Huntington’s disease

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.