摘要
先天性脑神经异常支配眼病(CCDDs)为一组先天性、非进行性一条或多条脑神经发育异常或缺失,从而导致的原发或继发脑神经异常支配眼外肌的斜视综合征,可散发或家族遗传,可伴有全身系统异常。近年来随着神经病理学、神经影像学、遗传学的研究进展,不仅明确了CCDDs的病因是神经源性的眼球运动障碍,也发现了CCDDs的致病基因,包括SALL4、HOXA1、KIF21A、PHOX2A、TUBB3及HOXB1等。针对基因突变影响大脑神经发育从而进一步导致先天性脑神经支配异常性病变发生这一问题,文章回顾了近年国内外相关文献,就已知的CCDDs的分子遗传学和神经科学研究进展作一综述,以期为CCDDs的临床和基础研究提供参考。
Congenital cranial dysinnervation disorders(CCDDs)are a group of diseases with congenital non-progressive developmental abnormalities or absence of one or more cranial nerves,resulting in primary or secondary abnormalities of cranial nerves innervating the extraocular muscles.CCDDs can be sporadic or hereditary,and may be accompanied by systemic abnormalities.In recent years,with the research progress of neuropathology,neuroimaging,and genetics,it has not only been clarified that the cause of eye movement disorder in CCDDs is neurogenic,but also been found the pathogenic genes of CCDDs,including SALL4,HOXA1,KIF21A,PHOX2A,TUBB3,and HOXB1,etc.In this review,the relevant domestic and international literatures on the molecular genetics and neuroscience of CCDDs in recent years are reviewed,aiming to address how the causing gene mutations of CCDDs affect brain neural development and further lead to congenital abnormal cranial nerve innervation,in order to provide references for the clinical and basic research of CCDDs.
作者
叶京京
王梦迪
史学锋
Ye Jingjing;Wang Mengdi;Shi Xuefeng(Tianjin Eye Hospital,Tianjin Eye Institute,Tianjin Key Laboratory of Ophthalmology and Visual Science,Tianjin 300020,China;Shandong University of Traditional Chinese Medicine,Jinan 250014,Shandong Province,China;Affiliated Eye Hospital of Shandong University of Traditional Chinese Medicine,Shandong Provincial Key Laboratory of Integrated Traditional Chinese and Western Medicine for Prevention and Therapy of Ocular Diseases,Shandong Academy of Eye Disease Prevention and Therapy,Jinan 250002,Shandong Province,China;Tianjin Medical University,Tianjin 300020,China)
出处
《国际眼科杂志》
CAS
2024年第8期1234-1239,共6页
International Eye Science
基金
国家自然科学基金面上项目(No.81770956,81371049)
天津市“131”创新型人才团队项目(No.201936)
天津市卫生健康科技项目(No.TJWJ2023ZD008)
天津市杰出青年科学基金项目(No.17JCJQJC46000)
天津市卫生计生行业高层次人才选拔培养工程津门医学英才项目
天津市自然科学基金面上项目(No.21JCYBJC00780)
天津市医学重点学科(专科)建设项目(No.TJYXZDXK-016A)。
