Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort

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• 作者：Hsien-Han Lin^a ; Ruey-Meei Wu^b ; Han-I. Lin^b ; Meng-Ling Chen^b ; Chun-Hwei Tai^b ; Chin-Hsien Lin^b ; ^{chlin@ntu.edu.tw}
• 关键词：Parkinson's disease ; RAB38B ; Ras-related protein ; Taiwanese ; Chinese
• 刊名：Neurobiology of Aging
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：50
• 期：Complete
• 页码：169.e3-169.e4
• 全文大小：193 K
• 卷排序：50

文摘

Loss of function mutations in RAB39B were recently linked to X-linked recessive early-onset Parkinsonism with variable degrees of intellectual dysfunction. Postmortem examination of the brain biopsy from a patient carrying the gene deletion revealed widespread α-synuclein pathology. However, subsequent analyses reported conflict results to replicate the role of RAB39B mutations in patients with early-onset Parkinsonism. The aim of this study was to address the genetic contribution of RAB39B in early-onset and familial Parkinson's disease (PD) in a Taiwanese population. Among 466 subjects, we sequenced both the exons and exon-intron boundaries of RAB39B from 235 patients with early-onset PD (age of onset <50 years), 119 probands with familial PD, and 112 ethnicity-matched control subjects. We did not find any coding variants or previously reported mutations, suggesting that RAB39B mutations are not a common cause of early-onset or familial PD in our Taiwanese population.