A new F-box protein 7 gene mutation causing typical Parkinson's disease
A new F-box protein 7 gene mutation causing typical Parkinson's disease
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DOI：
10.1002/mds.26266
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发表时间：
2015-07-01
影响因子：
8.6
通讯作者：
Brice, Alexis
中科院分区：
文献类型：
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作者：
Lohmann, Ebba;Coquel, Anne-Sophie;Brice, Alexis
背景F-box蛋白7基因（FBXO 7; PARK 15）的隐性突变已被确定为帕金森-锥体综合征的病因。在这里，我们报告的临床和遗传研究结果在土耳其家庭与新FBXO 7 mutations.MethodsWhole外显子组和有针对性的桑格测序进行遗传分析，在一个家庭中有两个成员受帕金森氏病（PD）。所有家庭成员都接受了详细的临床、精神和神经系统检查。（c.101T>G）FBXO 7突变在两个土耳其同胞中检测到纯合子状态，具有典型的左旋多巴反应性PD.ConclusionThis是第一次FBXO 7突变已被确定，导致与典型的特发性PD相容的表型，并呈现出一些常见的非运动特征，例如快速眼动睡眠行为障碍、抑郁和焦虑。(c)2015年国际帕金森和运动障碍协会
BackgroundRecessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.MethodsWhole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD). All family members underwent detailed clinical, mental, and neurological examination.ResultsThe new p.L34R (c.101 T>G) FBXO7 mutation was detected in a homozygous state in two Turkish sibs with typical levodopa-responsive PD.ConclusionThis is the first time a FBXO7 mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety. (c) 2015 International Parkinson and Movement Disorder Society