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Huntington Disease: Genetics, Prevention, and Therapy Approaches

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GeNeDis 2016

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 987))

Abstract

Huntington’s chorea or Huntington disease (HD) is a late-onset autosomal dominant neurodegenerative disorder caused by a trinucleotide repeat expansion. The multidisciplinary study of HD has been the focus of an international collaborating effort of basic and applied research for several decades. HD was the first human genetic disease mapped using linkage analysis of DNA polymorphisms and became a paradigm for scores of genes mapped in the same manner. Presymptomatic and prenatal testing have been available for HD families in the last 30 years, following genetic counseling and careful bioethical guidelines. Nevertheless, with the cure for the disease still elusive the uptake of predictive testing by at risk individuals is low. Current treatment of HD is mostly symptomatic, but ongoing observational studies, clinical trials and development of new gene silencing technologies have provided hopeful results.

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Acknowledgements

The author is pleased to express his gratitude to Professor Emeritus of Internal Medicine Dimitris Loukopoulos for instructive mentoring during the author’s PhD thesis, and late Professor of Neurology Constantinos Papageorgiou for the opportunity he gave to the author to establish the Laboratory of Molecular Neurogenetics at Eginition Hospital immediately after the completion of his PhD thesis research. Special thanks are offered to the HD patients and their families, as well as to members of the International HD Collaborative Research Group, and especially Professor Emeritus Peter Harper and Professor Gerry Evers-Kiebooms for fruitful collaboration.

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Authors and Affiliations

  1. Department of Oral and Maxillofacial Surgery, School of Medicine, University of Athens, Attikon Hospital, Athens, Greece

    Christos Yapijakis

  2. “Cephalogenetics” Genetic Center, Athens, Greece

    Christos Yapijakis

  3. Department of Neurology, School of Medicine, University of Athens, Eginition Hospital, Athens, Greece

    Christos Yapijakis

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  1. Christos Yapijakis
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Correspondence to Christos Yapijakis .

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Editors and Affiliations

  1. Department of Informatics, Bioinformatics and Human Electrophysiology Laboratory, Ionian University, Corfu, Greece

    Panayiotis Vlamos

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Yapijakis, C. (2017). Huntington Disease: Genetics, Prevention, and Therapy Approaches. In: Vlamos, P. (eds) GeNeDis 2016. Advances in Experimental Medicine and Biology, vol 987. Springer, Cham. https://doi.org/10.1007/978-3-319-57379-3_6

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