Browsing by Author "Pinto, Eugenia"
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- Genetic variation in a gene involved in glycosphingolipid lipid biosynthesisPublication . Amaral, Olga; Duarte, Ana Joana; Pinto, Eugenia; Ribeiro, I.; Lopes, Lurdes; Ribeiro, DiogoIn this work we presented the identification and distribution of genetic variations among the control samples studied. The results obtained with the different samples showed the existence of several polymorphic changes. Polymorphisms in the UGCG gene may interfere with the amount of substrate available for degradation in specific diseases along the same pathway. Thus,the degree of genetic variability might influence the phenotypic expression as well as the lysosomal burden. Conclusion: Assessment of variation in the UGCG gene should be considered, particularly in patients who do not comply with the expected genotype/phenotype correlations.
- Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B genePublication . Pinto, Eugenia; Freitas, Joel; Duarte, Ana Joana; Ribeiro, Isaura; Lima, JL; Chaves, Joao; Amaral, OlgaUnverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence. This is one of the few cases of homozygosity for a non-classic mutation and adds to mutational heterogeneity of CSTB.