Emerging Monogenic Complex Hyperkinetic Disorders.
Emerging Monogenic Complex Hyperkinetic Disorders.
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DOI：
10.1007/s11910-017-0806-2
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发表时间：
2017-10-30
影响因子：
5.6
通讯作者：
Mencacci NE
中科院分区：
文献类型：
--
作者：
Carecchio M;Mencacci NE
多动障碍可以单独表现，也可以表现为复杂表型的一部分。在下一代测序(NGS)时代，单基因复杂运动障碍的名单正在迅速增长。本综述将探讨这些新发现的疾病的主要特征。ADCY5和PDE10A的突变已被确认为儿童期起病的运动障碍的重要原因，KMT2B突变是儿童复杂性肌张力障碍最常见的原因之一。与ATP1A3、FOXG1、GNAO1、GRIN1、FRRS1L和TBC1D24突变相关的表型谱的描绘揭示了癫痫脑病、发育迟缓/智能障碍和多动运动障碍之间不断扩大的遗传重叠。多亏了NGS，一些复杂的多动运动障碍的病因学已经被阐明。重要的是，NGS正在改变临床医生诊断这些复杂疾病的方式。共同的分子通路参与了大脑发育的早期阶段和正常的突触传递，是基底节功能障碍、癫痫和其他神经发育障碍的基础。
Hyperkinetic movement disorders can manifest alone or as part of complex phenotypes. In the era of next-generation sequencing (NGS), the list of monogenic complex movement disorders is rapidly growing. This review will explore the main features of these newly identified conditions. Mutations in ADCY5 and PDE10A have been identified as important causes of childhood-onset dyskinesias and KMT2B mutations as one of the most frequent causes of complex dystonia in children. The delineation of the phenotypic spectrum associated with mutations in ATP1A3, FOXG1, GNAO1, GRIN1, FRRS1L, and TBC1D24 is revealing an expanding genetic overlap between epileptic encephalopathies, developmental delay/intellectual disability, and hyperkinetic movement disorders,. Thanks to NGS, the etiology of several complex hyperkinetic movement disorders has been elucidated. Importantly, NGS is changing the way clinicians diagnose these complex conditions. Shared molecular pathways, involved in early stages of brain development and normal synaptic transmission, underlie basal ganglia dysfunction, epilepsy, and other neurodevelopmental disorders.
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影响因子：
11.2
作者：
Chen, Ying-Zhang;Friedman, Jennifer R.;Chen, Dong-Hui;Chan, Guy C. -K.;Bloss, Cinnamon S.;Hisama, Fuki M.;Topol, Sarah E.;Carson, Andrew R.;Pham, Phillip H.;Bonkowski, Emily S.;Scott, Erick R.;Lee, Janel K.;Zhang, Guangfa;Oliveira, Glenn;Xu, Jian;Scott-Van Zeeland, Ashley A.;Chen, Qi;Levy, Samuel;Topol, Eric J.;Storm, Daniel;Swanson, Phillip D.;Bird, Thomas D.;Schork, Nicholas J.;Raskind, Wendy H.;Torkamani, Ali
通讯作者：
Torkamani, Ali
影响因子：
14.5
作者：
Brashear, Allison;Dobyns, William B.;Ozelius, Laurie J.
通讯作者：
Ozelius, Laurie J.
影响因子：
3.8
作者：
Ananth, Arnitha L.;Robichaux-Viehoever, Amy;Bernstein, Jonathan A.
通讯作者：
Bernstein, Jonathan A.
影响因子：
3.5
作者：
Chen W;Shieh C;Swanger SA;Tankovic A;Au M;McGuire M;Tagliati M;Graham JM;Madan-Khetarpal S;Traynelis SF;Yuan H;Pierson TM
通讯作者：
Pierson TM
影响因子：
8.6
作者：
Deutschländer, A;Asmus, F;Bötzel, K
通讯作者：
Bötzel, K