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Mov Disord. 2014 Apr;29(4):558-62. doi: 10.1002/mds.25763. Epub 2013 Dec 27.

Relative exchangeable copper: a promising tool for family screening in Wilson disease.

Author information

1
Centre national de référence pour la maladie de Wilson, AP-HP, Hôpital Lariboisière, Paris, France.

Abstract

BACKGROUND:

Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening.

METHODS:

Data from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first- or second-degree relatives of the index case underwent clinical examination and biological parameters.

RESULTS:

Of 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%.

CONCLUSIONS:

Exchangeable copper appears to be a promising tool for family screening in Wilson disease.

KEYWORDS:

ATP7B; Wilson disease; family screening; relative exchangeable copper

PMID:
24375554
DOI:
10.1002/mds.25763
[Indexed for MEDLINE]

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