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Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings is different from Wilson disease and
1Department of Neurology, Zhongshan Hospital, Fudan University, Shangai, China.
Objective:
To explore the relationship between hypoceruloplasminemia-related movement disorder (HCMD) without Kayser-Fleischer rings in Wilson disease (WD) and ATP7B gene mutation.
Methods:
Clinical feature, serum ceruloplasmin (CP), total serum copper, non-CP-bound serum copper (nCC), urine copper, and ATP7B gene sequence were investigated in 24 patients with HCMD.
Results:
The patients with HCMD exhibited a long-term stable course of diseases. Serum CP in HCMD group (0.178 +/- 0.025 g/l) was lower than healthy control group (0.291 +/- 0.049 g/l, P < 0.05). Total serum copper in HCMD group was 0.578 +/- 0.284 microg/l and was lower than normal lower limit obviously (
Conclusion:
Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings, which exhibits mild low serum CP and a long-term stability of disease course, is different from WD and not associated with ATP7B gene mutation. Further investigation of molecular biology should be encouraged.
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