Shi Chang-He, Zhang Shu-Yu, Yang Zhi-Hua, Yang Jing, Shang Dan-Dan, Mao Cheng-Yuan, Liu Hao, Hou Hai-Man, Shi Meng-Meng, Wu Jun, Xu Yu-Ming
Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
Institute of Clinical Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
Mov Disord. 2016 Dec;31(12):1905-1909. doi: 10.1002/mds.26828.
Mutations in RAB39B have been reported as a potential cause of X-linked Parkinson's disease (PD), a rare form of familial PD. We conducted a genetic analysis on RAB39B to evaluate whether RAB39B mutations are related to PD in the Chinese population.
In this study, 2 patients from an X-linked juvenile parkinsonism pedigree were clinically characterized and underwent whole-exome sequencing. A comprehensive screening for RAB39B mutations in 505 sporadic patients with PD and 510 healthy controls in a Chinese population was also performed.
A novel mutation, c. 536dupA (p.E179fsX48), in RAB39B was identified in the juvenile parkinsonism pedigree. Brain MRI and CT scans in the 2 patients revealed calcification within the bilateral globus pallidus. No other potentially disease-causing RAB39B mutations were found in sporadic PD patients and controls.
X-linked juvenile parkinsonism could be caused by a RAB39B mutation, and basal ganglia calcification may be a novel clinical feature of RAB39B-related parkinsonism. © 2016 International Parkinson and Movement Disorder Society.
RAB39B基因的突变已被报道为X连锁帕金森病（PD）的潜在病因，X连锁帕金森病是一种罕见的家族性帕金森病。我们对RAB39B进行了基因分析，以评估RAB39B突变是否与中国人群的帕金森病有关。
在本研究中，对来自一个X连锁青少年帕金森综合征家系的2名患者进行了临床特征分析，并进行了全外显子组测序。还对505例中国散发性帕金森病患者和510例健康对照进行了RAB39B突变的全面筛查。
在青少年帕金森综合征家系中鉴定出RAB39B基因的一个新突变，c.536dupA（p.E179fsX48）。这2例患者的脑部MRI和CT扫描显示双侧苍白球钙化。在散发性帕金森病患者和对照中未发现其他可能致病的RAB39B突变。
X连锁青少年帕金森综合征可能由RAB39B突变引起，基底节钙化可能是RAB39B相关帕金森综合征的一个新的临床特征。©2016国际帕金森病和运动障碍协会。
