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与NAA10和NAA15相关的神经发育综合征的神经解剖学特征

Rahi Patel¹, Rikhil Makwana¹, Carolina Christ¹

¹Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.

medRxiv : the preprint server for health sciences

|July 9, 2024

概括

奥格登综合征 (NAA10) 和NAA15神经发育综合征在成像上显示微妙的大脑异常. 更多的异常与更差的功能结果相关,特别是在NAA10病例中,随着时间的推移观察到的变化.

科学领域:

神经成像是一种神经成像.
遗传学是一个遗传学.
发展生物学发展生物学

背景情况:

与NAA10 (奥格登综合征) 和NAA15相关的疾病会导致智力障碍,低血压和发育迟缓.
这些神经发育综合征的放射学数据有限,尽管已知临床表现.

研究的目的:

分析NAA10和NAA15变体患者的神经成像发现.
评估放射性异常的严重程度和普遍性以及它们随时间的变化.
为了更好地了解NAA10和NAA15相关的神经发育综合征的病理生理学.

主要方法:

从26个试验对象 (18个NAA10,8个NAA15变体) 的神经成像研究的回顾性分析.
评估大脑结构,髓化,形和特定异常.
影像检查结果与临床病史和Vineland 3适应性行为量表得分的相关性.

主要成果:

与NAA15相关综合征 (2.8) 相比,患有奥格登综合征的个体具有显著更多的解剖异常 (5.7).
在Vineland评估中观察到解剖异常数量和较差的功能评分之间的相关性.
纵向随访显示小脑,脑干和髓化的变化,主要是在NAA10变异病例中.

结论:

在NAA10和NAA15相关的神经发育综合征中存在微妙的神经解剖学异常,通常在常规临床成像中错过.
这些发现强调了详细的神经放射学分析对于诊断和了解疾病进展的重要性.
这项研究为这些罕见遗传疾病的未来研究和诊断方法提供了基础.

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