Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria

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• 作者：Monica Gagliardi^a ; ^{monicg_2002@yahoo.it} ; Grazia Iannello^a ; ^b ; Carmela Colica^a ; Grazia Annesi^a ; Aldo Quattrone^a ; ^b
• 关键词：Parkinson's disease ; CHCHD2 gene
• 刊名：Neurobiology of Aging
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：50
• 期：Complete
• 页码：169.e5-169.e6
• 全文大小：173 K
• 卷排序：50

文摘

Parkinson's disease (PD) is the most common form of degenerative Parkinsonism with a prevalence of 1% of those older than 65 years. PD is characterized by the combination of slowness of movement (bradykinesia), muscular rigidity, resting tremor, and postural instability. Recently, using a genome-wide linkage analysis and exome sequencing, a group identified a candidate gene (CHCHD2) in a large Japanese family with autosomal dominant Parkinson's disease. The aim of this study was to evaluate the presence of CHCHD2 mutations in a cohort of 165 familial patients with clinically diagnosed PD and 200 control subjects from South Italy. No mutations in CHCHD2 were found in our 165 PD patients. This result suggests that CHCHD2 mutations might not be the common cause of PD in South Italy.