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 pseudeficiency.
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Battisti, C., Dotti, M.T., Loudianos, G. et al. Wilson’s disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?. Neurol Sci 25, 18–20 (2004). https://doi.org/10.1007/s10072-004-0220-z
- Wilson’s disease
- Arylsulfatase A pseudodeficiency