A PDGFB mutation causes paroxysmal nonkinesigenic dyskinesia with brain calcification
A PDGFB mutation causes paroxysmal nonkinesigenic dyskinesia with brain calcification
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DOI：
10.1002/mds.26988
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发表时间：
2017-05
期刊：
影响因子：
--
通讯作者：
Jing Yu Liu
中科院分区：
文献类型：
--
作者：
Cheng Wang;Xixiang Ma;Xuan Xu;Benyan Huang;Hao Sun;Lulu Li;Ming Zhang;Jing Yu Liu
阵发性非运动诱发性运动障碍（PNKD）是一种罕见的运动障碍，其特征是不自主运动的发作。PNKD（MR-1）基因突变已被确定为PNKD的主要遗传原因。原发性家族性脑钙化（PFBC）是一种遗传性神经系统疾病，由SLC 20 A2、PDGFRB、PDGFB和XPR 1杂合突变引起。在这里，我们描述了一个中国家庭与3个受影响的个人表现为PNKD与PFBC，这是由错义突变PDGFB。先证者（图1A，II：3）是一名36岁的男性，有20年的肢体不自主运动。不自主运动的发生没有明显的触发因素，主要出现在右侧，持续几秒钟。最初，发作频率为每天>10次，后来随着年龄的增长而减少。目前，袭击事件在1年内只发生过几次。在发作期间，他注意到四肢僵硬，而没有观察到头痛、头晕和记忆丧失。发作间期脑电图正常。36岁时的脑部CT扫描显示严重的双侧钙化，累及苍白球、尾状核、丘脑和皮质下白色物质（图1B）。血清磷酸盐、钙和甲状旁腺激素（PTH）水平正常。患者II：1（图1A）是先证者的姐姐。5岁时，她经历了与先证者相似的不自主肢体运动，主要观察到左侧。发病频率从发病时的每天两到三次下降到第三个十年后的每年几次。她有时也表现出焦虑。40岁时的脑部CT扫描显示苍白球和壳核有多处钙化（图1C）。血清钙、磷酸盐和PTH水平正常。患者III：1（图1A）是一名10岁的男孩，他在1岁时开始出现肢体张力障碍运动。最初，攻击持续几秒钟，每天发生一到两次。随着年龄的增长，他的攻击表1。124例亨廷顿病基因扩增携带者疾病进展指标与血浆细胞因子的关系
Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare movement disorder characterized by episodic attacks of involuntary movements. Mutations in the PNKD (MR-1) gene have been identified as a major genetic cause of PNKD. Primary familial brain calcification (PFBC) is an inheritable neurological disorder caused by heterozygous mutations in SLC20A2, PDGFRB, PDGFB, and XPR1. Here, we describe a Chinese family with 3 affected individuals demonstrating PNKD with PFBC, which is caused by a missense mutation in PDGFB. The proband (Fig. 1A, II:3) is a 36-year-old man who had jerky, involuntary movements of the limbs for 20 years. The involuntary movements occurred without obvious trigger factors and mainly appeared on the right side, lasting for a few seconds. Initially, the frequency of the attacks was >10 times per day, and later reduced with age. At present, the attacks occurred only several times in 1 year. During the episodes, he noted stiffening of the limbs, whereas headache, dizziness, and memory loss were not observed. The interictal EEG was normal. Brain CT scans at the age of 36 revealed severe bilateral calcifications involving globus pallidus, caudate nuclei, thalamus, and subcortical white matter (Fig. 1B). Serum levels of phosphate, calcium, and parathyroid hormone (PTH) were normal. Patient II:1 (Fig. 1A) is the elder sister of the proband. At the age of 5, she experienced involuntary limb movements similar to those of the proband, which were mostly observed on the left side. The frequency of attacks decreased from two to three times per day at onset to several times per year after the third decade. She also showed anxiety sometimes. Brain CT scans at age 40 revealed multiple calcifications in globus pallidus and putamen (Fig. 1C). Serum levels of calcium, phosphate, and PTH were normal. Patient III:1 (Fig. 1A) is a 10-year-old boy who started having dystonic movements of the limbs at the age of 1. Initially, the attacks lasted for a few seconds and occurred one to two times per day. As his age increased, the attacks TABLE 1. Associations between measures of disease progression and plasma cytokines in 124 Huntington’s disease gene expansion carriers
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影响因子：
30.8
作者：
Keller, Annika;Westenberger, Ana;Oliveira, Joao R. M.
通讯作者：
Oliveira, Joao R. M.
影响因子：
8
作者：
Siegfried, G;Basak, A;Khatib, AM
通讯作者：
Khatib, AM
影响因子：
4.1
作者：
M. Alemdar;A. Selek;P. Iseri;H. Efendi;S. Komşuoğlu
通讯作者：
M. Alemdar;A. Selek;P. Iseri;H. Efendi;S. Komşuoğlu
影响因子：
9.9
作者：
Nicolas, Gael;Pottier, Cyril;Campion, Dominique
通讯作者：
Campion, Dominique
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影响因子：
3.5
作者：
Yao Xiang -Ping;Wang Chong;Su Hui-Zhen;Guo Xin-Xin;Lu Ying-Qian;Zhao Miao;Liu Yao-Bin;Lai Jing-Hui;Chen Hai-Ting;Wang Ning;Chen Wan-Jin
通讯作者：
Chen Wan-Jin