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Huntington’s Disease: Clinical Phenotypes and Therapeutics

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Abstract

Twenty years after the discovery of the causal CAG repeat expansion mutation in the HTT gene, Huntington’s disease remains an incurable devastating disorder. However, using disease models, and studies in human patients, great progress has been made in understanding the pathophysiology of HD. Research has led to the development of the first gene therapy approaches with promising results in HD model systems. This raises hopes that HD, a monogenetic fully penetrant autosomal dominant disorder, may be a model for novel therapeutics in neurodegenerative disorders. In addition, thanks to the efforts of the HD community – families, clinicians, health professionals, and researchers – standards of care are improving patients’ and families’ quality of life. HD networks (HSG, EHDN, RLAH), and their observational studies, have further laid the groundwork for conducting clinical trials of high quality on a global stage. This includes collaboration with clinical trial sponsors in designing and conducting clinical trials, preparing and training investigators, and developing the right assessment tools. The time seems right for the clinical trials of the future that hopefully will change our treatment options to relieve the plight of all those affected by HD.

Disclosure

The author reports no conflict of interest.

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Authors and Affiliations

  1. Department of Neurology and European Huntington’s Disease Network, Ulm University Hospital, Oberer Eselsberg 45/1, Ulm, 89081, Germany

    Michael Orth MD, PhD

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  1. Michael Orth MD, PhD
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Correspondence to Michael Orth MD, PhD .

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  1. Parkinson Disease and Movement Disorders Program and Neurology Department, Hospital de Clínicas, José de San Martín, Buenos Aires, Argentina

    Federico E. Micheli

  2. Parkinson's Disease and Movement Disorders Program, Henry Ford West Bloomfield Hospital, West Bloomfield, Michigan, USA

    Peter A. LeWitt

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© 2014 Springer-Verlag London

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Orth, M. (2014). Huntington’s Disease: Clinical Phenotypes and Therapeutics. In: Micheli, F., LeWitt, P. (eds) Chorea. Springer, London. https://doi.org/10.1007/978-1-4471-6455-5_5

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  • DOI: https://doi.org/10.1007/978-1-4471-6455-5_5

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