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Clinical Features of Huntington’s Disease

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Book cover Polyglutamine Disorders

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1049))

Abstract

Huntington’s disease (HD) is the most common monogenic neurodegenerative disease and the commonest genetic dementia in the developed world. With autosomal dominant inheritance, typically mid-life onset, and unrelenting progressive motor, cognitive and psychiatric symptoms over 15–20 years, its impact on patients and their families is devastating. The causative genetic mutation is an expanded CAG trinucleotide repeat in the gene encoding the Huntingtin protein, which leads to a prolonged polyglutamine stretch at the N-terminus of the protein. Since the discovery of the gene over 20 years ago much progress has been made in HD research, and although there are currently no disease-modifying treatments available, there are a number of exciting potential therapeutic developments in the pipeline. In this chapter we discuss the epidemiology, genetics and pathogenesis of HD as well as the clinical presentation and management of HD, which is currently focused on symptomatic treatment. The principles of genetic testing for HD are also explained. Recent developments in therapeutics research, including gene silencing and targeted small molecule approaches are also discussed, as well as the search for HD biomarkers that will assist the validation of these potentially new treatments.

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Acknowledgements

Dr. Rhia Ghosh is funded entirely by a Medical Research Council UK Clinical Research Fellowship.

Professor Sarah J Tabrizi receives grant funding for her research from the EU FP7 health call, Medical Research Council UK, CHDI Foundation, Huntington Disease Association of the UK, Dementiaand Neurodegenerative Disease Network UK, European Huntington’s Disease Network, the Wellcome Trust, the UCL/UCLH Biomedical Research Centre and BBSRC.

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  1. UCL Huntington’s Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, WC1N 3BG, UK

    Rhia Ghosh & Sarah J. Tabrizi

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  1. Rhia Ghosh
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  2. Sarah J. Tabrizi
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Correspondence to Sarah J. Tabrizi .

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  1. Department of Biomedical Sciences and Medicine; Centre for Biomedical Research and Algarve Biomedical Center, University of Algarve, Faro, Portugal

    Clévio Nóbrega

  2. Center for Neuroscience and Cell Biology and Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal

    Luís Pereira de Almeida

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Ghosh, R., Tabrizi, S.J. (2018). Clinical Features of Huntington’s Disease. In: Nóbrega, C., Pereira de Almeida, L. (eds) Polyglutamine Disorders. Advances in Experimental Medicine and Biology, vol 1049. Springer, Cham. https://doi.org/10.1007/978-3-319-71779-1_1

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