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肌萎缩侧索硬化症中运动和运动外灰质及白质变化的图谱绘制:MRI研究见解的全面综述

Mapping motor and extra-motor gray and white matter changes in ALS: a comprehensive review of MRI insights.

作者信息

Iuzzolino Valentina Virginia, Scaravilli Alessandra, Carignani Guglielmo, Senerchia Gianmaria, Pontillo Giuseppe, Dubbioso Raffaele, Cocozza Sirio

机构信息

Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy.

Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.

出版信息

Neuroradiology. 2025 May 2. doi: 10.1007/s00234-025-03629-7.

DOI:10.1007/s00234-025-03629-7
PMID:40314791
Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease primarily affecting motor neurons, yet with substantial clinical variability. Furthermore, beyond motor symptoms, ALS patients also show non-motor features, reflecting its classification as a multi-system disorder. The identification of reliable biomarkers is a critical challenge for improving diagnosis, tracking disease progression, and predicting patient outcomes. This review explores macro- and microstructural alterations in ALS, focusing on gray matter (GM) and white matter (WM) as observed through Magnetic Resonance Imaging (MRI). This approach synthesizes not only the expected involvement of motor areas but also highlights emerging evidence that these changes extend to extra-motor areas, such as the frontal and temporal lobes, underscoring the complex pathophysiology of ALS. The review emphasizes the potential of MRI as a non-invasive tool to provide new biomarkers by assessing both GM and WM integrity, a key advancement in ALS research. Additionally, it addresses existing discrepancies in findings and stresses the need for standardized imaging protocols. It also highlights the role of multi-modal MRI approaches in deepening our understanding of ALS pathology, emphasizing the importance of combining structural and diffusion MRI techniques to offer more comprehensive insights into ALS progression, ultimately advancing the potential for personalized treatment strategies and improving patient outcomes.

摘要

肌萎缩侧索硬化症(ALS)是一种主要影响运动神经元的进行性神经退行性疾病,但临床症状差异很大。此外,除了运动症状外,ALS患者还表现出非运动特征,这反映了其作为一种多系统疾病的分类。识别可靠的生物标志物是改善诊断、跟踪疾病进展和预测患者预后的关键挑战。本综述探讨了ALS中的宏观和微观结构改变,重点关注通过磁共振成像(MRI)观察到的灰质(GM)和白质(WM)。这种方法不仅综合了运动区域的预期受累情况,还突出了新出现的证据,即这些变化扩展到了运动外区域,如额叶和颞叶,强调了ALS复杂的病理生理学。该综述强调了MRI作为一种非侵入性工具的潜力,通过评估GM和WM的完整性来提供新的生物标志物,这是ALS研究中的一项关键进展。此外,它还解决了现有研究结果中的差异,并强调了标准化成像方案的必要性。它还强调了多模态MRI方法在深化我们对ALS病理学理解方面的作用,强调了结合结构和扩散MRI技术以更全面地了解ALS进展的重要性,最终推进个性化治疗策略的可能性并改善患者预后。

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本文引用的文献

1
Skin innervation across amyotrophic lateral sclerosis clinical stages: new prognostic biomarkers.皮肤神经支配贯穿肌萎缩侧索硬化症的各个临床阶段:新的预后生物标志物。
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Prognostic value of motor and extramotor involvement in ALS.肌萎缩侧索硬化症中运动和运动外受累的预后价值。
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处理流程、输入图像和年龄对自动皮质形态估计的影响。
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Structural and microstructural neuroimaging signature of C9orf72-associated ALS: A multiparametric MRI study.C9orf72 相关肌萎缩侧索硬化症的结构和微观结构神经影像学特征:多参数 MRI 研究。
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Bulbar involvement and cognitive features in amyotrophic lateral sclerosis: a retrospective study on 347 patients.肌萎缩侧索硬化症中的延髓受累及认知特征:一项对347例患者的回顾性研究
Front Aging Neurosci. 2023 Jul 20;15:1217080. doi: 10.3389/fnagi.2023.1217080. eCollection 2023.
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Autonomic dysfunction is associated with disease progression and survival in amyotrophic lateral sclerosis: a prospective longitudinal cohort study.自主神经功能障碍与肌萎缩侧索硬化症的疾病进展和生存相关:一项前瞻性纵向队列研究。
J Neurol. 2023 Oct;270(10):4968-4977. doi: 10.1007/s00415-023-11832-w. Epub 2023 Jun 26.
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Brain imaging signatures in amyotrophic lateral sclerosis: Correlation with peripheral motor degeneration.脑影像学特征在肌萎缩侧索硬化症中的表现:与周围运动神经元退化的相关性。
Ann Clin Transl Neurol. 2023 Aug;10(8):1456-1466. doi: 10.1002/acn3.51835. Epub 2023 Jun 20.
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MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers.磁共振成像在共济失调中的应用:共济失调全球倡议磁共振成像生物标志物工作组的共识建议。
Cerebellum. 2024 Jun;23(3):931-945. doi: 10.1007/s12311-023-01572-y. Epub 2023 Jun 6.
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Presymptomatic grey matter alterations in ALS kindreds: a computational neuroimaging study of asymptomatic C9orf72 and SOD1 mutation carriers.肌萎缩侧索硬化症家系的无症状期灰质改变:无症状 C9orf72 和 SOD1 突变携带者的计算神经影像学研究。
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MRI Clustering Reveals Three ALS Subtypes With Unique Neurodegeneration Patterns.磁共振成像聚类分析揭示了具有独特神经退行性变模式的三种肌萎缩侧索硬化症亚型。
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