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Revista Médica del Uruguay

On-line version ISSN 1688-0390

Abstract

VAGLIO, Alicia et al. CADASIL: comunicación de una familia uruguaya con definición clínica, imagenológica, anatomopatológica y genética molecular. Rev. Méd. Urug. [online]. 2008, vol.24, n.1, pp.24-31. ISSN 1688-0390.

Summary Introduction: CADASIL syndrome (Cerebral Dominant Arteriopathy with Subcortical Infarcts and Leukoencephlopathy), the most common form of hereditary stroke disorder is a nonamyloid, non-atheromatous microangiopathy. Main clinical features are found in the brain. The disease may be diagnosed by clinical findings, images and genetic molecular criteria. Methods: an anatomopathological analysis through a skin and muscle biopsy and molecular study was performed on three members of the same family diagnosed with CADASIL. Results: clinical, paraclinical, neurological and ultrastructural skin biopsy study’s findings were consistent with CADASIL. Notch3 sequence exonal analysis (2,3,4,5,8,11,20,23) suggested heterocigotic mutations in exon 5, not previously described in literature. Conclusions: we stress the importance of early diagnosis of this disease and the molecular definition that enables genetic counselling to all members of the family and, potentially, prenatal diagnosis of the disease.

Keywords : CADASIL [genetics]; EXONS [genetics]; RECEPTORS, NOTCH [genetics]; MUTATION.

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