Juvenile-onset parkinsonism with pyramidal signs due to compound heterozygous mutations in the F-Box only protein 7 gene
Juvenile-onset parkinsonism with pyramidal signs due to compound heterozygous mutations in the F-Box only protein 7 gene
复制标题
由于 F-Box 唯一蛋白 7 基因中的复合杂合突变，导致青少年发病的帕金森病，伴有锥体征。
DOI：
10.1016/j.parkreldis.2017.11.332
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发表时间：
2018-02-01
影响因子：
4.1
通讯作者：
Long, Ling
中科院分区：
文献类型：
--
作者：
Wei, Lei;Ding, Li;Long, Ling
背景：青少年发作的帕金森病常由遗传因素引起。包括F-box only protein 7（FBXO 7）基因在内的几种常染色体基因突变已在患有青少年发作型帕金森综合征伴锥体束征的患者中发现。只有五种类型的FBXO 7突变已被描述。在这里，我们提出了一个病例报告，中国患者提出与青少年发作的帕金森综合征可能引起的FBXO 7 mutations.Methods：患者是一个32岁的中国男性。从患者及其父母身上提取了DNA样本。帕金森病相关基因的外显子进行了扩增和测序。结果：病人开始经历了一个渐进的不自主的震颤在他的左手在16岁，其次是步态功能障碍，构音障碍，和快速眼动睡眠行为障碍的发展。患者的神经系统检查显示齿轮强直、运动迟缓、静态和姿势性震颤以及双侧巴宾斯基征。患者对多巴胺能治疗有反应，但受到精神副作用的影响。对患者及其父母的进一步遗传分析显示FBXO 7基因的复合杂合突变（NM_012179.3）患者（无义c.1408G > T（p.E470X）突变和错义c.152A > G（p.E470X）突变）（p.N51S）突变分别来自患者的母亲和父亲）。这是中国人群中首例携带FBXO 7突变的青少年发作型帕金森综合征病例。(C)2017爱思唯尔有限公司版权所有
Background: Juvenile-onset parkinsonisrdis often caused by genetic factors. Mutations in several autosomal genes, including the F-box only protein 7 (FBXO7) gene, have been found in patients suffering from juvenile-onset parkinsonism with pyramidal signs. Only five types of FBXO7 mutations have been described. Here, we present a case report about a Chinese patient presenting with juvenile-onset parkinsonism likely caused by FBXO7 mutations.Methods: The patient was a 32-year-old Chinese male. DNA samples were extracted from the patient and his parents. Exons in parkinsonism-related genes were amplified and sequenced.Results: The patient began experiencing a progressive involuntary tremor in his left hand at 16 years of age, which was followed by the development of gait dysfunction, dysarthria, and rapid eye movement sleep behavior disorder. A neurological examination of the patient revealed cogwheel rigidity, bradykinesia, static and postural tremor and bilateral Babinski signs. The patient responded to dopaminergic therapies but was affected by psychiatric side effects. Further genetic analysis of the patient and his parents revealed compound heterozygous mutations of the FBXO7 gene (NM_012179.3) in the patient (a nonsense c.1408G > T (p.E470X) mutation and a missense c.152A > G (p.N51S) mutation coming from the patient's mother and father, respectively).Conclusions: This is the first case harboring FBXO7 mutations that presented with juvenile-onset parkinsonism in the Chinese population. (C) 2017 Elsevier Ltd. All rights reserved.