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Improvement in the molecular diagnosis of Machado-Joseph disease
Maciel, P.; Costa, M.; Ferro, A.; Rousseau, M.; Santos, C.; Gaspar, C.; Barros, J.; Rouleau, G.; Coutinho, P.; Sequeiros, J.Abstract BACKGROUND: Direct detection of the gene mutation allows for the confirmation of the clinical diagnosis of Machado-Joseph disease (MJD), the most frequent cause of autosomal dominant spinocerebellar ataxia worldwide. OBJECTIVE: To address the main difficulties in our national MJD predictive testing program. The first was the emergence of intermediate alleles, for which it is not yet possible to determ...
Molecular characteristics of Machado-Joseph disease mutation in 25 newly descri...
Lopes-Cendes,Iscia; Teive,Hélio G.A.; Cardoso,Francisco; Viana,Erika M.; Calcagnotto,Maria E.; Costa,Jaderson C. da; Trevisol-Bittencourt,Paulo C.Machado-Joseph disease (MJD) is a form of autosomal dominant spinocerebellar ataxia first described in North-American patients originating from the Portuguese islands of the Azores. Clinically this disorder is characterized by late onset progressive ataxia with associated features, such as: ophthalmoplegia, pyramidal and extrapyramidal signs and distal muscular atrophies. The causative mutation is an expansion ...
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