Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients

作者：Christopher Zoppo, Josephine Kolstad, Jean M. Johnston, Precilla D’Souza, Anna Luisa Kühn, Zeynep Vardar, Ahmet Peker, Clifford Lindsay, Zubir Rentiya, Robert A. King, Heather L. Gray‐Edwards, Behroze Adi Vachha, Maria T. Acosta, Cynthia J. Tifft, Mohammed Salman Shazeeb · 发表于：Frontiers in Neuroimaging · 年份：2024 · DOI：10.3389/fnimg.2024.1410848 · 被引用次数：6 · 研究领域：Lysosomal Storage Disorders Research、Glycogen Storage Diseases and Myoclonus、Glycosylation and Glycoproteins Research

Purpose GM1-gangliosidosis (GM1) leads to extensive neurodegenerative changes and atrophy that precludes the use of automated MRI segmentation techniques for generating brain volumetrics. We developed a standardized segmentation protocol for brain MRIs of patients with type II GM1 and then assessed the inter- and intra-rater reliability of this methodology. The volumetric data may be used as a biomarker of disease burden and progression, and standardized methodology may support research into the natural history of the disease which is currently lacking in the literature. Approach Twenty-five brain MRIs were included in this study from 22 type II GM1 patients of which 8 were late-infantile subtype and 14 were juvenile subtype. The following structures were segmented by two rating teams on a slice-by-slice basis: whole brain, ventricles, cerebellum, lentiform nucleus, thalamus, corpus callosum, and caudate nucleus. The inter- and intra-rater reliability of the segmentation method was assessed with an intraclass correlation coefficient as well as Sorensen-Dice and Jaccard coefficients. Results Based on the Sorensen-Dice and Jaccard coefficients, the inter- and intra-rater reliability of the segmentation method was significantly better for the juvenile patients compared to late-infantile (p < 0.01). In addition, the agreement between the two rater teams and within themselves can be considered good with all p-values < 0.05. Conclusions The standardized segmentation approach descri...