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Review
. 2022 Apr 5:16:835964.
doi: 10.3389/fnins.2022.835964. eCollection 2022.

Quantitative Structural Brain Magnetic Resonance Imaging Analyses: Methodological Overview and Application to Rett Syndrome

Tadashi Shiohama  1 , Keita Tsujimura  2   3   4   5
Affiliations
Review

Quantitative Structural Brain Magnetic Resonance Imaging Analyses: Methodological Overview and Application to Rett Syndrome

Tadashi Shiohama et al. Front Neurosci. .

Abstract

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.

Keywords: diffusion-weighted MRI tractography; quantitative analysis; rett syndrome (RTT); surface based morphometry; voxel based morphometry.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
HARDI-based tractography showing the callosal pathway and long association fibers in a 2.5-year-old neurotypical girl [reproduced with permission to reuse after minor revisions (Shiohama et al., 2020)]. AF, arcuate fasciculus; CF, cingulum fasciculus; CP, callosal pathway; Fx, fornix; IFOF, inferior fronto-occipital fasciculus; ILF inferior longitudinal fasciculus; UF, uncinate fasciculus.
See this image and copyright information in PMC

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