ALS 的边缘网络和 Papez 回路参与:C9orf72 和 C9orf72 阴性患者中 GGGGCC 六核苷酸携带者的影像和临床特征

Biology Pub Date : 2024-07-06 DOI:10.3390/biology13070504
Foteini Christidi, Jana Kleinerova, E. Tan, S. Delaney, Asya Tacheva, Jennifer C. Hengeveld, Mark A. Doherty, R. Mclaughlin, Orla Hardiman, W. Siah, K. Chang, J. Lope, P. Bede
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引用次数: 0

摘要

背景:虽然越来越多的人认识到肌萎缩性脊髓侧索硬化症(ALS)会累及额颞叶,但边缘网络变性的特征仍不十分明确,尽管有越来越多的证据表明存在失忆障碍、情感处理受损和社会认知障碍。研究方法对 204 名 ALS 患者和 111 名健康对照者进行了前瞻性神经影像学研究。根据 C9orf72 的六核苷酸扩增状态对患者进行分层。研究人员采用基于深度学习的分割方法,对凹凸核、下丘脑、穹窿、乳头体、基底前脑和隔核进行分割。此外,还对 Papez 回路的皮层、皮层下和白质部分进行了系统评估。研究结果与对照组相比,六核苷酸重复扩增携带者表现为双侧杏仁核、下丘脑和伏隔核萎缩,C9orf72阴性患者表现为双侧基底前脑体积缩小。无论基因型如何,两组患者均表现出左侧喙前扣带回萎缩、左侧内侧皮层变薄以及蝶鞍和穹窿的改变。在C9orf72阳性的ALS患者中,穹窿、扣带回、扣带回后部、伏隔核、杏仁核和下丘脑的退化更为明显。结论我们的研究结果表明,颞中叶和矢状旁皮层下变性并非C9orf72携带者所独有。我们的放射学发现与神经心理学观察结果一致,并强调了对 ALS 进行全面神经心理学检测的重要性,无论其潜在基因型如何。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Limbic Network and Papez Circuit Involvement in ALS: Imaging and Clinical Profiles in GGGGCC Hexanucleotide Carriers in C9orf72 and C9orf72-Negative Patients
Background: While frontotemporal involvement is increasingly recognized in Amyotrophic lateral sclerosis (ALS), the degeneration of limbic networks remains poorly characterized, despite growing evidence of amnestic deficits, impaired emotional processing and deficits in social cognition. Methods: A prospective neuroimaging study was conducted with 204 individuals with ALS and 111 healthy controls. Patients were stratified for hexanucleotide expansion status in C9orf72. A deep-learning-based segmentation approach was implemented to segment the nucleus accumbens, hypothalamus, fornix, mammillary body, basal forebrain and septal nuclei. The cortical, subcortical and white matter components of the Papez circuit were also systematically evaluated. Results: Hexanucleotide repeat expansion carriers exhibited bilateral amygdala, hypothalamus and nucleus accumbens atrophy, and C9orf72 negative patients showed bilateral basal forebrain volume reductions compared to controls. Both patient groups showed left rostral anterior cingulate atrophy, left entorhinal cortex thinning and cingulum and fornix alterations, irrespective of the genotype. Fornix, cingulum, posterior cingulate, nucleus accumbens, amygdala and hypothalamus degeneration was more marked in C9orf72-positive ALS patients. Conclusions: Our results highlighted that mesial temporal and parasagittal subcortical degeneration is not unique to C9orf72 carriers. Our radiological findings were consistent with neuropsychological observations and highlighted the importance of comprehensive neuropsychological testing in ALS, irrespective of the underlying genotype.
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