Distinctive Pattern of Metal Deposition in Neurologic Wilson Disease

作者：Dongning Su, Z T Zhang, Zhe Zhang, Sujun Zheng, Tingyan Yao, Yi Dong, Wanlin Zhu, Ning Wei, Yue Suo, Xinyao Liu, Huiqing Zhao, Zhan Wang, Huizi Ma, Wei Li, Junhong Zhou, Joyce S. T. Lam, Tao Wu, Petr Dušek, A. Jon Stoessl, Xiaoping Wang, Jing Jing, Tao Feng · 发表于：Neurology · 年份：2024 · DOI：10.1212/wnl.0000000000209478 · 被引用次数：13 · 研究领域：Trace Elements in Health、Heavy Metal Exposure and Toxicity、Aluminum toxicity and tolerance in plants and animals

BACKGROUND AND OBJECTIVES: Noninvasive and accurate biomarkers of neurologic Wilson disease (NWD), a rare inherited disorder, could reduce diagnostic error or delay. Excessive subcortical metal deposition seen on susceptibility imaging has suggested a characteristic pattern in NWD. With submillimeter spatial resolution and increased contrast, 7T susceptibility-weighted imaging (SWI) may enable better visualization of metal deposition in NWD. In this study, we sought to identify a distinctive metal deposition pattern in NWD using 7T SWI and investigate its diagnostic value and underlying pathophysiologic mechanism. METHODS: variant(s) on a single chromosome, and health controls (HCs) were recruited. NWD and non-NWD (nNWD) were defined according to the presence or absence of neurologic symptoms during investigation. Patients with other diseases with comparable clinical or imaging manifestations, including early-onset Parkinson disease (EOPD), multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and neurodegeneration with brain iron accumulation (NBIA), were additionally recruited and assessed for exploratory comparative analysis. All participants underwent 7T T1, T2, and high-resolution SWI scanning. Quantitative susceptibility mapping and principal component analysis were performed to illustrate metal distribution. RESULTS: < 0.001). Patients with NWD showed increased susceptibility in the lenticular nucleus with high regional weights in the lateral globus pall...