Primary progressive multiple sclerosis developing in the context of young onset Parkinson's disease
Primary progressive multiple sclerosis developing in the context of young onset Parkinson's disease
复制标题
DOI：
10.1177/1352458512445942
复制
发表时间：
2013-01-01
影响因子：
5.8
通讯作者：
Muraro, Paolo A.
中科院分区：
文献类型：
--
作者：
Sadnicka, Anna;Sheerin, Una-Marie;Muraro, Paolo A.
我们报告一例年轻发病的帕金森氏病(PD)患者，Parkin基因杂合点突变(c.1000C>；T；p.Arg334Cys)。8年后，他出现了锥体体征，重新检查显示，核磁共振和实验室结果支持诊断为多发性硬化症(MS)，并有初级进行性(PP)临床病程。这是一种未被描述的早发性帕金森病与PPMS的关联。成像清楚地将每种疾病的发生时间定为不同的时间现象。目前还没有证据表明这两种神经疾病之间存在共同的病因或发病机制，但我们将感兴趣地关注帕金森病在帕金森氏病和多发性硬化症中的新出现的遗传特征。
We report a patient with young onset Parkinson's disease (PD) and a heterozygous point mutation in parkin (c.1000C > T; p.Arg334Cys). After 8 years he developed pyramidal signs and reinvestigation demonstrated MRI and laboratory findings supportive of a diagnosis of multiple sclerosis (MS) with a primary progressive (PP) clinical course. This is a previously un-described association of young onset PD with PPMS. Imaging clearly dates the occurrence of each disease as chronologically separate phenomena. There is not currently evidence for shared causation or pathogenesis between the two neurological disorders but we will follow with interest the emerging genetic characterization of parkin in both PD and MS.