Optimized oligonucleotide sequences for PCR-based diagnostics of the genetic aetiology of Machado-Joseph Disorder (MJD), the CAG trinucleotide expansion within ATXN3 gene: a) length of the expansion and b) single-nucleotide polymorphisms (SNPs) associated with the mutant allele.

Method to diagnose and predict the progression of MJD and to design specific gene therapy strategies.

Optimized oligonucleotides and probes to measure the expression of mutant mRNA in MJD to complement the genetic diagnosis and to evaluate the potential of gene-based therapies such as gene editing or silencing.