Laboratory of Thyroid Hormones and Central Nervous System, Department of Neurological Diseases and Aging, Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain.
Laboratory of Molecular Physiology and Adaptation, CNRS UMR7221, Department of Adaptations of Life, Muséum National d'Histoire Naturelle, Paris, France.
Methods Mol Biol. 2025;2876:175-186. doi: 10.1007/978-1-0716-4252-8_12.
Magnetic resonance imaging (MRI) techniques have emerged as powerful tools for unraveling the pathophysiology of rare diseases, mainly due to their pivotal role in early diagnosis, disease characterization, and treatment monitoring in a non-invasive manner. In this chapter, we will review two essential MRI tools used for studying and evaluating the pathophysiology of Allan-Herndon-Dudley Syndrome or MCT8 deficiency, a rare disease caused by inactivating mutations in the SLC16A2 gene, encoding for the thyroid hormone-specific transmembrane transporter MCT8. These two MRI techniques are time-of-flight magnetic resonance angiography (TOF-MRA) and diffusion tensor imaging (DTI).
磁共振成像（MRI）技术已成为揭示罕见病病理生理学的有力工具，主要归因于其在非侵入性方式下进行早期诊断、疾病特征描述和治疗监测方面的关键作用。在本章中，我们将回顾两种用于研究和评估 Allan-Herndon-Dudley 综合征或 MCT8 缺乏症（一种由 SLC16A2 基因失活突变引起的罕见疾病，该基因编码甲状腺激素特异性跨膜转运体 MCT8）病理生理学的基本 MRI 工具：磁共振血管成像（MRA）和弥散张量成像（DTI）。
