Browsing by Author "Castro, M."
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- Familial clustering of migraine: further evidence from a Portuguese studyPublication . Lemos, C.; Castro, M.; Barros, J.; Sequeiros, J.; Pereira-Monteiro, J.; Mendonça, D.; Sousa, A.Abstract OBJECTIVE: Our aim was to evaluate familial aggregation of migraine in a large group of Portuguese families, and to assess if familial aggregation differs between MA and MO. METHODS: Familial aggregation was evaluated by estimating relative risk (RR) of migraine in 143 first-degree relatives of 50 probands with MA, in 196 first-degree relatives of 94 probands with MO and also in proband's spouses. Probands were enrolled in the study from a clinical sample and a population sample was used as reference. RESULTS: A significantly increased risk of migraine was found in both first-degree relatives of MO probands (RR = 3.7; 95% CI: 3.2-4.3) and of MA probands (RR = 3.6; 95% CI: 3.1-4.3), comparatively to the general population. Risk for spouses was not increased. First-degree relatives of MA probands and MO probands had a significantly increased risk of both MA and MO compared to the general population. In the group of MA probands, RR of MA in first-degree relatives reached a significant 4-fold increase when compared with RR of MO (RR(MA|MA) = 12.2, 95%CI: 7.7-19.5; RR(MO|MA) = 3.1, 95%CI: 2.5-3.8), while, in the group of MO probands, RR of MA was not significantly increased when compared with RR of MO (RR(MA|MO) = 5.3, 95%CI: 3.1-9.2; RR(MO|MO) = 4.0, 95%CI: 3.5-4.7). CONCLUSIONS: The present study focus on familial aggregation of migraine in a Portuguese population. Our results demonstrate a substantial familial risk of migraine with evidence of both common and specific etiologic mechanisms for either migraine subtypes.
- Gravidez e Doença de Wilson: Revisão de 3 Casos ClínicosPublication . Castro, M.; Sousa, R.; Marta, S.; Braga, J.A doença de Wilson é uma doença hereditária autossómica recessiva que afecta o gene ATP7B, localizado no cromossoma 13. Caracteriza-se por uma alteração do transporte transmembranar do cobre, acumulando-se este no fígado e noutros órgãos, principalmente cérebro, rins e córnea. A prevalência mundial é de aproximadamente 30 casos por milhão de habitantes. Cerca de 60 a 70% dos casos são diagnosticados entre os 8 e os 20 anos de idade. Clinicamente, apresenta-se como doença hepática, neurológica ou psiquiátrica. O seu diagnóstico é baseado num alto índice de suspeição e na combinação de achados clínicos e laboratoriais. O exame gold standard para o diagnóstico é a biópsia hepática com doseamento do cobre. O tratamento consiste na terapêutica farmacológica permanente ou no transplante hepático. Existem actualmente três fármacos disponíveis: a penicilamina e a trientina (agentes quelantes) e o zinco. O tetratiomolibdato é um agente quelante ainda em investigação. A capacidade reprodutiva das mulheres com doença de Wilson tem melhorado com o aumento da eficácia destas terapêuticas e, como tal, a gravidez torna-se mais frequente. Esta parece não afectar o curso da doença e o principal problema que se coloca é a escolha da terapêutica mais adequada durante a gestação, dado que a segurança destes fármacos na gravidez não está garantida. Os autores descrevem 3 casos de grávidas com doença de Wilson, vigiadas na sua instituição, e discutem a controvérsia em torno do uso destes fármacos no tratamento da doença durante a gravidez e amamentação.
- Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migrainePublication . Castro, M.; Stam, A.; Lemos, C.; Barros, J.; Gouveia, R.; Martins, I.; Koenderink, R.; Vanmolkot, K.; Mendes, A.; Frants, R.; Ferrari, M.; Sequeiros, J.; Pereira-Monteiro, J.; van den Maagdenberg, A.Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura. Three genes have been identified, all involved in ion transport. There is considerable clinical variation associated with FHM mutations. Genotype-phenotype correlation studies are needed, but are challenging mainly because the number of carriers of individual mutations is low. One exception is the recurrent T666M mutation in the FHM1 CACNA1A gene that was identified in almost one-third of FHM families and showed variable associated clinical features and severity, both within and among FHM families. Similar studies in the FHM2 ATP1A2 gene have not been performed because of the low number of carriers with individual mutations. Here we report on the recurrence of ATP1A2 mutations M731T and T376M that affect sodium-potassium pump functioning in two Portuguese FHM families. Considerably increasing the number of mutation carriers with these mutations indicated a clear genotype-phenotype correlation: both mutations are associated with pure FHM. In addition, we show that recurrent mutations for ATP1A2 are more frequent than previously thought, which has implications for genotype-phenotype correlations and genetic testing.