AIM: To analyze the metallochaperone antioxidant-1 (Atoxl) gene sequence in Wilson disease patients.METHODS: Mutation analysis of the four exons of the Atoxl gene including the intron- exon boundaries was performed in 63 Wilson disease patients by direct sequencing.RESULTS: From 63 selected patients no mutations were identified after the entire coding region including the intron- exon boundaries of Atoxl were sequenced.One known polymorphism within the Atoxl gene (5'UTR-99 T>C) in 31 (49%) of the Wilson patients as well as one previously undescribed variation (5'UTR -68 C>T)in 2 of the Wilson patients could be detected. Statistical analyses revealed that the existence of a variation within the Atoxl- gene showed a tendency towards an earlier onset of the disease.CONCLUSION: Based on the data of this study, no major role can be attributed to Atoxl in the pathophysiology or clinical variation of Wilson disease.