Skirball Institute of Biomolecular Medicine and Department of Radiology, New York University School of Medicine, New York, NY, USA; Biomedical Imaging & Technology Graduate Program, New York University School of Medicine, USA.
Mouse Imaging Centre, The Hospital for Sick Children, Toronto, Canada.
Neuroimage. 2020 Aug 15;217:116894. doi: 10.1016/j.neuroimage.2020.116894. Epub 2020 May 15.
Niemann-Pick Type C (NPC) is a rare genetic disorder characterized by progressive cell death in various tissues, particularly in the cerebellar Purkinje cells, with no known cure. Mouse models for human NPC have been generated and characterized histologically, behaviorally, and using longitudinal magnetic resonance imaging (MRI). Previous imaging studies revealed significant brain volume differences between mutant and wild-type animals, but stopped short of making volumetric comparisons of the cerebellar sub-regions. In this study, we present longitudinal manganese-enhanced MRI (MEMRI) data from cohorts of wild-type, heterozygote carrier, and homozygote mutant NPC mice, as well as deformation-based morphometry (DBM) driven brain volume comparisons across genotypes, including the cerebellar cortex, white matter, and nuclei. We also present the first comparisons of MEMRI signal intensities, reflecting brain and cerebellum sub-regional Mn-uptake over time and across genotypes.
尼曼-皮克 C 型（NPC）是一种罕见的遗传疾病，其特征是各种组织中的细胞进行性死亡，特别是小脑浦肯野细胞，目前尚无治愈方法。已经生成了人类 NPC 的小鼠模型，并在组织学、行为学以及使用纵向磁共振成像（MRI）方面进行了特征描述。先前的影像学研究表明，突变体和野生型动物之间的大脑体积存在显著差异，但未能对小脑亚区进行体积比较。在这项研究中，我们提供了来自野生型、杂合子携带者和纯合子突变 NPC 小鼠队列的纵向锰增强 MRI（MEMRI）数据，以及基于变形的形态计量学（DBM）驱动的基因型间大脑体积比较，包括小脑皮质、白质和核。我们还首次比较了 MEMRI 信号强度，反映了脑和小脑亚区随时间和基因型的锰摄取情况。
