de 69,7%, e em 7,1% deles foi realizada intervenção cirúrgica desnecessária. Conclusões A ELA apresenta um conjunto amplo de sinais e sintomas; portanto, há necessidade urgente de uma melhor educação de outras especialidades devido à alta frequência de diagnósticos equivocados observada na prática clínica.

Background: The “1/3″ brain magnetic resonance imaging (MRI) criteria including 1) a lesion adjacent to the lateral ventricle and in the inferior temporal lobe, or 2) a juxtacortical lesion, or 3) a Dawson finger-type lesion were shown to distinguish multiple sclerosis (MS) from antibody-mediated conditions. In this large multicentre study, we aimed to assess how the criteria perform 1) in different onset phenotypes, 2) distinct ethnic groups, 3) when the absence of myelin oligodendrocyte glycoprotein antibody (MOG-Ab)-associated disease (MOGAD)-typical fluffy infratentorial (FIT) lesions and longitudinally extensive transverse myelitis (LETM) lesions are added as features (“2/4″ and 3/5″ criteria, respectively). Methods: 577 patients with MS (n = 332), aquaporin-4 antibody (AQP4-Ab) neuromyelitis optica spectrum disorder (NMOSD) (n = 196) and MOGAD (n = 49) were recruited from 6 international centres (Buenos Aires, Sao Paolo, Maracaibo, Goyang, Oxford and Milan). Imaging scans were obtained at disease onset or relapse. Results: Adding the absence of FIT lesions increased the specificity of the “1/3″ criteria vs. AQP4-Ab NMOSD from 84.7% to 87.2% and vs. MOGAD from 85.7% to 93.9% without compromising their sensitivity (86%). In particular, for those presenting with brain/brainstem attacks “2/4″ had significantly higher specificity than “1/3″ (85% vs. 80% against AQP4-Ab NMOSD, 88.9% vs. 72.2% against MOGAD). Positive predictive values of the “1/3″ criteria for MS were lowest for Asian patients (84.8 vs. 99.1% for White) but were significantly increased by adding further criteria (94.1% for “3/5″). Conclusion: The “1/3″ criteria perform well in discriminating MS from NMOSD and MOGAD regardless of ethnic background and clinical scenario. Adding the absence of FIT lesions increases the specificity in those presenting with brain/brainstem symptoms.

Background: The Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) has been recently developed as a brief, practical, and feasible tool for cognitive impairment in multiple sclerosis (MS). Objective: This study aimed to provide continuous and discrete normative values for the BICAMS in the Brazilian context. Methods: Normatization was achieved using six hundred and one healthy controls from the community assessed at five Brazilian geopolitical regions. Results: Mean raw scores, T scores, percentiles, and Z scores for each BICAMS measure are provided, stratified by age and educational level. Regression-based norms were provided by converting raw scores to scaled scores, which were regressed on age, gender, and education, yielding equations that can be used to calculate the predicted scores. Regression analyses revealed that age, gender, and education significantly influenced test results, as in previous studies. Conclusions: The normative data of the BICAMS to the Brazilian context presented good representativeness, improving its use in daily clinical practice. RESUMO Antecedentes: O BICAMS foi desenvolvido como uma ferramenta breve, prática e confiável para avaliar o comprometimento cognitivo na esclerose múltipla (EM). Objetivo: Neste estudo, objetivamos fornecer dados normativos para o BICAMS. Métodos: Normatização foi realizada com seiscentos e um controles saudáveis da comunidade avaliados das cinco regiões geopolíticas brasileiras. Resultados: Escores brutos médios, escore T, percentil e escore Z para cada medida do BICAMS são fornecidos e estratificados por idade e nível educacional. Normas baseadas em regressão foram obtidas através da conversão dos pontos brutos em pontos ponderados, produzindo parâmetros de regressão que podem ser usados para calcular os escores preditos. As análises de regressão revelaram que idade, gênero e educação influenciaram significativamente nos resultados do teste, assim como em estudos prévios. Conclusão: Normas do BICAMS para o contexto brasileiro apresentaram boa representatividade, contribuindo para a utilização na prática clínica diária.

BACKGROUND AND PURPOSE Optic neuritis (ON) is often the initial symptom of neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein-associated disease (MOGAD). We aimed to compare the frequency and pattern of chiasmatic lesions in MOGAD-related ON (MOGAD-ON) and NMOSD-related ON (NMOSD-ON) using conventional brain imaging (magnetic resonance imaging [MRI]) in Latin America (LATAM). METHODS We reviewed the medical records and brain MRI (≤30 days from ON onset) of patients with a first event of MOGAD-ON and NMOSD-ON. Patients from Argentina (n = 72), Chile (n = 21), Ecuador (n = 31), Brazil (n = 30), Venezuela (n = 10) and Mexico (n = 82) were included. Antibody status was tested using a cell-based assay. Demographic, clinical, imaging and prognostic (as measured by the Visual Functional System Score [VFSS] of the Expanded Disability Status Scale) data were compared. RESULTS A total of 246 patients (208 NMOSD and 38 MOGAD) were included. No differences were found in gender and ethnicity between the groups. We observed chiasmatic lesions in 66/208 (31.7%) NMOSD-ON and in 5/38 (13.1%) MOGAD-ON patients (p = 0.01). Of these patients with chiasmatic lesions, 54/66 (81.8%) and 4/5 had associated longitudinally extensive optic nerve lesions, 45/66 (68%) and 4/5 had bilateral lesions, and 31/66 (47%) and 4/5 showed gadolinium-enhancing chiasmatic lesions, respectively. A positive correlation was observed between VFSS and presence of bilateral (r = 0,28, p

Background Few studies regarding MRI-defined acute optic nerve lesions (aONL) in patients with first-ever neuromyelitis optica spectrum disorder (NMOSD)-related optic neuritis (ON) have been reported worldwide and none of them was conducted in Latin America (LATAM). Therefore, we aimed to assess the frequency of aONL at disease onset using conventional brain MRI in LATAM. Methods We reviewed the medical records and brain MRIs (≤30 days from ON onset) of patients with ON as first lifetime NMOSD attack. Patients from Argentina (n=48), Ecuador (n=24), Brazil (n=22), Venezuela (n=10) and Mexico (n=8) were included, and further divided into two subgroups according to either presence (P-MRI) or absence (A-MRI) of aONL (T2 hyperintensity and/or contrast enhancement). Clinical, paraclinical, imaging and prognostic data were compared. Results A total of 112 patients were included and aONL were found in 86 (76.7%) at disease onset. Aquaporin-4 antibodies were detected in 69.6%. Non-Caucasian patients comprised 59.8% of the total cohort. In P-MRI, conventional brain MRI showed isolated or combined unilateral (54.4%, [8.5% of these aONL were associated with chiasmatic lesions]) and bilateral (46.6%, [35.9% of these aONL were associated with chiasmatic lesions]) lesions. Thus, 100% of chiasmatic lesions were associated with unilateral or bilateral lesions. No statistically significant differences were found in age, gender, ethnicity, clinical course, mean follow-up time, disability, and spinal cord MRI findings. However, rituximab use was higher in P-MRI than in A-MRI (p=0.006). Conclusions More than three quarters of LATAM patients with first-ever NMOSD-related ON have aONL detected by brain MRI. Unilateral lesions were the most common finding. Further studies including different ethnicities are needed to assess the generalizability of our results.

Multiple sclerosis (MS) management presently aims to reach a state of no (or minimal) evidence of disease activity. The development and commercialization of new drugs has led to a renewed interest in family planning, since patients with MS may face a future with reduced (or no) disease-related neurological disability. The advice of neurologists is often sought by patients who want to have children and need to know more about disease control at conception and during pregnancy and the puerperium. When MS is well controlled, the simple withdrawal of drugs for patients who intend to conceive is not an option. On the other hand, not all treatments presently recommended for MS are considered safe during conception, pregnancy and/or breastfeeding. The objective of the present study was to summarize the practical and evidence-based recommendations for family planning when our patients (women and men) have MS. Funding TEVA Pharmaceutical Brazil.

We aimed to assess the clinical, paraclinical, imaging and prognostic features of patients with late-onset neuromyelitis optica spectrum disorder (LO-NMOSD; ≥ 50 years at disease onset) LO-NMOSD, compared with early onset-NMOSD (EO-NMOSD, ≤ 49 years at disease onset), in Latin American (LATAM). We retrospectively reviewed the medical records of patients with NMOSD, as defined using the 2015 validated diagnostic criteria. We included patients from Argentina, Brazil and Venezuela. They were divided into: LO-NMOSD and EO-NMOSD and comparison among the groups were performed. Among these 140 NMOSD patients, 24 (17.1%) were LO-NMOSD; 64% were positive for aquaporin-4 antibodies; and 41.5% of this population cohort was non-Caucasian. Severe disability [expanded disability status scale (EDSS) ≥ 6] at the last follow-up and presence of comorbidities were significantly associated with LO-NMOSD, compared with EO-NMOSD. LO-NMOSD patients had a shorter median time to EDSS ≥ 4 than EO-NMOSD patients (46 vs. 60 months; log-rank test p = 0.0006). Furthermore, we observed a positive correlation between age at onset and EDSS score at the last follow-up (Spearman r = 0.34, p

INTRODUCTION There is scarce evidence comparing the behavior in magnetic resonance (MRI) between positive and negative aquaporin-4 antibody neuromyelitis optica spectrum disorders (P-NMOSD and NNMOSD, respectively). The aim of this study was to describe and compare MRI features through a quantitative and qualitative analysis between P-NMOSD and NNMOSD patients in a cohort from Latin American (LATAM) patients. METHODS We retrospectively reviewed the MRI and medical records of NMOSD patients as defined by the 2015 validated diagnostic criteria, and with at least 3 years of follow-up from disease onset (first symptom). We included patients from Argentina, Brazil and Venezuela. To be included, NMOSD patients must have had AQP4-ab status measured by a cell-based assay. Brain MRIs were obtained for each participant at disease onset and every 12 months for 3 years. Demographics, clinical and MRI variables (T2 lesion volume [T2LV], lesion distribution, cortical thickness [CT] and percentage of brain volume loss [PBVL]) were analyzed and compared between groups (P-NMOSD; NNMOSD) at disease onset and follow-up. A multiple sclerosis (MS) control group of patients was also included. RESULTS We included 24 P-NMOSD, 15 NNMOSD and 35 MS patients. No differences in age, gender and follow-up time were observed between groups. Nor were differences found in lesion distribution at disease onset or in brain volumes during follow-up between P-NMOSD and NNMOSD patients (T2LV = 0.43, CT = 0.12, PBVL p = 0.45). Significant differences were observed in lesion distribution at disease onset, as well as in brain volumes during follow-up between NMOSD and MS (T2LV = p

Background During the last two decades, neuromyelitis optica spectrum disorder (NMOSD) has undergone important changes, with new diagnostic markers and criteria, better recognition of clinical phenotypes, better disease prognosis and new therapeutic approaches. Consequently, management of NMOSD patients in Latin American (LATAM) has become more complex and challenging in clinical practice. In making these consensus recommendations, the aim was to review how the disease should be managed and treated among LATAM patients, in order to improve long-term outcomes in these populations. Methods A panel of LATAM neurologists who are experts in demyelinating diseases and dedicated to management and care of NMOSD patients gathered virtually during 2019 and 2020 to make consensus recommendations on management and treatment of NMOSD patients in LATAM. To achieve this consensus, the RAND/UCLA methodology for reaching formal consensus was used. Results The recommendations focused on diagnosis and differential diagnoses, disease prognosis, tailored treatment, identification of suboptimal treatment response and special circumstances management. They were based on published evidence and expert opinions. Conclusions The recommendations of these consensus guidelines seek to optimize management and specific treatment of NMOSD patients in LATAM

Made available in DSpace on 2018-11-26T22:40:49Z (GMT). No. of bitstreams: 0 Previous issue date: 2018-08-01. Added 1 bitstream(s) on 2019-10-09T18:27:56Z : No. of bitstreams: 1 S0004-282X2018000800539.pdf: 336862 bytes, checksum: 861f2018734ed5dc938f69878cf50b6e (MD5) Biogen Idec Genzyme Merck Novartis Rocha Teva Roche Sanofi-Genzyme World Federation of Neurology European Committee on Treatment and Research in Multiple Sclerosis Biogen Schering Biogen Indec Merck-Serono Teva (EMOCEMP Study-NCT) Euroimmun AG Shire Quest/Athena Diagnostics Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Bayer Partners MS Center, Harvard Medical School Distrito Federal Research Foundation (FAP-DF) Libbs Sanofi Serono Teva Pharmaceuticals Sonofi-Genzyme Novartis-PPD Merck Serono Bayer Health Care Ipsen Sanofi Genzyme The expanding therapeutic arsenal in multiple sclerosis (MS) has allowed for more effective and personalized treatment, but the choice and management of disease-modifying therapies (DMTs) is becoming increasingly complex. In this context, experts from the Brazilian Committee on Treatment and Research in Multiple Sclerosis and the Neuroimmunology Scientific Department of the Brazilian Academy of Neurology have convened to establish this Brazilian Consensus for the Treatment of MS, based on their understanding that neurologists should be able to prescribe MS DMTs according to what is better for each patient, based on up-to-date evidence and practice. We herein propose practical recommendations for the treatment of MS, with the main focus on the choice and management of DMTs, as well as present a review of the scientific rationale supporting therapeutic strategies in MS. Univ Sao Paulo, Fac Med Ribeirao Preto, Hosp Clin Ribeirao Preto, Ribeirao Preto, SP, Brazil Pontificia Univ Catolica Rio Grande do Sul, Porto Alegre, RS, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Sao Paulo, SP, Brazil Univ Fed Minas Gerais, Ctr Invest Esclerose Multipla Minas Gerais, Belo Horizonte, MG, Brazil Univ Jose Rosario Vellano, Belo Horizonte, MG, Brazil Univ Fed Estado Rio de Janeiro, Rio De Janeiro, RJ, Brazil Hosp Restauracao, Recife, PE, Brazil Clin Goncalves Dias, Curitiba, Parana, Brazil Univ Estadual Campinas, Campinas, SP, Brazil Clin Privada, Cuiaba, MT, Brazil Hosp Sao Rafael, Salvador, BA, Brazil Univ Fed Fluminense, Niteroi, RJ, Brazil Fundacac Ctr Integrado Apoio Portador Deficiencia, Joao Pessoa, Paraiba, Brazil Univ Brasilia, Brasilia, DF, Brazil Univ Catolica Brasilia, Brasilia, DF, Brazil Santa Casa Misericordia Londrina, Londrina, PR, Brazil Univ Fed Goias, Fac Med, Goiania, Go, Brazil Clin Neurol & Endocrinol, Brasilia, DF, Brazil Univ Estadual Paulista, Sao Paulo, SP, Brazil Inst Neurol Curitiba, Curitiba, Parana, Brazil Univ Regiao Joinville, Joinville, SC, Brazil Univ Fed Amazonas, Hosp Univ Getulio Vargas, Manaus, Amazonas, Brazil Pontificia Univ Catolica Sao Paulo, Sorocaba, SP, Brazil Senne Liquor Diagnost, Sao Paulo, SP, Brazil Hosp Cruz Azul, Sao Paulo, SP, Brazil Fac Sao Leopoldo Mandic, Campinas, SP, Brazil Hosp Israelita Albert Einstein, Sao Paulo, SP, Brazil Univ Fed Uberlandia, Uberlandia, MG, Brazil Hosp Base Dist Fed, Brasilia, DF, Brazil Imperial Hosp Caridade, Florianopolis, SC, Brazil Escola Bahiana Med & Saude Publ, Salvador, BA, Brazil Univ Estadual Paulista, Sao Paulo, SP, Brazil Teva (EMOCEMP Study-NCT): 61080516.4.1001.5336

The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS. RESUMO A neuropatia hereditária com susceptibilidade à pressão (HNPP) é uma doença autossômica dominante que manifesta mononeuropatias recorrentes. Objetivo Avaliar as características clínicas e os estudos da condução nervosa (ECN) procurando particularidades diagnósticas. Método Revisamos as características clínicas de 39 e os ECN de 33 pacientes. Resultados História familiar ausente em 16/39 (41%). As manifestações iniciais foram: fraqueza em 24, dor em 6, déficit sensitivo em 5 e parestesias em 4. Dor foi referida por outros 3 pacientes. Os seguintes padrões de neuropatia foram observados: mononeuropatia múltipla (26), mononeuropatia (6), polineuropatia sensitivo-motora (4), polineuropatia sensitiva (1) e plexopatia braquial unilateral (1). Os ECN mostraram uma neuropatia sensitivo-motora com redução focal da velocidade de condução em 31, dois tinham mononeuropatia e outro plexopatia braquial. Conclusão A apresentação da HNPP é variável e pode incluir dor. O padrão mais frequente é o de uma neuropatia sensitivo-motora assimétrica com alentecimentos focais da condução em topografias específicas nos ECN.

Background There have been no clinical trials for approval of medications for treating multiple sclerosis in patients younger than age 18 years. All treatments are based on personal experience and data from open observational studies. Fingolimod is an oral drug for multiple sclerosis that has been shown to be efficient and safe in adults. The aim of our study is to describe patients with multiple sclerosis who started treatment with fingolimod before the age of 18 years. Participants and methods Seventeen patients treated with fingolimod were identified in the Brazilian database of children and adolescents with multiple sclerosis. The average time of use of the drug was 8.6 months. Results Fingolimod showed a good safety and efficacy profile in these patients, all of whom had very active multiple sclerosis. After starting treatment with fingolimod, only one patient had a relapse and a new lesion on magnetic resonance imaging. The patients' degree of disability did not progress. No major adverse events were reported in relation to the first dose of the drug, nor in the short- and medium-term treatment. No patient has been followed for longer than 18 months, thus limiting long-term conclusions. Conclusions Off-label use of fingolimod in patients younger than age 18 years may be a good therapeutic option for multiple sclerosis control.

The familial amyloidotic polyneuropathies (FAP) are autosomal dominant, length-dependent, axonal neuropathies first described in Portugal in 19581. They were later shown to be heterogeneous, resulting from tissue deposition of abnormal variants of physiological proteins, including transthyretin (TTR), apolipoprotein-A1 and gelsolin1,2 […] Clinical and electrophysiological correlates of TTRala71 amyloid neuropathy

The vesicle-associated membrane protein/synaptobrevin-associated membrane protein B (VAPB) Pro56Ser mutation has been identified in Brazilian families showing various motor neuron syndromes. However, the neurophysiological characteristics of these patients have not been detailed, and some questions still need to be solved, such as the possible presence of myotonia and the origin of the abdominal protrusion seen in most patients. The eventual finding of suggestive electrophysiological characteristics would be helpful not only for clinical diagnosis but also to selection of the appropriate DNA test. To clarify these questions we carried out sensory and motor conduction studies, including sympathetic skin response, and needle examination in six genetically proven affected members. The electromyographic findings were those of a slowly progressive motor neuron disorder. Topographically, the abdominal muscles were severely affected, but the facial and laryngeal muscles were preserved or very mildly involved. Sensory conduction studies and sympathetic skin responses were normal. No myotonic discharge was recorded. These findings are indistinguishable from those of other motor neuron disorders, although the predominant involvement of the proximal limbs and of the abdominal muscles may be of some help in the appropriate clinical setting.