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探索癫痫中基于体素的个体白质异常。

Exploring individual fixel-based white matter abnormalities in epilepsy.

作者信息

Mito Remika, Pedersen Mangor, Pardoe Heath, Parker Donna, Smith Robert E, Cameron Jillian, Scheffer Ingrid E, Berkovic Samuel F, Vaughan David N, Jackson Graeme D

机构信息

Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria 3084, Australia.

Florey Department of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria 3010, Australia.

出版信息

Brain Commun. 2023 Dec 22;6(1):fcad352. doi: 10.1093/braincomms/fcad352. eCollection 2024.


DOI:10.1093/braincomms/fcad352
PMID:38187877
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10768884/
Abstract

Diffusion MRI has provided insight into the widespread structural connectivity changes that characterize epilepsies. Although syndrome-specific white matter abnormalities have been demonstrated, studies to date have predominantly relied on statistical comparisons between patient and control groups. For diffusion MRI techniques to be of clinical value, they should be able to detect white matter microstructural changes in individual patients. In this study, we apply an individualized approach to a technique known as fixel-based analysis, to examine fibre-tract-specific abnormalities in individuals with epilepsy. We explore the potential clinical value of this individualized fixel-based approach in epilepsy patients with differing syndromic diagnoses. Diffusion MRI data from 90 neurologically healthy control participants and 10 patients with epilepsy (temporal lobe epilepsy, progressive myoclonus epilepsy, and Dravet Syndrome, malformations of cortical development) were included in this study. Measures of fibre density and cross-section were extracted for all participants across brain white matter fixels, and mean values were computed within select tracts-of-interest. Scanner harmonized and normalized data were then used to compute Z-scores for individual patients with epilepsy. White matter abnormalities were observed in distinct patterns in individual patients with epilepsy, both at the tract and fixel level. For patients with specific epilepsy syndromes, the detected white matter abnormalities were in line with expected syndrome-specific clinical phenotypes. In patients with lesional epilepsies (e.g. hippocampal sclerosis, periventricular nodular heterotopia, and bottom-of-sulcus dysplasia), white matter abnormalities were spatially concordant with lesion location. This proof-of-principle study demonstrates the clinical potential of translating advanced diffusion MRI methodology to individual-patient-level use in epilepsy. This technique could be useful both in aiding diagnosis of specific epilepsy syndromes, and in localizing structural abnormalities, and is readily amenable to other neurological disorders. We have included code and data for this study so that individualized white matter changes can be explored robustly in larger cohorts in future work.

摘要

扩散磁共振成像(Diffusion MRI)已让人们深入了解到癫痫所特有的广泛结构连接变化。尽管已证实存在特定综合征的白质异常,但迄今为止的研究主要依赖于患者组与对照组之间的统计比较。要使扩散磁共振成像技术具有临床价值,它们应能够检测个体患者的白质微观结构变化。在本研究中,我们将一种个性化方法应用于一种称为基于固定点分析(fixel-based analysis)的技术,以检查癫痫患者纤维束特异性异常。我们探讨这种基于固定点的个性化方法在不同综合征诊断的癫痫患者中的潜在临床价值。本研究纳入了90名神经系统健康对照参与者和10名癫痫患者(颞叶癫痫、进行性肌阵挛癫痫、德雷维特综合征、皮质发育畸形)的扩散磁共振成像数据。为所有参与者提取了全脑白质固定点的纤维密度和横截面积测量值,并在选定的感兴趣区域内计算平均值。然后,使用经过扫描仪校准和归一化的数据为癫痫个体患者计算Z分数。在癫痫个体患者中,在纤维束和固定点水平均观察到不同模式的白质异常。对于特定癫痫综合征的患者,检测到的白质异常与预期的综合征特异性临床表型一致。在患有病灶性癫痫(如海马硬化、脑室周围结节性异位和脑沟底部发育异常)的患者中,白质异常在空间上与病灶位置一致。这项原理验证研究证明了将先进的扩散磁共振成像方法转化为癫痫患者个体水平应用的临床潜力。该技术在辅助特定癫痫综合征的诊断以及定位结构异常方面可能有用,并且很容易适用于其他神经系统疾病。我们已纳入本研究的代码和数据,以便在未来的工作中能够在更大的队列中有力地探索个体白质变化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a31b/10768884/468c52ed30fb/fcad352f5.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a31b/10768884/bb387c2c3031/fcad352f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a31b/10768884/b60e65b296e6/fcad352f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a31b/10768884/c766d97dff6d/fcad352f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a31b/10768884/6e898c1dc97e/fcad352f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a31b/10768884/468c52ed30fb/fcad352f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a31b/10768884/137c23866935/fcad352_ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a31b/10768884/bb387c2c3031/fcad352f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a31b/10768884/b60e65b296e6/fcad352f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a31b/10768884/c766d97dff6d/fcad352f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a31b/10768884/6e898c1dc97e/fcad352f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a31b/10768884/468c52ed30fb/fcad352f5.jpg

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引用本文的文献

[1]
Juvenile Myoclonic Epilepsy Imaging Endophenotypes and Relationship With Cognition and Resting-State EEG.

Hum Brain Mapp. 2025-5

[2]
Mild traumatic brain injury increases cortical iron: evidence from individual susceptibility mapping.

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[3]
Towards precision MRI biomarkers in epilepsy with normative modelling.

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[4]
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Eur J Neurol. 2025-2

[5]
Microangiopathy in temporal lobe epilepsy with diffusion MRI alterations and cognitive decline.

Acta Neuropathol. 2024-10-8

[6]
Individual-level analysis of MRI T2 relaxometry in mild traumatic brain injury: Possible indications of brain inflammation.

Neuroimage Clin. 2024

[7]
Identification of compound heterozygous variants: a case report.

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本文引用的文献

[1]
Detecting microstructural deviations in individuals with deep diffusion MRI tractometry.

Nat Comput Sci. 2021-9

[2]
The normative modeling framework for computational psychiatry.

Nat Protoc. 2022-7

[3]
Decomposing MRI phenotypic heterogeneity in epilepsy: a step towards personalized classification.

Brain. 2022-4-29

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Bilateral Structural Network Abnormalities in Epilepsy Associated With Bottom-of-Sulcus Dysplasia.

Neurology. 2022-1-11

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Neuroimage. 2021-11-1

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Brain. 2021-11-29

[7]
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Brain. 2021-2-12

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Brain Res. 2021-1-15

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Individual deviations from normative models of brain structure in a large cross-sectional schizophrenia cohort.

Mol Psychiatry. 2021-7

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White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study.

Brain. 2020-8-1

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