Chapter title |
Clinical Features of Huntington’s Disease
|
---|---|
Chapter number | 1 |
Book title |
Polyglutamine Disorders
|
Published in |
Advances in experimental medicine and biology, January 2018
|
DOI | 10.1007/978-3-319-71779-1_1 |
Pubmed ID | |
Book ISBNs |
978-3-31-971778-4, 978-3-31-971779-1
|
Authors |
Rhia Ghosh, Sarah J. Tabrizi, Ghosh, Rhia, Tabrizi, Sarah J. |
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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Unknown | 1 | 33% |
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Members of the public | 3 | 100% |
Mendeley readers
Geographical breakdown
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Unknown | 386 | 100% |
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Student > Master | 39 | 10% |
Student > Ph. D. Student | 25 | 6% |
Researcher | 16 | 4% |
Student > Doctoral Student | 16 | 4% |
Other | 42 | 11% |
Unknown | 192 | 50% |
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Neuroscience | 32 | 8% |
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Nursing and Health Professions | 8 | 2% |
Other | 30 | 8% |
Unknown | 205 | 53% |