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Huntington’s Disease

  • Michael OrthEmail author
Chapter

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 pathogenesis 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 worked towards 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. This chapter gives an overview of the clinical features of HD and the treatment options at present.

Keywords

Symptomatic treatment Movement disorder Behavioural phenotype Irritability Apathy Pathophysiology 

Supplementary material

Video 25.1

Woman in her late 40s who first developed motor signs of HD about 10 years before. She has generalised chorea of moderate intensity involving face, oro-bucco-lingual region, the trunk and both arms. There is also a degree of bradykinesia but very little dystonia (AVI 106523 kb)

Video 25.2

This man developed first motor signs of HD in his late teens. Filmed at the age of 33, he cannot protrude his tongue beyond the lips and is clearly bradykinetic including hypomimia. In addition, he has irregular hand tremor and dystonia, as well as truncal dystonia, and has difficulties with pronation and supination of the hands. When walking reduced arm swing and axial bradykinesia are apparent (AVI 262672 kb)

Video 25.3

Typical oculomotor abnormalities in HD. Horizontal ocular pursuit is not smooth; vertical upward pursuit is incomplete. The patient is then asked to voluntarily move her eyes first in the horizontal and then the vertical plane; she struggles to internally generate saccades. With a target (fingers) saccade generation improves but remains abnormal. Externally triggered saccades can also be generated, but saccades are not smooth, are slow and are initiated by head movements that cannot be suppressed. Throughout, upward gaze is limited (AVI 247117 kb)

Video 25.4

Woman in her early 30s with HD since her mid-teens. She is now bedbound. Her main problem is severe dystonia and rigidity. Manipulation can induce rhythmic movements reminiscent of those sometimes seen in patients with motor neurone disorder, and the plantar response is extensor (AVI 83115 kb)

Video 25.5

Choreoacanthocytosis. This man in his mid-40s describes his difficulties with control of his tongue. The tongue tends to push out food rather than assist chewing and swallowing. On the video, in addition to dysarthria, the tongue is stuck out reminiscent of a lizard tongue. There is some chorea of the trunk, the arms and less so the face and hardly any bradykinesia (AVI 187560 kb)

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Copyright information

© Springer-Verlag Wien 2017

Authors and Affiliations

  1. 1.Department of Neurology and European Huntington’s Disease NetworkUlm University HospitalUlmGermany
  2. 2.Department of NeurologyUniversity of UlmUlmGermany

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