拉索病对儿童神经解剖学变异的影响
Chloe Alexa McGhee1, Hamed Honari1, Monica Siqueiros-Sanchez1
1Department of Psychiatry & Behavioral Sciences, Stanford University, Stanford, California.
概括
像努南综合症和NF1这样的RAS病症会影响大脑发育,导致皮质表面积和厚度的共同变化. 这些情况还导致皮层下大脑体积的明显变化,影响特定的大脑结构.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 拉索病是一种由Ras/mitogen-activated protein kinase (Ras/MAPK) 信号通路的突变引起的遗传性疾病.
- 努南综合症 (NS) 和神经纤维素瘤类型1 (NF1) 是不同的RAS病,与自闭症谱系障碍和注意力缺陷/多动性障碍的风险增加有关.
研究的目的:
- 研究RASopathies (NS和NF1) 对人类神经解剖学的影响,重点关注皮质表面积 (SA),皮质厚度 (CT) 和皮质下体积.
- 为了比较患有RAS病的儿童和典型发育的儿童之间的神经解剖学差异.
主要方法:
- 结构T1加权的MRI图像从RAsopathies的儿童 (n=91) 和年龄/性别匹配的典型发育儿童 (n=74) 中获得.
- 基于顶点的分析用于皮质测量 (SA和CT).
- 对于皮层下体积分析,使用了Desikan地区的兴趣分片.
主要成果:
- 拉索病症对SA和CT表现出趋同的效应,在前中心中增加了SA,在部区域减少了SA,在前中心中减少了CT.
- 拉索病症在皮下体积上表现出不同的影响,具有综合征特异性的模式.
- 患有NS的儿童表现出条状体和体结构的体积减少,而患有NF1的儿童表现出海马,杏仁体和体体的体积增加.
结论:
- 拉索病症对人类神经发育有着共同的和独特的神经解剖学影响.
- 皮层SA和CT变化的融合表明,Ras/MAPK通路过度激活对大脑的共同影响.
- 皮层SA和CT措施可以作为针对RAS病的向治疗干预的客观结果指标.
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