Article
Improvement in the molecular diagnosis of Machado-Joseph disease.
Archives of neurology - 1 Nov 2001
Maciel P, Costa M C, Ferro A, Rousseau M, Santos C S, Gaspar C, Barros J, Rouleau G A, Coutinho P, Sequeiros J
Abstract excerpt
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 determine whether...
Topics
- Adult
- Aged
- Alleles
- Ataxin-3
- Base Sequence
- Female
- Genetic Testing
- Humans
- Machado-Joseph Disease
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- Nuclear Proteins