Battisti C, Dotti M T, Loudianos G, Dessì V, Battistini S, Amato T, Rufa A, Federico A
Unit of Neurometabolic Diseases, Istitute of Neurological Sciences, University of Siena, Viale Bracci 2, I-53100 Siena, Italy.
Neurol Sci. 2004 Apr;25(1):18-20. doi: 10.1007/s10072-004-0220-z.
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.
威尔逊病（WD）是一种常染色体隐性铜转运障碍疾病，与ATP7B基因（麦库西克编号277900）的突变有关。在此，我们报告一例新的WD病例，其中一种罕见突变Leu492Ser首次以纯合子形式出现，与该疾病的神经学表现及芳基硫酸酯酶A假性缺乏相关。
