Farag Mena, Knights Harry, Scahill Rachael I, McColgan Peter, Estevez-Fraga Carlos
Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Roche Products Limited, Welwyn Garden City, United Kingdom.
Mov Disord Clin Pract. 2025 May;12(5):561-576. doi: 10.1002/mdc3.70010. Epub 2025 Feb 20.
Huntington's disease (HD) is a hereditary neurodegenerative disorder characterized by cognitive, neuropsychiatric and motor symptoms caused by a CAG trinucleotide repeat expansion in the huntingtin gene. Imaging techniques are crucial for understanding HD pathophysiology and monitoring disease progression.
This review is targeted at general neurologists and movement disorders specialists with an interest in HD and aims to bring complex imaging, including new experimental techniques, closer to the practicing clinician.
We provide a summary of findings from conventional structural, diffusion and functional imaging in HD studies, together with an update on emerging novel techniques, including multiparametric mapping, multi-shell diffusion techniques, ultra-high field 7-Tesla MRI, positron emission tomography and magnetoencephalography.
Conventional imaging techniques have deepened our understanding of neuropathological progression in HD, from striatal atrophy to widespread cortical and white matter changes. The integration of novel imaging techniques reviewed has further improved our ability to interrogate, quantify and visualize disease-specific alterations with high precision.
Novel imaging techniques have promising roles to further our understanding of HD pathology and as imaging markers for clinical trials, disease staging and therapeutic monitoring. Additionally, the synergistic potential of combining imaging modalities with molecular and genetic data, along with wet biomarkers and clinical data, will help provide a complete and comprehensive view of HD pathology and progression.
亨廷顿病（HD）是一种遗传性神经退行性疾病，其特征为认知、神经精神和运动症状，由亨廷顿基因中CAG三核苷酸重复序列扩增引起。成像技术对于理解HD病理生理学和监测疾病进展至关重要。
本综述针对对HD感兴趣的普通神经科医生和运动障碍专家，旨在使复杂的成像技术，包括新的实验技术，更贴近临床医生的实际应用。
我们总结了HD研究中传统结构、扩散和功能成像的研究结果，并介绍了新兴的新技术，包括多参数映射、多壳层扩散技术、超高场7特斯拉磁共振成像、正电子发射断层扫描和脑磁图。
传统成像技术加深了我们对HD神经病理进展的理解，从纹状体萎缩到广泛的皮质和白质变化。本文综述的新型成像技术的整合进一步提高了我们高精度询问、量化和可视化疾病特异性改变的能力。
新型成像技术在进一步理解HD病理学以及作为临床试验、疾病分期和治疗监测的成像标志物方面具有广阔前景。此外，将成像模态与分子和遗传数据、以及生物标志物和临床数据相结合的协同潜力，将有助于全面、综合地了解HD病理学和进展情况。
