A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification
2016; Wiley; Volume: 31; Issue: 12 Linguagem: Inglês
10.1002/mds.26828
ISSN1531-8257
AutoresChanghe Shi, Shuyu Zhang, Zhi-hua Yang, Jing Yang, Dandan Shang, Chengyuan Mao, Hao Liu, Haiman Hou, Mengmeng Shi, Jun Wu, Yuming Xu,
Tópico(s)Neurological diseases and metabolism
ResumoMovement DisordersVolume 31, Issue 12 p. 1905-1909 Brief Report A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification Chang-he Shi MD, PhD, Chang-he Shi MD, PhD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China Chang-he Shi and Shu-yu Zhang contributed equally to this article.Search for more papers by this authorShu-yu Zhang MD, Shu-yu Zhang MD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China Chang-he Shi and Shu-yu Zhang contributed equally to this article.Search for more papers by this authorZhi-hua Yang MD, Zhi-hua Yang MD 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, ChinaSearch for more papers by this authorJing Yang MD, PhD, Jing Yang MD, PhD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaSearch for more papers by this authorDan-dan Shang MD, Dan-dan Shang MD Department of Neurology, Luoyang Central Hospital Affiliated to Zhengzhou University, Luoyang, Henan, ChinaSearch for more papers by this authorCheng-yuan Mao MD, Cheng-yuan Mao MD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaSearch for more papers by this authorHao Liu MD, Hao Liu MD Department of MRI, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaSearch for more papers by this authorHai-man Hou MD, Hai-man Hou MD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaSearch for more papers by this authorMeng-meng Shi MD, Meng-meng Shi MD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaSearch for more papers by this authorJun Wu MD, PhD, Jun Wu MD, PhD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaSearch for more papers by this authorYu-ming Xu MD, PhD, Corresponding Author Yu-ming Xu MD, PhD xuyuming@zzu.edu.cn Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaCorresponding author: Dr. Yu-ming Xu, Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she East Road, Zhengzhou 450000, Henan, China; xuyuming@zzu.edu.cnSearch for more papers by this author Chang-he Shi MD, PhD, Chang-he Shi MD, PhD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China Chang-he Shi and Shu-yu Zhang contributed equally to this article.Search for more papers by this authorShu-yu Zhang MD, Shu-yu Zhang MD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China Chang-he Shi and Shu-yu Zhang contributed equally to this article.Search for more papers by this authorZhi-hua Yang MD, Zhi-hua Yang MD 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, ChinaSearch for more papers by this authorJing Yang MD, PhD, Jing Yang MD, PhD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaSearch for more papers by this authorDan-dan Shang MD, Dan-dan Shang MD Department of Neurology, Luoyang Central Hospital Affiliated to Zhengzhou University, Luoyang, Henan, ChinaSearch for more papers by this authorCheng-yuan Mao MD, Cheng-yuan Mao MD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaSearch for more papers by this authorHao Liu MD, Hao Liu MD Department of MRI, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaSearch for more papers by this authorHai-man Hou MD, Hai-man Hou MD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaSearch for more papers by this authorMeng-meng Shi MD, Meng-meng Shi MD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaSearch for more papers by this authorJun Wu MD, PhD, Jun Wu MD, PhD Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaSearch for more papers by this authorYu-ming Xu MD, PhD, Corresponding Author Yu-ming Xu MD, PhD xuyuming@zzu.edu.cn Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaCorresponding author: Dr. Yu-ming Xu, Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she East Road, Zhengzhou 450000, Henan, China; xuyuming@zzu.edu.cnSearch for more papers by this author First published: 09 December 2016 https://doi.org/10.1002/mds.26828Citations: 32 Funding agencies: : The work was supported by Grants 81530037 and 81471158 from the National Natural Science Foundation of China (to Y.X.) and Grant U1404311 from the National Natural Science Foundation of China (to C.S.). Relevant conflicts of interests/financial disclosures: : Nothing to report. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat ABSTRACT Objectives 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. Methods 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. Results 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. Conclusions 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. Citing Literature Supporting Information Additional Supporting Information may be found in the online version of this article at the publisher's web-site. Filename Description mds26828-sup-0001-suppinfotab01.doc115 KB Supplementary Information Table 1. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. Volume31, Issue12December 2016Pages 1905-1909 RelatedInformation
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