The prevalence of multiple sclerosis in Belo Horizonte, Brazil.

UNLABELLED: Investigations on the prevalence rates of multiple sclerosis (MS) around the world have yielded important clues on the interplay between genetic susceptibility and environmental factors. As Brazil is a huge country laid on many latitudes and inhabited by population with distinct ethnic backgrounds, it might be assumed that the frequency of MS varies in its different regions. OBJECTIVE: To determine the prevalence rate of MS in Belo Horizonte, the capital of the State of Minas Gerais, Southeastern Brazil. METHODS: We used six sources to draw up a provisional list of identified cases of MS. Only patients with diagnosis of clinically definite MS according to Poser Committee criteria were included. RESULTS: The calculated crude MS prevalence was 18.1/100,000 inhabitants. CONCLUSIONS: The MS prevalence in Belo Horizonte is similar to that found in São Paulo and Botucatu, two other cities in southeastern Brazil with similar ethnic background.

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. A broad range of studies have been published focusing on Pompe patients from different countries, but none from Brazil. We investigated 41 patients with either infantile-onset (21 cases) or late-onset (20 cases) disease by muscle pathology, enzyme activity and GAA gene mutation screening. Molecular analyses identified 71 mutant alleles from the probands, nine of which are novel (five missense mutations c.136T > G, c.650C > T, c.1456G > C, c.1834C > T, and c.1905C > A, a splice-site mutation c.1195-2A > G, two deletions c.18_25del and c.2185delC, and one nonsense mutation c.643G > T). Interestingly, the c.1905C > A variant was detected in four unrelated patients and may represent a common Brazilian Pompe mutation. The c.2560C > T severe mutation was frequent in our population suggesting a high prevalence in Brazil. Also, eight out of the 21 infantile-onset patients have two truncating mutations predicted to abrogate protein expression. Of the ten late-onset patients who do not carry the common late-onset intronic mutation c.-32-13T > G, five (from three separate families) carry the recently described intronic mutation, c.-32-3C > A, and one sibpair carries the novel missense mutation c.1781G > C in combination with known severe mutation c.1941C > G. The association of these variants (c.1781G > C and c.-32-3C > A) with late-onset disease suggests that they allow for some residual activity in these patients. Our findings help to characterize Pompe disease in Brazil and support the need for additional studies to define the wide clinical and pathological spectrum observed in this disease.

The prevalence of multiple sclerosis in Belo Horizonte, Brazil / Prevalência da esclerose múltipla em Belo Horizonte, Brasil

Investigations on the prevalence rates of multiple sclerosis (MS) around the world have yielded important clues on the interplay between genetic susceptibility and environmental factors. As Brazil is a huge country laid on many latitudes and inhabited by population with distinct ethnic backgrounds, it might be assumed that the frequency of MS varies in its different regions. Objective: To determine the prevalence rate of MS in Belo Horizonte, the capital of the State of Minas Gerais, Southeastern Brazil. Methods: We used six sources to draw up a provisional list of identified cases of MS. Only patients with diagnosis of clinically definite MS according to Poser Committee criteria were included. Results: The calculated crude MS prevalence was 18.1/100,000 inhabitants. Conclusions: The MS prevalence in Belo Horizonte is similar to that found in São Paulo and Botucatu, two other cities in southeastern Brazil with similar ethnic background.

Estudos sobre as taxas de prevalência da esclerose múltipla (EM) no mundo têm fornecido importantes evidências do papel da inter-relação dos fatores genéticos e ambientais determinando estas frequências. Como o Brasil é um país muito extenso e com populações de diversas origens étnicas, supõe-se que a frequência da EM seja variável em suas diferentes regiões. Objetivo: Determinar a taxa de prevalência da esclerose múltipla (EM) em Belo Horizonte, capital do estado de Minas Gerais, no sudeste do Brasil. Métodos: Nós usamos seis fontes para a identificação dos pacientes que preenchiam os critérios diagnósticos de EM clinicamente definida de acordo com o Comitê de Poser. Resultados: A taxa de prevalência encontrada foi de 18,1/100.000 habitantes. Conclusões: A prevalência em Belo Horizonte de EM é semelhante à encontrada nos estudos em São Paulo e Botucatu, duas outras cidades na região sudeste do Brasil habitadas por populações com similar origem étnica.