Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center.

IF 3.9 2区 医学 Q1 CLINICAL NEUROLOGY
Özge Uygun, Alpay Özcan, Fuat Kaan Aras, Evrim Bozdemir, Sibel Uğur İşeri, Murat Gültekin, Nihan Hande Akçakaya, Orkhan Mammadov, Gülay Kır, Dilek İnce Günal, Neşe Tuncer, Fatma Betül Özdilek, Banu Özen Barut, Ercan Köse, Hülya Apaydın, Asuman Ali, Sultan Çağırıcı, Pınar Topaloğlu, Alp Dinçer, Zuhal Yapıcı
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引用次数: 0

Abstract

Objective: Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility mapping (QSM) allows precise in vivo quantification of iron, providing insight into the pathophysiology of the disease.

Methods: We studied 27 genetically confirmed NBIA patients and 11 age-matched healthy controls using susceptibility-weighted imaging (SWI) on a 3 Tesla MRI scanner. Basal ganglia regions of interest (ROIs) were manually delineated and QSM values were extracted.

Results: Sixteen NBIA patients and 11 controls were analyzed. QSM showed significantly higher iron in the globus pallidus (GP) (p = 0.008), with PKAN patients showing a 2.5-fold increase in GP iron (p = 0.001). MPAN patients showed 2.5 times higher iron in both GP and substantia nigra (SN). A GP iron level > 0.1133 ppm increased the likelihood of PKAN 18-fold. Atypical PKAN cases had 2.5 times higher SN iron levels compared to classic cases.

Interpretation: QSM is a sensitive and noninvasive tool for detecting and quantifying iron accumulation in NBIA. The GP consistently showed the highest susceptibility values across subtypes, emphasizing its significant role in disease pathology. Distinct patterns of iron deposition in different NBIA subtypes may reflect subtype-specific mechanisms with diagnostic and therapeutic relevance. Age-related susceptibility changes were found to be significant, reinforcing the need to account for age when interpreting QSM data. More importantly, QSM may serve as a candidate biomarker for longitudinal disease monitoring in future clinical trials targeting disease-modifying therapies in NBIA.

使用QSM定量测量NBIA患者基底神经节中的铁:来自三级中心的见解。
目的:神经退行性脑铁积累(NBIA)是一种罕见的遗传性疾病,主要以锥体外系症状和基底节区铁沉积为特征。传统的磁共振成像(MRI)检测质的变化,但不能准确地量化铁的积累。定量易感性制图(QSM)允许精确的体内铁定量,为疾病的病理生理学提供见解。方法:在3特斯拉MRI扫描仪上使用敏感性加权成像(SWI)对27例遗传确诊的NBIA患者和11例年龄匹配的健康对照进行了研究。人工圈定基底节区感兴趣区域(roi),提取QSM值。结果:分析了16例NBIA患者和11例对照组。QSM患者苍白球(GP)铁含量明显升高(p = 0.008), PKAN患者苍白球铁含量增加2.5倍(p = 0.001)。MPAN患者GP和黑质(SN)铁含量均高2.5倍。GP铁水平为0.1133 ppm时,患PKAN的可能性增加18倍。非典型PKAN病例SN铁含量是典型病例的2.5倍。解释:QSM是检测和定量NBIA中铁积累的一种灵敏且无创的工具。GP在所有亚型中始终显示出最高的易感性值,强调了其在疾病病理中的重要作用。不同NBIA亚型中不同的铁沉积模式可能反映了亚型特异性机制,具有诊断和治疗相关性。发现年龄相关的易感性变化是显著的,这加强了在解释QSM数据时考虑年龄的必要性。更重要的是,QSM可能在未来针对NBIA疾病改善疗法的临床试验中作为纵向疾病监测的候选生物标志物。
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来源期刊
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology Medicine-Neurology (clinical)
CiteScore
9.10
自引率
1.90%
发文量
218
审稿时长
8 weeks
期刊介绍: Annals of Clinical and Translational Neurology is a peer-reviewed journal for rapid dissemination of high-quality research related to all areas of neurology. The journal publishes original research and scholarly reviews focused on the mechanisms and treatments of diseases of the nervous system; high-impact topics in neurologic education; and other topics of interest to the clinical neuroscience community.
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