Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
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.
Battisti
C
C
Unit of Neurometabolic Diseases, Istitute of Neurological Sciences, University of Siena, Viale Bracci 2, I-53100 Siena, Italy.
Dotti
M T
MT
Loudianos
G
G
Dessì
V
V
Battistini
S
S
Amato
T
T
Rufa
A
A
Federico
A
A
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
D027682:Cation Transport Proteins; D002553:Cerebroside-Sulfatase; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases