Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings is different from Wilson disease and not involved in ATP7B mutation
| Autor: | Z. Xiaomin, C. Jie, J. Lirong, M. Yu, J. Jianjun, M. Yueshi, F. Guoqiang, Z. Chunjiu, D. Jihong, P. Xiaoli, M. Zhenyao, Z. Yuhao, Z. Hua, Z. Yuwen |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Adolescent DNA Mutational Analysis Nonsense mutation Single-nucleotide polymorphism Disease medicine.disease_cause Diagnosis Differential Serum ceruloplasmin Hepatolenticular Degeneration Internal medicine medicine Humans Nucleotide Cation Transport Proteins Adenosine Triphosphatases chemistry.chemical_classification Analysis of Variance Mutation Movement Disorders Atp7b gene Staining and Labeling business.industry Ceruloplasmin Middle Aged Fleischer Endocrinology Neurology chemistry Copper-Transporting ATPases Female Neurology (clinical) business Copper |
| Zdroj: | European Journal of Neurology. 16:1130-1137 |
| ISSN: | 1468-1331 1351-5101 |
| DOI: | 10.1111/j.1468-1331.2009.02733.x |
| Popis: | 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 ( |
| Databáze: | OpenAIRE |
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