脑瘫的新兴基因图谱。
The emerging genetic landscape of cerebral palsy.
作者信息
van Eyk C L, Corbett M A, Maclennan A H
机构信息
Australian Collaborative Cerebral Palsy Research Group, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.
Australian Collaborative Cerebral Palsy Research Group, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.
出版信息
Handb Clin Neurol. 2018;147:331-342. doi: 10.1016/B978-0-444-63233-3.00022-1.
Cerebral palsy (CP) is a broad clinical descriptor that encompasses a heterogeneous group of nonprogressive neurodevelopmental disabilities affecting movement and posture. While linked by the presence of damage to the developing brain, the etiology of CP is likely varied and the clinical outcomes are diverse. There is now a large body of evidence supporting a significant role for genetics in causation of CP. An increasing number of studies have identified likely causative genetic variants in families with CP, as well as in individual sporadic cases. Next-generation sequencing is now aiding clinicians in making specific molecular diagnoses, providing future opportunities for tailored treatments and for informed reproductive decisions.
脑瘫（CP）是一个宽泛的临床描述词，涵盖了一组影响运动和姿势的异质性非进行性神经发育障碍。虽然都与发育中的大脑受损有关，但脑瘫的病因可能各不相同，临床结果也多种多样。现在有大量证据支持遗传学在脑瘫病因中起重要作用。越来越多的研究已经在脑瘫家庭以及个别散发病例中确定了可能的致病基因变异。新一代测序技术目前正在帮助临床医生做出具体的分子诊断，为量身定制的治疗以及明智的生殖决策提供了未来机会。
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