中年女性痉挛性截瘫的一个未被充分认识的病因。
An under-recognised cause of spastic paraparesis in middle-aged women.
作者信息
Bargiela D, Eglon G, Horvath R, Chinnery P F
机构信息
Institute of Genetic Medicine, Newcastle University, Central Parkway, , Newcastle upon Tyne, UK.
出版信息
Pract Neurol. 2014 Jun;14(3):182-4. doi: 10.1136/practneurol-2013-000662. Epub 2013 Oct 23.
Abstract
Having excluded common structural, inflammatory and vascular causes of a spastic paraparesis, the diagnostic yield of further clinical investigations is low. Here, we show that testing for rare metabolic and genetic causes can have important implications for both the patient and their family.
摘要
在排除了痉挛性截瘫常见的结构、炎症和血管病因后，进一步临床检查的诊断率较低。在此，我们表明，对罕见代谢和遗传病因进行检测对患者及其家庭可能具有重要意义。
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