Chapter title |
The Complexity of Clinical Huntington’s Disease: Developments in Molecular Genetics, Neuropathology and Neuroimaging Biomarkers
|
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Chapter number | 5 |
Book title |
Neurodegenerative Diseases
|
Published in |
Advances in neurobiology, July 2017
|
DOI | 10.1007/978-3-319-57193-5_5 |
Pubmed ID | |
Book ISBNs |
978-3-31-957191-1, 978-3-31-957193-5
|
Authors |
Lynette J. Tippett, Henry J. Waldvogel, Russell G. Snell, Jean-Paul Vonsattel, Anne B. Young, Richard L. M. Faull, Tippett, Lynette J., Waldvogel, Henry J., Snell, Russell G., Vonsattel, Jean-Paul, Young, Anne B., Faull, Richard L. M. |
Abstract |
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterised by extensive neuronal loss in the striatum and cerebral cortex, and a triad of clinical symptoms affecting motor, cognitive/behavioural and mood functioning. The mutation causing HD is an expansion of a CAG tract in exon 1 of the HTT gene. This chapter provides a multifaceted overview of the clinical complexity of HD. We explore recent directions in molecular genetics including the identification of loci that are genetic modifiers of HD that could potentially reveal therapeutic targets beyond the HTT gene transcript and protein. The variability of clinical symptomatology in HD is considered alongside recent findings of variability in cellular and neurochemical changes in the striatum and cerebral cortex in human brain. We review evidence from structural neuroimaging methods of progressive changes of striatum, cerebral cortex and white matter in pre-symptomatic and symptomatic HD, with a particular focus on the potential identification of neuroimaging biomarkers that could be used to test promising disease-specific and modifying treatments. Finally we provide an overview of completed clinical trials in HD and future therapeutic developments. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 39 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 5 | 13% |
Student > Master | 4 | 10% |
Student > Postgraduate | 3 | 8% |
Student > Bachelor | 3 | 8% |
Student > Doctoral Student | 2 | 5% |
Other | 7 | 18% |
Unknown | 15 | 38% |
Readers by discipline | Count | As % |
---|---|---|
Neuroscience | 8 | 21% |
Biochemistry, Genetics and Molecular Biology | 5 | 13% |
Medicine and Dentistry | 3 | 8% |
Psychology | 2 | 5% |
Nursing and Health Professions | 1 | 3% |
Other | 2 | 5% |
Unknown | 18 | 46% |