先天性脑神经异常支配眼病的分子遗传学与神经科学研究进展

Research progress on the molecular genetics and neuroscience of congenital cranial dysinnervation disorders

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。

Abstract:

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.