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Genetic pathways in cerebral palsy:a review of the implications for precision diagnosis and understanding disease mechanisms

摘要Cerebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and posture.Patients with cerebral palsy are often only capable of limited activity,resulting from non-progressive disturbances in the fetal or neonatal brain.These disturbances severely impact the child's daily life and impose a substantial economic burden on the family.Although cerebral palsy encompasses various brain injuries leading to similar clinical outcomes,the understanding of its etiological pathways remains incomplete owing to its complexity and heterogeneity.This review aims to summarize the current knowledge on the genetic factors influencing cerebral palsy development.It is now widely acknowledged that genetic mutations and alterations play a pivotal role in cerebral palsy development,which can be further influenced by environmental factors.Despite continuous research endeavors,the underlying factors contributing to cerebral palsy remain are still elusive.However,significant progress has been made in genetic research that has markedly enhanced our comprehension of the genetic factors underlying cerebral palsy development.Moreover,these genetic factors have been categorized based on the identified gene mutations in patients through clinical genotyping,including thrombosis,angiogenesis,mitochondrial and oxidative phosphorylation function,neuronal migration,and cellular autophagy.Furthermore,exploring targeted genotypes holds potential for precision treatment.In conclusion,advancements in genetic research have substantially improved our understanding of the genetic causes underlying cerebral palsy.These breakthroughs have the potential to pave the way for new treatments and therapies,consequently shaping the future of cerebral palsy research and its clinical management.The investigation of cerebral palsy genetics holds the potential to significantly advance treatments and management strategies.By elucidating the underlying cellular mechanisms,we can develop targeted interventions to optimize outcomes.A continued collaboration between researchers and clinicians is imperative to comprehensively unravel the intricate genetic etiology of cerebral palsy.

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作者 Yiran Xu [1] Yifei Li [2] Seidu A.Richard [3] Yanyan Sun [2] Changlian Zhu [4] 学术成果认领
作者单位 Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center,Institute of Neuroscience and The Third Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan Province,China;National Health Council(NHC)Key Laboratory of Birth Defects Prevention,Henan Key Laboratory of Population Defects Prevention,Zhengzhou,Henan Province,China [1] Department of Human Anatomy,School of Basic Medicine and Institute of Neuroscience,Zhengzhou University,Zhengzhou,Henan Province,China [2] Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center,Institute of Neuroscience and The Third Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan Province,China [3] Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center,Institute of Neuroscience and The Third Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan Province,China;Center for Brain Repair and Rehabilitation,Institute of Neuroscience and Physiology,University of Gothenburg,Gothenburg,Sweden [4]
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DOI 10.4103/1673-5374.385855
发布时间 2023-12-29(万方平台首次上网日期,不代表论文的发表时间)
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中国神经再生研究(英文版)

中国神经再生研究(英文版)

2024年19卷7期

1499-1508页

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