Autoimmune encephalitis in a resource-limited public health setting: a case series analysis.

BACKGROUND: Autoimmune encephalitis (AE) consists of a group of acquired diseases that affect the central nervous system. A myriad of phenotypes may be present at the onset. Due to the heterogeneity of clinical presentations, it is difficult to achieve uniformity for the diagnostic and therapeutic processes and follow-up strategies. OBJECTIVE: To describe a series of patients diagnosed with AE in a resource-limited public hospital in southern Brazil and to analyze therapeutics and outcomes. METHODS: We retrospectively reviewed the electronic medical records of patients diagnosed with AE at the Hospital de Clínicas de Porto Alegre from 2014 to 2022. Data collected included clinical presentation, neuroimaging, cerebrospinal fluid testings, electroencephalogram, autoantibodies, treatments, outcomes, follow-up time, degree of neurological impairment, and mortality. RESULTS: Data from 17 patients were retrieved. Eleven cases were classified as definite AE and 6 as possible AE. Autoantibodies were identified in 9 patients. Timing for diagnosis was impacted by the high costs associated with autoantibody testing. Most patients became functionally dependent (82.4%) and most survivors remained with autoimmune-associated epilepsy (75%). Five patients died during hospitalization, and one after a 26-month of follow-up. CONCLUSION: In this resource-limited hospital, patients with AE had a worse clinical outcome than that previously described in the literature. Development of epilepsy during follow-up and mortality were greater, whilst functional outcome was inferior. Autoantibody testing was initially denied in most patients, which impacted the definitive diagnosis and the use of second-line therapies.

ANTECEDENTES: A encefalite autoimune (EA) consiste em um grupo de doenças adquiridas que afetam o sistema nervoso central. OBJETIVO: Descrever uma série de pacientes diagnosticados com EA em um contexto de atenção terciária à saúde com recursos limitados e analisar a terapêutica e os resultados. MéTODOS: Revisamos retrospectivamente os prontuários eletrônicos de pacientes diagnosticados com EA no Hospital de Clínicas de Porto Alegre de 2014 a 2022. Os dados coletados incluíram apresentação clínica, neuroimagem, exames de líquido cefalorraquidiano, eletroencefalograma, autoanticorpos, tratamentos, resultados, tempo de acompanhamento, grau de comprometimento neurológico e mortalidade. RESULTADOS: Dados de 17 pacientes foram coletados. Onze casos foram classificados como EA definitivo e seis como EA possível. Autoanticorpos foram identificados em nove pacientes. O tempo para o diagnóstico foi afetado pelos altos custos associados ao teste de autoanticorpos. A maioria dos pacientes tornou-se funcionalmente dependente (82,4%), e a maioria dos sobreviventes permaneceu com epilepsia autoimune associada (75%). Cinco pacientes faleceram durante a internação, e um após 26 meses de seguimento. CONCLUSãO: No hospital em questão, os pacientes com EA tiveram um desfecho clínico pior do que o previamente descrito na literatura. O desenvolvimento de epilepsia durante o acompanhamento e a mortalidade foram maiores, enquanto o desfecho funcional foi inferior. Os testes de autoanticorpos foram inicialmente negados para a maioria dos pacientes, o que impactou o diagnóstico definitivo e o uso de terapias de segunda linha.

Autoimmune encephalitis in a resource-limited public health setting: a case series analysis / Encefalite autoimune em um hospital universitário público: análise de uma série de casos

Abstract Background Autoimmune encephalitis (AE) consists of a group of acquired diseases that affect the central nervous system. A myriad of phenotypes may be present at the onset. Due to the heterogeneity of clinical presentations, it is difficult to achieve uniformity for the diagnostic and therapeutic processes and follow-up strategies. Objective To describe a series of patients diagnosed with AE in a resource-limited public hospital in southern Brazil and to analyze therapeutics and outcomes. Methods We retrospectively reviewed the electronic medical records of patients diagnosed with AE at the Hospital de Clínicas de Porto Alegre from 2014 to 2022. Data collected included clinical presentation, neuroimaging, cerebrospinal fluid testings, electroencephalogram, autoantibodies, treatments, outcomes, follow-up time, degree of neurological impairment, and mortality. Results Data from 17 patients were retrieved. Eleven cases were classified as definite AE and 6 as possible AE. Autoantibodies were identified in 9 patients. Timing for diagnosis was impacted by the high costs associated with autoantibody testing. Most patients became functionally dependent (82.4%) and most survivors remained with autoimmune-associated epilepsy (75%). Five patients died during hospitalization, and one after a 26-month of follow-up. Conclusion In this resource-limited hospital, patients with AE had a worse clinical outcome than that previously described in the literature. Development of epilepsy during follow-up and mortality were greater, whilst functional outcome was inferior. Autoantibody testing was initially denied in most patients, which impacted the definitive diagnosis and the use of second-line therapies.

Resumo Antecedentes A encefalite autoimune (EA) consiste em um grupo de doenças adquiridas que afetam o sistema nervoso central. Objetivo Descrever uma série de pacientes diagnosticados com EA em um contexto de atenção terciária à saúde com recursos limitados e analisar a terapêutica e os resultados. Métodos Revisamos retrospectivamente os prontuários eletrônicos de pacientes diagnosticados com EA no Hospital de Clínicas de Porto Alegre de 2014 a 2022. Os dados coletados incluíram apresentação clínica, neuroimagem, exames de líquido cefalorraquidiano, eletroencefalograma, autoanticorpos, tratamentos, resultados, tempo de acompanhamento, grau de comprometimento neurológico e mortalidade. Resultados Dados de 17 pacientes foram coletados. Onze casos foram classificados como EA definitivo e seis como EA possível. Autoanticorpos foram identificados em nove pacientes. O tempo para o diagnóstico foi afetado pelos altos custos associados ao teste de autoanticorpos. A maioria dos pacientes tornou-se funcionalmente dependente (82,4%), e a maioria dos sobreviventes permaneceu com epilepsia autoimune associada (75%). Cinco pacientes faleceram durante a internação, e um após 26 meses de seguimento. Conclusão No hospital em questão, os pacientes com EA tiveram um desfecho clínico pior do que o previamente descrito na literatura. O desenvolvimento de epilepsia durante o acompanhamento e a mortalidade foram maiores, enquanto o desfecho funcional foi inferior. Os testes de autoanticorpos foram inicialmente negados para a maioria dos pacientes, o que impactou o diagnóstico definitivo e o uso de terapias de segunda linha.

Articulatory speech measures can be related to the severity of multiple sclerosis.

Background: Dysarthria is one of the most frequent communication disorders in patients with Multiple Sclerosis (MS), with an estimated prevalence of around 50%. However, it is unclear if there is a relationship between dysarthria and the severity or duration of the disease. Objective: Describe the speech pattern in MS, correlate with clinical data, and compare with controls. Methods: A group of MS patients (n = 73) matched to healthy controls (n = 37) by sex and age. Individuals with neurological and/or systemic conditions that could interfere with speech were excluded. MS group clinical data were obtained through the analysis of medical records. The speech assessment consisted of auditory-perceptual and speech acoustic analysis, from recording the following speech tasks: phonation and breathing (sustained vowel/a/); prosody (sentences with different intonation patterns) and articulation (diadochokinesis; spontaneous speech; diphthong/iu/repeatedly). Results: In MS, 72.6% of the individuals presented mild dysarthria, with alterations in speech subsystems: phonation, breathing, resonance, and articulation. In the acoustic analysis, individuals with MS were significantly worse than the control group (CG) in the variables: standard deviation of the fundamental frequency (p = 0.001) and maximum phonation time (p = 0.041). In diadochokinesis, individuals with MS had a lower number of syllables, duration, and phonation time, but larger pauses per seconds, and in spontaneous speech, a high number of pauses were evidenced as compared to CG. Correlations were found between phonation time in spontaneous speech and the Expanded Disability Status Scale (EDSS) (r = - 0.238, p = 0.043) and phonation ratio in spontaneous speech and EDSS (r = -0.265, p = 0.023), which indicates a correlation between the number of pauses during spontaneous speech and the severity of the disease. Conclusion: The speech profile in MS patients was mild dysarthria, with a decline in the phonatory, respiratory, resonant, and articulatory subsystems of speech, respectively, in order of prevalence. The increased number of pauses during speech and lower rates of phonation ratio can reflect the severity of MS.

Primary central nervous system lymphoma in a patient with multiple sclerosis using fingolimod.

Primary central nervous system lymphoma (PCNSL) is an uncommon lymphoproliferative disease associated with immunosuppression. Here, we report the case of a patient with multiple sclerosis, under treatment with fingolimod (FTY720, Gilenya) for 4 years, who developed this condition. Although the causal relationship cannot be established, there are cases in the literature that describe the appearance of lymphoma after the use of this medication. Considering the high mortality of PCNSL, epidemiological studies are necessary to establish a relationship between its arising and the use of immunosuppressants.

Motor symptoms and the quality of life of relapsing-remitting multiple sclerosis patients in a specialized center in South of Brazil.

BACKGROUND: Spasticity, fatigue, muscle weakness and changes in gait are some of the main motor symptoms of Multiple Sclerosis (MS). These changes can interfere with the patients' quality of life. OBJECTIVE: To characterize the motor and quality of life symptoms in patients with relapsing-remitting Multiple Sclerosis at a specialized center. METHODS: Fifty five patients at the Neuroimmunology Outpatient Clinic of the Hospital de Clínicas de Porto Alegre were evaluated for fatigue (Fatigue Severity Scale - FSS), walking ability (Functional Ambulation Categories - FAC), impact of MS on walking (Multiple Sclerosis Walking Scale-12 - MSWS-12), walking speed (10-Meter Walk Test - 10MWT and the Times 25-foot Walk test - T25FW), functional independence (Barthel Index - BI), functional mobility (Timed Up and Go - TUG), and quality of life (Multiple Sclerosis Impact Scale - MSIS-29). RESULTS: The patients were mostly women (69.1%), with average age of 43.3 (±12.1) years old, with time since diagnosis of 8.2 (±5.3) years, and EDSS average of 4.3 (±1.3). On the BI, the mean was 96.6 (±5.7) points and 80% of the patients had FAC 5. At MSIS-29, patients had a higher average score on the psychological scale (19.5±26.7) than on the physical scale (10.2±23.6). Most patients (69.1%) presented fatigue. CONCLUSION: The patients had preserved functional independence and functional walking ability and presence of fatigue. There was minimal impact of MS on patients' quality of life.

Motor symptoms and the quality of life of relapsing-remitting multiple sclerosis patients in a specialized center in South of Brazil / Sintomas motores e qualidade de vida em pacientes com esclerose múltipla remitente recorrente em um centro especializado no Sul do Brasil

Abstract Background: Spasticity, fatigue, muscle weakness and changes in gait are some of the main motor symptoms of Multiple Sclerosis (MS). These changes can interfere with the patients' quality of life. Objective: To characterize the motor and quality of life symptoms in patients with relapsing-remitting Multiple Sclerosis at a specialized center. Methods: Fifty five patients at the Neuroimmunology Outpatient Clinic of the Hospital de Clínicas de Porto Alegre were evaluated for fatigue (Fatigue Severity Scale — FSS), walking ability (Functional Ambulation Categories — FAC), impact of MS on walking (Multiple Sclerosis Walking Scale-12 — MSWS-12), walking speed (10-Meter Walk Test — 10MWT and the Times 25-foot Walk test — T25FW), functional independence (Barthel Index — BI), functional mobility (Timed Up and Go — TUG), and quality of life (Multiple Sclerosis Impact Scale — MSIS-29). Results: The patients were mostly women (69.1%), with average age of 43.3 (±12.1) years old, with time since diagnosis of 8.2 (±5.3) years, and EDSS average of 4.3 (±1.3). On the BI, the mean was 96.6 (±5.7) points and 80% of the patients had FAC 5. At MSIS-29, patients had a higher average score on the psychological scale (19.5±26.7) than on the physical scale (10.2±23.6). Most patients (69.1%) presented fatigue. Conclusion: The patients had preserved functional independence and functional walking ability and presence of fatigue. There was minimal impact of MS on patients' quality of life.

RESUMO Antecedentes: Espasticidade, fadiga, fraqueza muscular e alterações na marcha são alguns dos principais sintomas motores da esclerose múltipla (MS). Essas alterações podem interferir na qualidade de vida dos pacientes. Objetivo: caracterizar os sintomas motores e qualidade de vida de pacientes com EM do tipo remitente-recorrente de um Centro Especializado. Métodos: Foram avaliados 55 pacientes do Ambulatório de Neuroimunologia do Hospital de Clínicas de Porto Alegre, quanto a fadiga (Escala de Severidade da Fadiga — FSS), capacidade de deambulação (Categoria de Deambulação Funcional — FAC), impacto da EM na caminhada (Multiple Sclerosis Walking Scale-12 — MSWS-12), velocidade de marcha (Teste de Caminhada de 10 Metros — 10MWT e o de Caminhada Cronometrada de 25 Pés — T25FW), independência funcional (Índice de Barthel — BI), mobilidade funcional (Timed Up and Go — TUG) e qualidade de vida (Escala de Impacto de Esclerose Múltipla — MSIS-29). Resultados: Os pacientes eram, em sua maioria, do sexo feminino (69,1%), com média de idade de 43,3 (±12,8) anos, tempo de diagnóstico de 8,2 (±5,3) anos e a média da EDSS de 4,3 (±1,3). A média no BI foi de 96,6 (±5,7) pontos e 80% dos pacientes apresentavam FAC 5. Na MSIS-29, os pacientes apresentaram maior pontuação média na escala psicológica (19,5±26,7) do que na física (10,2±23,6). A maioria dos pacientes (69.1%) apresentou fadiga. Conclusão: Os pacientes apresentaram independência funcional e capacidade de deambulação funcional preservadas e presença de fadiga. Houve pequeno impacto da EM na qualidade de vida dos pacientes.

Swept Source Optical Coherence Tomography Documenting Optic Nerve Involvement in an Aggressive T-Cell Lymphoma.

Peripheral T-cell lymphomas (PTCLs) are a heterogeneous group of aggressive neoplasms. The involvement of ocular structures in haematological neoplasms is rare and usually associated with central nervous system involvement, which may occur as a result of orbital invasion and optic nerve infiltration. In this case report, we describe ocular findings using the novel swept source optical coherence tomography (SS-OCT) in a case of aggressive T-cell lymphoma. SS-OCT has faster scanning speed, deeper tissue penetration due to its longer wavelength laser of 1050 nm and wider scanning areas. In the present case, SS-OCT was helpful in documenting increased retinal nerve fibre layer thickness and prelaminar protrusion associated with visual loss in a patient with an aggressive T-cell lymphoma.

Individual Macular Layer Evaluation with Spectral Domain Optical Coherence Tomography in Normal and Glaucomatous Eyes.

PURPOSE: To evaluate differences in the thickness of the individual macular layers between early, moderate, and severe glaucomatous eyes and compare them with healthy controls. PATIENTS AND METHODS: Subjects with glaucoma presenting typical optic nerve head findings, high intraocular pressure with or without visual field (VF) damage and normal controls were included. All participants underwent 24-2 perimetry and spectral-domain OCT. Patients were divided into three groups (early, moderate, and severe) based on the mean deviation of the VF and a healthy control group. The device segmented the layers automatically, and their measurements were plotted using the means of the sectors of the inner (3mm) and outer (6mm) circles of the ETDRS grid. RESULTS: A total of 109 eyes qualified for the study: 14 in the control group and 52, 18 and 25 in the early, moderate and severe groups, respectively. Mean age was 66.13 (SD=12.38). The mean thickness of the circumpapillary retinal nerve fiber layer (RNFL), total macular thickness (TMT), macular RNFL, ganglion cell layer (GCL) and inner plexiform layer (IPL) were significantly different between the 4 groups, with progressive decrease in thickness. Significant overall difference was found for the inner nuclear layer (INL), and the severe glaucoma group presented thicker measurements than controls and early glaucoma. Outer nuclear layer (ONL) was thinner in severe glaucoma group compared with early glaucoma group. CONCLUSION: Individual macular layer measurement using the inner and outer circles of the ETDRS grid is useful to evaluate different stages of glaucoma. The INL thickening and ONL thinning in advanced glaucoma should be explored in the future studies.

The central vein sign in multiple sclerosis: a biomarker evaluated on a 3T MRI scanner

The central vein sign (CVS) is a promising MRI biomarker in multiple sclerosis (MS). CVS has recently been proposed to improve the accuracy and speed of MS diagnosis. Evidence indicates that the presence of CVS in individual lesions can accurately differentiate MS from other diseases that mimic this condition, such as hypertensive microangiopathy, atypical demyelination, and neuromyelitis optica. Most studies have used 7T MRI scanners, which limits their clinical applicability. Recently, it has been demonstrated that the fusion of the FLAIR and SWI sequences, generating FLAIR*, allows CVS visualization even on 3T scanners. Many studies have confirmed that CVS at 3T is a specific imaging finding for MS. (AU)

Basal cortisol levels and the relationship with clinical symptoms in multiple sclerosis: a systematic review.

Multiple sclerosis (MS) is a demyelinating, progressive and neurodegenerative disease. A disturbance on the hypothalamic-pituitary-adrenal axis can be observed in patients with MS, showing altered cortisol levels. We aimed to identify basal cortisol levels and verify the relationship with clinical symptoms in patients with MS. A systematic search was conducted in the databases: Pubmed, Web of Science and SCOPUS. Both higher and lower cortisol levels were associated with MS. Higher cortisol levels were associated with depression and anxiety, while lower levels were associated with depression, fatigue and urinary dysfunction. Higher cortisol levels may be associated with the progression and severity of MS.

Practical Evidence-Based Recommendations for Patients with Multiple Sclerosis Who Want to Have Children.

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.

Basal cortisol levels and the relationship with clinical symptoms in multiple sclerosis: a systematic review / Níveis de cortisol basal e a relação com sintomas clínicos na esclerose múltipla: uma revisão sistemática

ABSTRACT Multiple sclerosis (MS) is a demyelinating, progressive and neurodegenerative disease. A disturbance on the hypothalamic-pituitary-adrenal axis can be observed in patients with MS, showing altered cortisol levels. We aimed to identify basal cortisol levels and verify the relationship with clinical symptoms in patients with MS. A systematic search was conducted in the databases: Pubmed, Web of Science and SCOPUS. Both higher and lower cortisol levels were associated with MS. Higher cortisol levels were associated with depression and anxiety, while lower levels were associated with depression, fatigue and urinary dysfunction. Higher cortisol levels may be associated with the progression and severity of MS.

RESUMO A esclerose múltipla (EM) é uma doença desmielinizante, progressiva e neurodegenerativa. Um distúrbio no eixo hipotálamo-hipófise-adrenal pode ser observado em pacientes com EM, mostrando níveis alterados de cortisol. Nosso objetivo foi identificar os níveis basais de cortisol e verificar a relação com os sintomas clínicos em pacientes com EM. Uma busca sistemática foi realizada nas bases de dados: Pubmed, Web of Science e SCOPUS. Ambos os níveis de cortisol elevado e baixo foram associados com a EM. Níveis mais elevados de cortisol foram associados à depressão e ansiedade, enquanto níveis mais baixos foram associados à depressão, fadiga e disfunção urinária. Níveis altos de cortisol podem estar associados à progressão e gravidade da EM.

Normative values of the Brief Repeatable Battery of Neuropsychological Tests in a Brazilian population sample: discrete and regression-based norms.

Objective Cognitive dysfunction is common in multiple sclerosis. The Brief Repeatable Battery of Neuropsychological Tests (BRB-N) was developed to assess cognitive functions most-frequently impaired in multiple sclerosis. However, normative values are lacking in Brazil. Therefore, we aimed to provide continuous and discrete normative values for the BRB-N in a Brazilian population sample. Methods We recruited 285 healthy individuals from the community at 10 Brazilian sites and applied the BRB-N version A in 237 participants and version B in 48 participants. Continuous norms were calculated with multiple-regression analysis. Results Mean raw scores and the 5th percentile for each neuropsychological measure are provided, stratified by age and educational level. Healthy participants' raw scores were converted to scaled scores, which were regressed on age, sex and education, yielding equations that can be used to calculate predicted scores. Conclusion Our normative data allow a more widespread use of the BRB-N in clinical practice and research.

Normative values of the Brief Repeatable Battery of Neuropsychological Tests in a Brazilian population sample: discrete and regression-based norms / Valores normativos da Brief Repeatable Battery of Neuropsychological Tests (BRB-N) em uma amostra da população Brasileira: dados discretos e contínuos

ABSTRACT Objective Cognitive dysfunction is common in multiple sclerosis. The Brief Repeatable Battery of Neuropsychological Tests (BRB-N) was developed to assess cognitive functions most-frequently impaired in multiple sclerosis. However, normative values are lacking in Brazil. Therefore, we aimed to provide continuous and discrete normative values for the BRB-N in a Brazilian population sample. Methods We recruited 285 healthy individuals from the community at 10 Brazilian sites and applied the BRB-N version A in 237 participants and version B in 48 participants. Continuous norms were calculated with multiple-regression analysis. Results Mean raw scores and the 5th percentile for each neuropsychological measure are provided, stratified by age and educational level. Healthy participants' raw scores were converted to scaled scores, which were regressed on age, sex and education, yielding equations that can be used to calculate predicted scores. Conclusion Our normative data allow a more widespread use of the BRB-N in clinical practice and research.

RESUMO Objetivo Disfunção cognitiva é comum em pacientes com esclerose múltipla. Por isto, a Brief Repeatable Battery of Neuropsychological Tests (BRB-N) foi desenvolvida para avaliar as funções cognitivas mais frequentemente alteradas na doença. Entretanto, estão faltando dados normativos desta bateria no Brasil. Assim, nosso objetivo foi fornecer valores normativos contínuos e discretos da BRB-N para a população brasileira. Métodos Foram recrutados 285 indivíduos sadios da comunidade em 10 centros do Brasil e aplicada a versão A em 237 e a versão B em 48 sujeitos. Normas contínuas foram calculadas com análise de regressão múltipla. Resultados Escores brutos médios e 5°percentil para cada subteste são fornecidos, estratificados por idade e nível educacional. Os escores brutos dos sujeitos sadios foram convertidos em escores de escalas e postos em regressão quanto a idade, sexo e educação, fornecendo equações que podem ser usadas para calcular escores previsíveis. Conclusão Nossos dados normativos permitem um uso mais amplo da BRB-N na prática clínica e na pesquisa, fornecendo normas para dados discretos e contínuos. Normas para dados discretos deveriam ser usadas com cuidado e escores demograficamente ajustados são geralmente preferidos quando interpretando dados neuropsicológicos.

Intercontinental validation of brain volume measurements using MSmetrix.

Background Brain volume assessment has become an important outcome within research and treatment of multiple sclerosis (MS). MSmetrix (Icometrix) has been developed specifically for patients with MS. The original healthy, 'normal' population used for determination of the acceptable brain volume data consisted mainly of Europeans. Methods In the present study, results from 295 completely normal magnetic resonance imaging scans from Brazilian subjects were plotted against the original results in MSmetrix. Results With regard to whole brain volume, only 2% of the healthy adult subjects from Brazil were below the 5th percentile of the graph, and for grey matter volume, only 3% of the subjects were below the 5th percentile of MSmetrix standards. Conclusion MSmetrix may be used across different populations.

Neuro-Behçet disease mimicking brain tumor: A case report.

BACKGROUND: Behçet's disease (BD) is an inflammatory multisystem disease with unknown etiology, and consists of a TRIAD comprising recurrent oral ulcers, genital ulcers, and uveitis. In some cases, the disease affects the central nervous system, called Neuro-Behçet Disease (NBD). Few cases of NBD simulating a brain tumor have been previously reported. CASE DESCRIPTION: Here, we describe the case of a 46-year-old male patient with a previous diagnosis of brain tumor who was later diagnosed for BD. CONCLUSION: This case highlights the importance of differential diagnosis of lesions with tumoral features. Checking for the possibility of NBD may help avoiding biopsy in these types of cases.

Correlation of clinical findings and brain volume data in multiple sclerosis.

Brain volume measurements are becoming an important tool for assessing success in controlling multiple sclerosis (MS) activity. MSmetrix (icometrix) is an easy-to-use platform, specific for MS magnetic resonance imaging (MRI) of the brain. It provides data on total brain volume, grey matter volume and lesion load volume. The objective of the present study was to assess whether disability and the number of relapses during the previous year correlated with brain volume measurements from MSmetrix. Data on 185 icometrix reports from patients with MS were used to evaluate the potential correlation between brain volume measurements and clinical parameters. There was a significant correlation between higher disability and decreased brain volume (total and grey matter). Increased lesion load in the brain and higher number of relapses in the previous year were also independently correlated with decreased brain tissue volume and with increased disability. This is the first study with real-world data to show that icometrix is a relevant tool for the study of brain volume loss in MS.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil. We present a review on the neuroimaging, ophthalmologic and neurophysiologic clues for ARSACS diagnosis. The early-onset, slowly progressive, spastic-ataxia phenotype of reported patients was similar to ARSACS patients from Quebec. The SACS sequencing revealed the novel homozygous c.5150_5151insA frameshift mutation confirming the ARSACS diagnosis. ARSACS is a frequent cause of early onset ataxia/spastic-ataxia worldwide, with unknown frequency in Brazil.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil / Ataxia espástica autossômica recessiva de Charlevoix-Saguenay: relato de uma família do sul do Brasil

ABSTRACT Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil. We present a review on the neuroimaging, ophthalmologic and neurophysiologic clues for ARSACS diagnosis. The early-onset, slowly progressive, spastic-ataxia phenotype of reported patients was similar to ARSACS patients from Quebec. The SACS sequencing revealed the novel homozygous c.5150_5151insA frameshift mutation confirming the ARSACS diagnosis. ARSACS is a frequent cause of early onset ataxia/spastic-ataxia worldwide, with unknown frequency in Brazil.

RESUMO A ataxia espástica autossômica recessiva de Charlevoix-Saguenay (ARSACS) é uma doença neurodegenerativa de início precoce causada por mutações no gene SACS que foi inicialmente descrita na região de Quebec, Canadá. A apresentação típica de ARSACS é caracterizada por ataxia, espasticidade, polineuropatia e hipermielinização das fibras nervosas da retina de início infantil. No presente artigo, descrevemos os achados clínicos e neurorradiológicos que levaram à suspeita de ARSACS em duas primas descendentes de alemães naturais do Rio Grande do Sul, Brasil e revisamos os achados de neuroimagem, oftalmológicos e neurofisiológicos de ARSACS. O fenótipo de ataxia-espástica de início infantil precoce apresentado pelas pacientes era similar ao classicamente descrito em Quebec. O sequenciamento do SACS revelou a mutação nova c.5150_5151insA (mudança na matriz de leitura), em homozigose, confirmando o diagnóstico de ARSACS. A ARSACS é uma causa frequente de ataxia/ataxia-espástica de início precoce mundialmente, entretanto sua frequência é desconhecida no Brasil.

Patients' satisfaction with and views about treatment with disease-modifying drugs in multiple sclerosis.

OBJECTIVE: The treatment of multiple sclerosis (MS) with disease-modifying-drugs (DMDs) is evolving and new drugs are reaching the market. Efficacy and safety aspects of the drugs are crucial, but the patients' satisfaction with the treatment must be taken into consideration. METHODS: Individual interview with patients with MS regarding their satisfaction and points of view on the treatment with DMDs. RESULTS: One hundred and twenty eight patients attending specialized MS Units in five different cities were interviewed. Over 80% of patients were very satisfied with the drugs in use regarding convenience and perceived benefits. The only aspect scoring lesser values was tolerability. CONCLUSION: Parameters for improving treatment in MS must include efficacy, safety, and patient satisfaction with the given DMD.