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Spinocerebellar ataxias type 3 (SCA3) and type 10 (SCA10) are the most prevalent in southern Brazil. To analyze the relationships between volumetric MRI changes and clinical and genetic findings in SCA3 and SCA10 patients. All patients in the study had a confirmed genetic diagnosis. Demographic data, ataxia severity (SARA score), and the size of the expanded alleles were evaluated. Nineteen SCA3 and 18 SCA10 patients were selected and compared with a similar number of healthy controls. Patient and control groups underwent the same MRI protocol. The standard FreeSurfer pipeline was used for the morphometric data. Our results show more affected brain structures (volume reductions) in SCA3 patients than in SCA10 patients (15 vs. 5 structures). Volume reductions in brain structures were also greater in the former. The main areas with significant volumetric reductions in the former were the cerebellum, basal ganglia, brain stem, and diencephalon, whereas in the latter, significant volume reductions were observed in the cerebellum and pallidum. While SARA scores and disease duration were more correlated with volume reduction in SCA10, in SCA3, the expansion length (CAGn) correlated positively with cerebellar WM, thalamus, brain stem, and total GM volumes. There was no correlation between expansion length (ATTCTn) and neuroimaging findings in SCA10. Neuroimaging results differed significantly between SCA3 and SCA10 patients and were compatible with the differences in clinical presentation, disease progression, and molecular findings.

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Background: The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia. Classified according to gene discovery, specific features of the SCAs - clinical, laboratorial, and neuroradiological (NR) - can facilitate establishing the diagnosis. The purpose of this study was to review the particular NR abnormalities in the main SCAs. Methods: We conducted a literature search on this topic. Results: The main NR characteristics of brain imaging (magnetic resonance imaging or computerized tomography) in SCAs were: (1) pure cerebellar atrophy; (2) cerebellar atrophy with other findings (e.g., pontine, olivopontocerebellar, spinal, cortical, or subcortical atrophy; "hot cross bun sign", and demyelinating lesions); (3) selective cerebellar atrophy; (4) no cerebellar atrophy. Discussion: The main NR abnormalities in the commonest SCAs, are not pathognomonic of any specific genotype, but can be helpful in limiting the diagnostic options. We are progressing to a better understanding of the SCAs, not only genetically, but also pathologically; NR is helpful in the challenge of diagnosing the specific genotype of SCA.

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Osteogenesis imperfecta (OI) is a bone disorder that can lead to skull base deformities such as basilar invagination, which can cause compression of cranial nerves, including the trigeminal nerve. Trigeminal neuralgia in such cases remains a challenge, given distorted anatomy and deformities. We present an alternative option, consisting in cannulation of the foramen ovale and classical percutaneous treatment. Percutaneous balloon microcompression was performed in a 28 year-old woman with OI and severe trigeminal neuralgia using computed tomography (CT) and radiographic-guided cannulation of the Gasserian ganglion without neuronavigation or stereotactic devices. The patient developed hypoesthesia on the left V1, V2 and V3 segments with good pain control. This alternative technique with a CT-guided puncture, using angiosuite without the need of any Mayfield clamp, neuronavigation systems, frame or frameless stereotactic devices can be a useful, safe and efficient alternative for patients with trigeminal neuralgia with other bone deforming diseases that severely affect the skull base.

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Summary Osteogenesis imperfecta (OI) is a bone disorder that can lead to skull base deformities such as basilar invagination, which can cause compression of cranial nerves, including the trigeminal nerve. Trigeminal neuralgia in such cases remains a challenge, given distorted anatomy and deformities. We present an alternative option, consisting in cannulation of the foramen ovale and classical percutaneous treatment. Percutaneous balloon microcompression was performed in a 28 year-old woman with OI and severe trigeminal neuralgia using computed tomography (CT) and radiographic-guided cannulation of the Gasserian ganglion without neuronavigation or stereotactic devices. The patient developed hypoesthesia on the left V1, V2 and V3 segments with good pain control. This alternative technique with a CT-guided puncture, using angiosuite without the need of any Mayfield clamp, neuronavigation systems, frame or frameless stereotactic devices can be a useful, safe and efficient alternative for patients with trigeminal neuralgia with other bone deforming diseases that severely affect the skull base.

Resumo Osteogênese imperfeita (OI) é uma doença óssea que pode levar a deformidades de base de crânio, como invaginação basilar que pode provocar compressão de nervo craniano, incluindo o nervo trigêmeo. Nestes casos, a neuralgia do trigêmeo permanece como um desafio, pela anatomia distorcida e pelas deformidades. Apresentamos uma alternativa que consiste na canulação do forame oval e no tratamento percutâneo clássico. A microcompressão percutânea por balão foi realizada em uma paciente de 28 anos apresentando OI e grave neuralgia do trigêmeo, sendo realizadas tomografia computadorizada (CT) e canulação guiadas do gânglio gasseriano sem neuronavegação ou dispositivos estereotáxicos. A paciente apresentou hipoestesia à esquerda dos segmentos V1, V2 e V3, com bom controle da dor. Essa técnica alternativa com punção orientada por CT utilizando o angiosuite sem a necessidade de qualquer grampo de Mayfield, sistemas de neuronavegação, ou dispositivos com ou sem arcos estereotáxicos, pode ser uma opção útil, segura e eficiente para pacientes com neuralgia do trigêmeo cursando com outras doenças deformativas que afetem a base craniana de modo grave.

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Objective: Vitamin D has taken center stage in research and treatment of multiple sclerosis (MS). The objective of the present study was to assess the serum vitamin D levels of a large population of patients with MS and controls living in a restricted tropical area. Methods: Data from 535 patients with MS and 350 control subjects were obtained from 14 cities around the Tropic of Capricorn. Results: The mean serum 25-OH vitamin D level was 26.07 ± 10.27 ng/mL for the control subjects, and 28.03 ± 12.19 ng/mL for patients with MS. No correlation was observed between vitamin D levels and the disability of patients over the disease duration. Conclusion: At least for the region around the Tropic of Capricorn, serum levels of vitamin D typically are within the range of 20 to 30 ng/mL for controls and patients with MS.

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ABSTRACT Objective: Vitamin D has taken center stage in research and treatment of multiple sclerosis (MS). The objective of the present study was to assess the serum vitamin D levels of a large population of patients with MS and controls living in a restricted tropical area. Methods: Data from 535 patients with MS and 350 control subjects were obtained from 14 cities around the Tropic of Capricorn. Results: The mean serum 25-OH vitamin D level was 26.07 ± 10.27 ng/mL for the control subjects, and 28.03 ± 12.19 ng/mL for patients with MS. No correlation was observed between vitamin D levels and the disability of patients over the disease duration. Conclusion: At least for the region around the Tropic of Capricorn, serum levels of vitamin D typically are within the range of 20 to 30 ng/mL for controls and patients with MS.

RESUMO Objetivo: Vitamina D assumiu um papel central na pesquisa e tratamento da esclerose múltipla (EM). O objetivo deste estudo foi avaliar os níveis séricos de vitamina D de pacientes com EM e controles que residem em uma área tropical. Métodos: Foram analisados dados de 535 pacientes com EM e 350 indivíduos controle em 14 cidades próximas ao Trópico de Capricórnio. Resultados: O valor médio da determinação de 25-OH vitamina D foi 26,07 ± 10,27 ng/mL para controles e 28,03 ± 12,19 ng/mL para pacientes com EM. Não houve correlação entre os níveis de vitamina D e o grau de incapacidade ao longo da duração da doença. Conclusão: Pelo menos na região que cerca o Trópico de Capricórnio, os níveis séricos de vitamina D estão entre valores de 20 a 30 ng/mL tanto para controles quanto para pacientes com EM.

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Fingolimod is a new and efficient treatment for multiple sclerosis (MS). The drug administration requires special attention to the first dose, since cardiovascular adverse events can be observed during the initial six hours of fingolimod ingestion. The present study consisted of a review of cardiovascular data on 180 patients with MS receiving the first dose of fingolimod. The rate of bradycardia in these patients was higher than that observed in clinical trials with very strict inclusion criteria for patients. There were less than 10% of cases requiring special attention, but no fatal cases. All but one patient continued the treatment after this initial dose. This is the first report on real-life administration of fingolimod to Brazilian patients with MS, and one of the few studies with these characteristics in the world.

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Fingolimod is a new and efficient treatment for multiple sclerosis (MS). The drug administration requires special attention to the first dose, since cardiovascular adverse events can be observed during the initial six hours of fingolimod ingestion. The present study consisted of a review of cardiovascular data on 180 patients with MS receiving the first dose of fingolimod. The rate of bradycardia in these patients was higher than that observed in clinical trials with very strict inclusion criteria for patients. There were less than 10% of cases requiring special attention, but no fatal cases. All but one patient continued the treatment after this initial dose. This is the first report on real-life administration of fingolimod to Brazilian patients with MS, and one of the few studies with these characteristics in the world.

Fingolimode é um tratamento novo e eficaz para esclerose múltipla (EM). A administração desta droga requer atenção especial para a primeira dose, uma vez que eventos adversos cardiovasculares podem ser observados nas seis horas iniciais da ingestão de fingolimode. O presente estudo consistiu de uma revisão de dados cardiovasculares de 180 pacientes com EM ao receberem a primeira dose de fingolimode. A taxa de bradicardia nestes pacientes foi maior do que aquele observada em estudos clínicos que tem critérios de inclusão muito rigorosos para seleção de pacientes. Menos de 10% dos casos necessitou de atenção especial, mas não houve casos fatais. Todos os pacientes exceto por um continuaram o tratamento após esta dose inicial. Este é o primeiro relato de dados de administração de fingolimode na vida real de pacientes brasileiros com EM, e um dos poucos trabalhos com estas características no mundo.

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OBJECTIVE: Natalizumab is a new and efficient treatment for multiple sclerosis (MS). The risk of developing progressive multifocal leukoencephalopathy (PML) during the use of this drug has created the need for better comprehension of JC virus (JCV) infection. The objective of the present study was to assess the prevalence of JCV-DNA in Brazilian patients using natalizumab. METHOD: Qualitative detection of the JCV in the serum was performed with real-time polymerase chain reaction (PCR). RESULTS: In a group of 168 patients with MS who were undergoing treatment with natalizumab, JCV-DNA was detectable in 86 (51.2%) patients. DISCUSSION: Data on JCV-DNA in Brazil add to the worldwide assessment of the prevalence of the JCV in MS patients requiring treatment with natalizumab.

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Multiple sclerosis (MS) starting in childhood and adolescence poses a challenge for diagnosis and management of the disease. The aim of the present study was to assess the characteristics of early onset MS in Brazilian patients. Methods Retrospective data collection from specialized MS units. Results From 20 MS units in 11 Brazilian states, 117 cases of MS starting before the age of 18 years were collected. These patients had an average of 10 years of disease duration, still typically with low disability and one relapse every 2.5 years. The mean age for disease onset was 13.7 years. Conclusion The present study introduces a large series of Brazilian cases of pediatric MS. Although some patients presented a very severe form of MS, on the whole the group of patients with MS starting in childhood or adolescence presented a relatively mild form of this disease in Brazil.

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