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Ataxia de Friedreich e Diabetes Mellitus: estudo de uma família

2005Journal article Open access
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dc.contributor.authorMelo, M
dc.contributor.authorFagulha, A
dc.contributor.authorBarros, L
dc.contributor.authorGuimarães, J
dc.contributor.authorCarrilho, F
dc.contributor.authorCarvalheiro, M
dc.date.accessioned2008-11-28T12:34:47Z
dc.date.available2008-11-28T12:34:47Z
dc.date.issued2005
dc.description.abstractFriedreich's ataxia (FA) is one of the genetic syndromes sometimes associated with diabetes and the most common hereditary ataxia. It is a autosomal recessive neurodegenerative disease, caused by a mutation in the FRDA gene, which originates decreased expression of frataxin, a mitochondrial protein involved in iron metabolism. The disorder is usually manifest in childhood and is characterised by ataxia, dysarthria, scoliosis and feet deformity. About two thirds of patients have hypertrophic cardiomyopathy, 10% have diabetes and 20% have another glucose homeostasis disorder. Both insulin resistance and beta-cell dysfunction are implicated in this patients' diabetes pathophysiology. The mean half-life is 35 years. Cause of death is usually related to cardiomyopathy or diabetes' complications. We report the case study of two twin sisters with 28 years old, in whom FA was diagnosed in the first decade, both of them with diabetes since their early twenties. A third sister with FA is reported, with no glucose homeostasis disorder. They also have two healthy male brothers. Based in this cases, the FA associated diabetes pathophysiology is discussed, concerning the therapeutic approach to these patients and to their diabetic relatives without neurologic symptoms. The role of molecular genetic testing and genetic counselling are also debated.en
dc.identifier.citationActa Med Port. 2005 Nov-Dec;18(6):479-83en
dc.identifier.urihttp://hdl.handle.net/10400.4/220
dc.language.isoporen
dc.publisherCentro Editor Livreiro da Ordem dos Médicosen
dc.subjectAtaxia de Friedreichen
dc.subjectDiabetes Mellitusen
dc.titleAtaxia de Friedreich e Diabetes Mellitus: estudo de uma famíliaen
dc.title.alternativeFriedreich Ataxia and Diabetes Mellitus: family studyen
dc.typejournal article
dspace.entity.typePublication
rcaap.rightsopenAccess
rcaap.typearticleen

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