Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

PubMedID: 15060811

Battisti C, Dotti MT, Loudianos G, Dessì V, Battistini S, Amato T, Rufa A, Federico A. Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?. Neurol Sci. 2004;25(1):18-20.
Wilson's disease (WD) is an autosomal recessive disorder of copper transport, related to mutations of the ATP7B gene (McKusick 277900). Here we report a new case of WD in which a rare mutation, Leu492Ser expressed for the first time in homozygosity, is associated with neurological presentation of the disease and arylsulfatase A pseudodeficiency.