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

C Battisti; M T Dotti; G Loudianos; V Dessì; S Battistini; T Amato; A Rufa; A Federico

doi:10.1007/s10072-004-0220-z

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

Neurol Sci. 2004 Apr;25(1):18-20. doi: 10.1007/s10072-004-0220-z.

Authors

C Battisti¹, M T Dotti, G Loudianos, V Dessì, S Battistini, T Amato, A Rufa, A Federico

Affiliation

¹ Unit of Neurometabolic Diseases, Istitute of Neurological Sciences, University of Siena, Viale Bracci 2, I-53100 Siena, Italy.

PMID: 15060811
DOI: 10.1007/s10072-004-0220-z

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Triphosphatases / genetics*
Adult
Cation Transport Proteins / genetics*
Cerebroside-Sulfatase / deficiency*
Copper-Transporting ATPases
Hepatolenticular Degeneration / complications*
Hepatolenticular Degeneration / genetics*
Hepatolenticular Degeneration / physiopathology
Humans
Male
Mutation
Reverse Transcriptase Polymerase Chain Reaction

Substances

Cation Transport Proteins
Cerebroside-Sulfatase
Adenosine Triphosphatases
ATP7B protein, human
Copper-Transporting ATPases