Shiohama Tadashi, Tsujimura Keita
Department of Pediatrics, Chiba University Hospital, Chiba, Japan.
Group of Brain Function and Development, Nagoya University Neuroscience Institute of the Graduate School of Science, Nagoya, Japan.
Front Neurosci. 2022 Apr 5;16:835964. doi: 10.3389/fnins.2022.835964. eCollection 2022.
Congenital genetic disorders often present with neurological manifestations such as neurodevelopmental disorders, motor developmental retardation, epilepsy, and involuntary movement. Through qualitative morphometric evaluation of neuroimaging studies, remarkable structural abnormalities, such as lissencephaly, polymicrogyria, white matter lesions, and cortical tubers, have been identified in these disorders, while no structural abnormalities were identified in clinical settings in a large population. Recent advances in data analysis programs have led to significant progress in the quantitative analysis of anatomical structural magnetic resonance imaging (MRI) and diffusion-weighted MRI tractography, and these approaches have been used to investigate psychological and congenital genetic disorders. Evaluation of morphometric brain characteristics may contribute to the identification of neuroimaging biomarkers for early diagnosis and response evaluation in patients with congenital genetic diseases. This mini-review focuses on the methodologies and attempts employed to study Rett syndrome using quantitative structural brain MRI analyses, including voxel- and surface-based morphometry and diffusion-weighted MRI tractography. The mini-review aims to deepen our understanding of how neuroimaging studies are used to examine congenital genetic disorders.
先天性遗传疾病常伴有神经学表现，如神经发育障碍、运动发育迟缓、癫痫和不自主运动。通过对神经影像学研究进行定性形态计量学评估，已在这些疾病中发现了显著的结构异常，如无脑回畸形、多小脑回畸形、白质病变和皮质结节，而在大量人群的临床检查中未发现结构异常。数据分析程序的最新进展已在解剖结构磁共振成像（MRI）和扩散加权MRI纤维束成像的定量分析方面取得了重大进展，这些方法已被用于研究心理和先天性遗传疾病。评估形态计量学脑特征可能有助于识别先天性遗传疾病患者早期诊断和反应评估的神经影像学生物标志物。本综述聚焦于使用定量结构脑MRI分析（包括基于体素和表面的形态测量以及扩散加权MRI纤维束成像）来研究雷特综合征所采用的方法和尝试。本综述旨在加深我们对神经影像学研究如何用于检查先天性遗传疾病的理解。
