Improvement in the molecular diagnosis of Machado-Joseph disease.

  title={Improvement in the molecular diagnosis of Machado-Joseph disease.},
  author={Patr{\'i}cia Maciel and Marcelo C. Costa and Anabela Ferro and Mathieu Rousseau and Carolina S. Santos and Claudia Gaspar and Jos{\'e} Wellington Barros and Guy Rouleau and Paula Coutinho and J Sequeiros},
  journal={Archives of neurology},
  volume={58 11},
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… CONTINUE READING