The synucleins are a family of redox active copper binding

Diagnostic investigations
Ophthalmological and laboratory investigations
Table 2.
Scoring system for Wilson\'s disease diagnosis developed by attendees at q vd oph international Wilson\'s disease meeting in Leipzig, Germany, in 2001Diagnosis scoreKayser-Fleischer ringsPresent2Absent0Neurological symptoms*Severe2Mild1Absent0Serum ceruloplasminNormal (>200 mg/L)0100–200 mg/L1<100 mg/L2Haemolytic anaemiaPresent1Absent0Liver copper (in absence of cholestasis)>5 × ULN (>250 μg/g)250–250 μg/g1Normal (<50 μg/g)−1Rhodanine positive granules†1Urinary copper (in absence of acute hepatitis)Normal01–2 × ULN1>2 × ULN2Normal, but >5 × ULN after penicillamine2Mutation analysisHomozygous4Heterozygous1No mutations detected0ULN=upper limit of normal.*Typical abnormalities on brain MRI.†If no quantitative liver copper available. 4 or more=diagnosis established. 3=diagnosis possible, more tests needed. 2 or less=diagnosis very unlikely.Full-size tableTable optionsView in workspaceDownload as CSV