澳大利亚首例X连锁肌张力障碍帕金森综合征（XDP）或“鲁巴格病”病例报告。
First case report of X linked dystonia parkinsonism (XDP) or 'lubag' in Australia.
作者信息
Plummer C, Bradfield J, Singleton A B, Hernandez D, Singleton A A, O'sullivan J
机构信息
St Vincent's Hospital, Melbourne, Victoria, Australia.
出版信息
J Clin Neurosci. 2005 Nov;12(8):945-6. doi: 10.1016/j.jocn.2004.10.012. Epub 2005 Oct 20.
PURPOSE
To present the first genetically supported case of X linked dystonia parkinsonism (XDP) or 'lubag' reported in an Australian hospital.
METHODS
We performed PCR amplification of microsatellite markers in and around the previously described segregating region for the XDP haplotype.
RESULTS
Linkage was confirmed using markers ZNF261, DXS10017, and DXS10018.
CONCLUSION
We present the first case of XDP or 'lubag' reported in an Australian hospital. It highlights the enlarging role of genetic testing in facilitating the diagnosis of dystonia in a clinical environment where a disease like XDP is rare, and where a corroborating family history may be unavailable.
目的
介绍在澳大利亚一家医院报告的首例有基因支持的X连锁肌张力障碍帕金森综合征（XDP）或“鲁巴格病”病例。
方法
我们对先前描述的XDP单倍型分离区域内及周围的微卫星标记进行了PCR扩增。
结果
使用标记ZNF261、DXS10017和DXS10018确认了连锁关系。
结论
我们报告了澳大利亚一家医院首例XDP或“鲁巴格病”病例。它凸显了基因检测在临床环境中促进肌张力障碍诊断方面日益重要的作用，在这种临床环境中，像XDP这样的疾病很罕见，而且可能没有确凿的家族病史。
Zotero 插件