title: Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
abstract: 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.
authors.affiliation: Unit of Neurometabolic Diseases, Istitute of Neurological Sciences, University of Siena, Viale Bracci 2, I-53100 Siena, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Battisti
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: G
authors.initials: G
authors.lastname: Loudianos
authors.forename: V
authors.initials: V
authors.lastname: Dessì
authors.forename: S
authors.initials: S
authors.lastname: Battistini
authors.forename: T
authors.initials: T
authors.lastname: Amato
authors.forename: A
authors.initials: A
authors.lastname: Rufa
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics*; D002553:Cerebroside-Sulfatase / Q000172:deficiency*; D000073840:Copper-Transporting ATPases; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009154:Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D027682:Cation Transport Proteins; D002553:Cerebroside-Sulfatase; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases