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定量合成磁共振成像揭示2型和3型脊髓性肌萎缩症患者的灰质异常。

Quantitative synthetic MRI reveals grey matter abnormalities in patients with spinal muscular atrophy types 2 and 3.

作者信息

Yan Cui, Lan Shasha, Wang Huang, Nie Huirong, Xiang Pei, Xu Boyan, Su Shu, Yang Zhiyun, Tang Wen, Li Yijuan, Liang Yujian, Chen Yingqian

机构信息

Department of Radiology, The First Affiliated Hospital, Sun Yet-sen University, Guangzhou, China.

MR Research China, GE Healthcare, Beijing, China.

出版信息

Quant Imaging Med Surg. 2025 Mar 3;15(3):2319-2328. doi: 10.21037/qims-24-1095. Epub 2025 Feb 26.

DOI:10.21037/qims-24-1095
PMID:40160640
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11948371/
Abstract

BACKGROUND

Several studies have shown that spinal muscular atrophy (SMA) is not limited to lower motor neurons. This cross-sectional study aimed to quantitatively investigate the gray matter (GM) alterations in patients with SMA types 2 and 3.

METHODS

This is a cross-sectional study. T1 and T2 maps that were extracted from synthetic magnetic resonance imaging (SyMRI) were compared between patients with SMA and healthy controls (HC). Between-group comparisons were made between SMA type 2 and type 3. The association between brain regions with significantly altered T1 and T2 values and clinical measurements were evaluated with Pearson correlation analysis.

RESULTS

Compared with HC, patients with SMA showed widespread altered T1 and T2 values in GM, mainly referring to the cerebellum, default mode network, attention and execution control network, and salience network. Negative correlations were found between Hammersmith Functional Motor Scale Expanded (HFMSE) scores and T2 values of the left orbital part of superior frontal gyrus (P=0.013) and the right olfactory cortex (P=0.008) in the patient group.

CONCLUSIONS

Altered T1 and T2 values involving multiple GM regions of the brain demonstrate widespread microscopic alterations in patients with SMA, which might provide an idea for quantitative measurement of SMA nerve damage.

摘要

背景

多项研究表明,脊髓性肌萎缩症(SMA)并不局限于下运动神经元。这项横断面研究旨在定量研究2型和3型SMA患者的灰质(GM)改变。

方法

这是一项横断面研究。比较了SMA患者与健康对照(HC)从合成磁共振成像(SyMRI)中提取的T1和T2图谱。对2型和3型SMA进行了组间比较。采用Pearson相关分析评估T1和T2值有显著改变的脑区与临床测量值之间的关联。

结果

与HC相比,SMA患者的GM中T1和T2值普遍改变,主要涉及小脑、默认模式网络、注意力和执行控制网络以及突显网络。在患者组中,哈默史密斯功能运动量表扩展版(HFMSE)评分与左侧额上回眶部(P = 0.013)和右侧嗅觉皮质(P = 0.008)的T2值之间存在负相关。

结论

涉及大脑多个GM区域的T1和T2值改变表明SMA患者存在广泛的微观改变,这可能为SMA神经损伤的定量测量提供思路。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b519/11948371/687c22c4b8f7/qims-15-03-2319-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b519/11948371/e6b65ddf5d45/qims-15-03-2319-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b519/11948371/5a5fe1731bb6/qims-15-03-2319-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b519/11948371/687c22c4b8f7/qims-15-03-2319-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b519/11948371/e6b65ddf5d45/qims-15-03-2319-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b519/11948371/5a5fe1731bb6/qims-15-03-2319-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b519/11948371/687c22c4b8f7/qims-15-03-2319-f3.jpg

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Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation.同基因患者来源的类器官揭示了脊髓性肌萎缩症起始中的早期神经发育缺陷。
Cell Rep Med. 2024 Aug 20;5(8):101659. doi: 10.1016/j.xcrm.2024.101659. Epub 2024 Jul 26.
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Functional-structural large-scale brain networks are correlated with neurocognitive impairment in acute mild traumatic brain injury.
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Spinal muscular atrophy.脊髓性肌萎缩症。
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Cognitive Impairment in Adult Patients with 5q-Associated Spinal Muscular Atrophy.5q相关脊髓性肌萎缩症成年患者的认知障碍
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