Magnetic Resonance Imaging Techniques for Investigating the MCT8-Deficient Brain in Murine Disease Models.

Methods Mol Biol

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.

Published: November 2024

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).

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-0716-4252-8_12DOI Listing

Publication Analysis

Top Keywords

magnetic resonance
12
resonance imaging
8
mri techniques
8
imaging techniques
4
techniques investigating
4
investigating mct8-deficient
4
mct8-deficient brain
4
brain murine
4
murine disease
4
disease models
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!