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Imaging Biomarkers in Huntington’s Disease

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Neurodegenerative Diseases Biomarkers

Part of the book series: Neuromethods ((NM,volume 173))

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Abstract

Huntington’s disease (HD) is a fatal neurodegenerative disorder caused by an abnormal CAG repeat expansion in the HTT gene, that produces a mutant protein thought to directly cause brain cell damage. Premanifest carriers of the CAG expansion represent an ideal population to track the pathophysiological events responsible for the onset of clinical symptoms. Neuroimaging tools, such as positron emission tomography (PET) and magnetic resonance imaging (MRI), are able to investigate in vivo structural, microstructural, and functional brain alterations up to a molecular level and have substantially contributed to understanding the pathophysiology of HD. Neuroimaging techniques have identified potential biomarkers of early detection and progression of disease which can be translated into clinical trials with acceptable sample sizes. This chapter outlines the most important findings from PET and MRI research that has helped understand the pathophysiology of HD in the premanifest and manifest stages, and the translational potential of the neuroimaging biomarkers for the design of future clinical trials with disease-modifying agents.

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Authors and Affiliations

  1. Neurodegeneration Imaging Group, University of Exeter Medical School, London, UK

    Edoardo Rosario De Natale, Heather Wilson & Marios Politis

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  1. Edoardo Rosario De Natale
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  2. Heather Wilson
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  3. Marios Politis
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Correspondence to Marios Politis .

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  1. Department of Anatomy, University of Otago, Dunedin, New Zealand

    Philip V. Peplow

  2. Department of Pharmacology, Department of Medicine, Reno School of Medicine, University of Nevada, Reno, NV, USA

    Bridget Martinez

  3. Department of Neurosurgery, George Washington University, West Chester, PA, USA

    Thomas A. Gennarelli

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De Natale, E.R., Wilson, H., Politis, M. (2022). Imaging Biomarkers in Huntington’s Disease . In: Peplow, P.V., Martinez, B., Gennarelli, T.A. (eds) Neurodegenerative Diseases Biomarkers. Neuromethods, vol 173. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-1712-0_19

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