Review
Copyright ©2014 Baishideng Publishing Group Inc. All rights reserved.
World J Radiol. Jun 28, 2014; 6(6): 301-312
Published online Jun 28, 2014. doi: 10.4329/wjr.v6.i6.301
Neuroimaging in Huntington’s disease
Flavia Niccolini, Marios Politis
Flavia Niccolini, Marios Politis, Neurodegeneration Imaging Group, Department of Clinical Neuroscience, King’s College London, London SE5 8AF, United Kingdom
Flavia Niccolini, Marios Politis, Division of Brain Sciences, Department of Medicine, Hammersmith Hospital, Imperial College London, London W12 0NN, United Kingdom
Author contributions: Niccolini F collected the materials for the literature review and wrote the first draft of the manuscript; Politis M reviewed and edited this article.
Correspondence to: Marios Politis, MD, MSc, PhD, Senior Clinical Lecturer, Head of the Neurodegeneration Imaging Group, Department of Clinical Neuroscience, King’s College London, 16 De Crespigny Park, London SE5 8AF, United Kingdom. marios.politis@kcl.ac.uk
Telephone: +44-207-8485682 Fax: +44-207-8480988
Received: December 11, 2013
Revised: February 28, 2014
Accepted: May 8, 2014
Published online: June 28, 2014
Abstract

Huntington’s disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded trinucleotide CAG sequence in huntingtin gene (HTT) on chromosome 4. HD manifests with chorea, cognitive and psychiatric symptoms. Although advances in genetics allow identification of individuals carrying the HD gene, much is still unknown about the mechanisms underlying the development of overt clinical symptoms and the transitional period between premanifestation and manifestation of the disease. HD has no cure and patients rely only in symptomatic treatment. There is an urgent need to identify biomarkers that are able to monitor disease progression and assess the development and efficacy of novel disease modifying drugs. Over the past years, neuroimaging techniques such as magnetic resonance imaging (MRI) and positron emission tomography (PET) have provided important advances in our understanding of HD. MRI provides information about structural and functional organization of the brain, while PET can detect molecular changes in the brain. MRI and PET are able to detect changes in the brains of HD gene carriers years ahead of the manifestation of the disease and have also proved to be powerful in assessing disease progression. However, no single technique has been validated as an optimal biomarker. An integrative multimodal imaging approach, which combines different MRI and PET techniques, could be recommended for monitoring potential neuroprotective and preventive therapies in HD. In this article we review the current neuroimaging literature in HD.

Keywords: Huntington’s disease, Premanifest Huntington’s disease gene carriers, Functional magnetic resonance imaging, Magnetic resonance imaging, Positron emission tomography

Core tip: Huntington’s disease (HD) is a hereditary and fatal neurodegenerative disorder. Although advances in genetics allow identification of individuals carrying the HD gene, much is still unknown about the mechanisms underlying the development of overt clinical symptoms and the transitional period between premanifestation and manifestation of the disease. Neuroimaging techniques such as magnetic resonance imaging and positron emission tomography may be a suitable biomarker for monitoring disease progression in HD and for assessing the efficacy of future disease modifying therapies. In this article, we provide an overview of the findings from neuroimaging techniques in HD.