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PD Prodromal – Braak Staging — SCE Neurology MCQ

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HardNeurodegenerative DiseasePD Prodromal – Braak StagingSCE Neurology

A 23-year-old with tremor, dysarthria and psychiatric change has Kayser–Fleischer rings, typical basal-ganglia MRI abnormalities, serum ceruloplasmin 0.08 g/L and 24-hour urinary copper more than twice the upper reference limit. What is the Leipzig score and interpretation?

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Correct answer: D — Leipzig score 8, establishing Wilson disease without requiring liver biopsy

Explanation lettering: D = shown as A · E = shown as C · A = shown as D · C = shown as E

A is correct. Kayser–Fleischer rings score 2, typical neurological/MRI involvement 2, ceruloplasmin below 0.1 g/L 2 and urinary copper above twice the upper limit 2: total 8. A Leipzig score of at least 4 establishes the diagnosis. B and C undercount. D invents a genetic requirement despite a diagnostic phenotypic score. E incorrectly awards points for age.

Reference: EASL-ERN Wilson disease guideline: https://www.sciencedirect.com/science/article/pii/S0168827824027065