Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39%), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3% of all patients; and 6% in the dominantly inherited SCAs. We identified the SCA2 mutation in 6% of all families and in 9% of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30% of all patients; and in the 44% of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.

RESUMO -Neurocisticercose é condição provocada pela infecção do sistema nervoso pelo Cysticercus cellulosae, a forma larvária da Taenia solium. Ela é, muito provavelmente, a principal responsável pela elevada prevalência de epilepsia no Brasil. Em diversas áreas do país, possui um caráter endêmico, gerando grande dispêndio financeiro para um enfrentamento das diversas complicações neurológicas relacionadas a ela. Sabe-se que por suas peculariedades sócio-econômicas, com suinocultura disseminada, a região sul do Brasil, é considerada pelo ministério da Saúde como uma área de alto risco. Para averiguar sua importância entre nós, um estudo, considerando internações por epilepsia e sua etiologia, foi realizado na cidade de Chapecó, principal cidade do oeste de Santa Catarina. O período coberto pela investigação foi de 1995, entrada em funcionamento de tomógrafo computadorizado no Hospital Regional daquela cidade, até o mês de novembro de 1996. Uma expressiva prevalência de neurocisticercose, aproximada de 24%, foi observada entre os indivíduos internados pelo diagnóstico de epilepsia. Algo em torno de 40% dos infectados apresentava lesões em sua fase ativa, sugerindo uma aquisição recente. Nossos dados sugerem que a despeito desta região sediar agro-indústrias de projeção internacional, a cisticercose grassa endemicamente na área. Um controle deste flagelo terceiro mundista poderia ser obtido com a difusão de mensagens educativas, em linguajar apropriado, para uma sensibilização de toda a população vivendo naquela região. Além disso, todos aqueles indivíduos envolvidos em suinocultura, independentemente de como seja esta classificada, deveriam ser objeto de atenção especial. PALAVRAS-CHAVES: neurocisticercose, epilepsia, suinocultura. Prevalence of neurocysticercosis among epileptic in-patients in the west of Santa Catarina -southern BrazilABSTRACT -Neurocysticercosis (NC) is an endemic condition in several areas of Brazil. It is most likely the major responsible for the high prevalence of epilepsy in our country, estimated in 1-2% of general population. We performed a study to evaluate NC as aetiology of epilepsy in the west of Santa Catarina. This state belong to southern Brazil and it has a very developed economy. However, due the widespread swine farming in the west district, many of them without any sanitary control, the national health authorities have considered all this area at risk to NC. The study was carried out in Chapecó, the main town in that region, where CT Scan service was started in 1995. All patients put on hospital care due epileptic seizures in 1995-96 were considered. Febrile convulsions were excluded of the sample. We found a very expressive prevalence rate of NC among patients suffering from epilepsy. Roughly 24% of these patients, showed unequivocal tomography evidences for the diagnosis of NC. Our data suggest cysticercosis as a real endemic trouble in the area and, overdosis of information in proper language, diffuse to the whole population, seems to be the only remedy to fight against it....

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Serum S100B is normal in patients with focal epilepsy related or not to chronic NCC.

The effects of the addition of Vigabatrin, a new anti-epileptic drug, to the therapy of 128 patients with severe medically refractory epilepsy is reported. Forty two (33%) of patients experienced side effects, which were predominantly neurotropic. In 28 (22%), the drug was withdrawn because of these side effects. The commonest side effects were drowsiness and behavioural change. The remaining 100 patients were followed for a mean of 30 weeks (range 12-75

Machado-Joseph disease (MJD) is a form of autosomal dominant spinocerebellar ataxia first described in North-American patients originating from the Portuguese islands of the Azores. Clinically this disorder is characterized by late onset progressive ataxia with associated features, such as: ophthalmoplegia, pyramidal and extrapyramidal signs and distal muscular atrophies. The causative mutation is an expansion of a CAG repeat in the coding region of the MJD1 gene. We have identified 25 unrelated families segregating the MJD mutation during a large collaborative study of spinocerebellar ataxias in Brazil. In the present study a total of 62 family members were genotyped for the CAG repeat in the MJD1 gene, as well as 63 non-MJD individuals (126 normal chromosomes), used as normal controls. We observed a wide gap between the size range of the normal and expanded CAG repeats: the normal allele had from 12 to 33 CAGs (mean = 23 CAGs), whereas the expanded alleles ranged from 66 to 78 CAGs (mean = 71.5 CAGs). There were no differences in CAG tract length according to gender of affected individuals or transmitting parent. We observed a significant negative correlation between age at onset of the disease and length of the CAG tract in the expended allele (r = -0.6, P = 0.00006); however, the size of the expanded CAG repeat could explain only about 40% of the variability in age at onset (r2 = 0.4). There was instability of the expanded CAG tract during transmission from parent to offspring, both expansions and contractions were observed; however, there was an overall tendency for expansion, with a mean increase of +2.4 CAGs. The tendency for expansion appeared to the greater in paternal (mean increase of +3.5 CAGs) than in maternal transmissions (mean increase of +1.3 CAGs). Anticipation was observed in all transmissions in which ages at onset for parent and offspring were known; however, anticipation was not always associated with an increase in the expanded CAG repeat length. Our results indicate that the molecular diagnosis of MJD can be confirmed or excluded in all suspected individuals, since alleles of intermediary size were not observed.
A doença de Machado-Joseph (MJD) é uma forma de ataxia espinocerebelar (AEC) de herança autossômica domi nante, que foi descrita inicialmente em pacientes norte-americanos provenientes das ilhas portuguesas dos Açores. Clinicamente essa doença é caracterizada por uma ataxia cerebelar progressiva, de início tardio e com algumas características associadas tais como: oftalmoplegia, sinais piramidais e extrapiramidais e amiotrofias. A mutação responsável é uma expansão de trinucleotídeos CAG localizada na região codificadora do gene MJD1. Como parte de um estudo colaborativo sobre AEC no Brasil, nós identificamos 25 famílias, não aparentadas, segregando a mutação MJD. Nesse artigo nós relatamos as características moleculares do trinucleotídeo CAG presente no gene MJD1 em 62 indivíduos dessas famílias com MJD e em 63 indivíduos que não apresentam a mutação MJD (126 cromossomos normai...

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Resumo -Objetivo: Identificar em nossa sociedade as etiologias mais prováveis de epilepsia iniciada após os 18 anos de idade. Método: Estudo retrospectivo e descritivo na CME/SUS de Florianópolis de 1990 à 1998, analisando 120 prontuários de pacientes com epilepsia tardia, isto é, aqueles que iniciaram suas crises epilépticas dos 18 anos em diante. As variáveis coletadas foram: idade da primeira crise, etiologias prováveis, história mórbida familiar. Resultados: A prevalência encontrada para epilepsia tardia foi 29,48%.Epilepsias parciais sintomáticas foram majoritárias e as etiologias mais frequentes e relevantes encontradas foram: cisticercose com cerca de 20%, trauma crânio encefálico com 15%, convulsão febril na infância com 5% e 35% da amostra foi classificada como idiopática. Conclusão: prevalência de epilepsia de início tardio em nossa sociedade é 29,48%, cifra ligeiramente superior à relatada em países desenvolvidos (25%). Muito provavelmente, esta diferença é consequência do caráter epidêmico de cisticercose entre nós. Além disso, trauma crânio encefálico e crises febris são etiologias comuns. Profilaxia de epilepsia é viável e urgentemente necessária em nosso Estado.PALAVRAS-CHAVE: epilepsia, cisticercose, convulsão febril, trauma craniano. Etiologies of late-onset epilepsy in an epilepsy clinic of Santa Catarina-Southern BrazilABSTRACT -Objective: To identify the most common etiologies of late-onset epilepsy in our society. Method: Retrospective and descriptive study in the CME/SUS of Florianópolis from 1990 to 1998, evaluating 120 handbooks of patients with late-onset epilepsy, that is, those that had initiated epileptic seizures of the 18 years in ahead. The collected variables were: age of the first seizure, etiologies and morbid familial history. Results: The prevalence rate found for late-onset epilepsy was 29.48%. Most of the sample had partial symptomatic epilepsy and the most frequent and important were: cysticercosis with 20%, head trauma with 15%, febrile convulsions in infancy with 5% and 35% were classified as idiopatic. Conclusion: Prevalence of late-onset epilepsy in our society is 29.48%, value slightly upper to the told one in developed countries (25%). Very probably, this difference is consequence of the epidemic character of cysticercosis among us. Moreover, head trauma and febrile convulsions are common etiologies. Prophylaxis of epilepsy is viable and urgently necessary in our society. KEY-WORDS: epilepsy, cysticercosis, febrile convulsion, head trauma.Epilepsia é um distúrbio recorrente da bioeletrogênese cerebral. Ela é uma síndrome neurológica comum, tendo alta prevalência mundial, estimada entre 0,4 a 2% da população em geral 1,2 . Países em desenvolvimento são os que aparentemente apresentam taxas mais elevadas de epilepsia, isto refletindo possivelmente uma maior exposição aos fatores de risco associados com epilepsia 1 . No Brasil, apesar da inexistência de estudos epidemiológicos adequados envolvendo diferentes regiões sócio-econômicas, supõe-se que algo em torno de 1 a 2% ...