Journal article
Biomarkers for Huntington's disease: A brief overview
Journal of Rare Diseases Research & Treatment, Vol.1(2), pp.46-50
10/01/2016
DOI: 10.29245/2572-9411/2016/2.1029
Abstract
Huntington’s disease (HD) causes progressive neurological deterioration that leads to death. It is inherited in an autosomal dominant fashion, and individuals with a positive family history can be tested for the presence of the HD mutation prior to the development of the overt features that subjectively define disease onset. An objective biomarker denoting this time point would improve onset accuracy, and ideally be sufficiently sensitive to monitor progression leading up to this juncture. Once manifestations arise, patients are treated symptomatically. There are no disease-modifying treatments available for HD, but many are in development. A major goal is to develop a therapy that will delay the onset of the disease or to potentially even prevent the disease from occurring altogether. However, how does one assess the efficacy of these experimental therapeutics in individuals who carry the HD gene mutation, but are clinically-unaffected? Sensitive and reliable outcome measures are required for preventative clinical trials. Candidate biomarkers include subtle, but quantifiable abnormalities detected on clinical exam, findings on brain imaging, and levels of pathologically-relevant molecules collected in bodily fluids.
Details
- Title: Subtitle
- Biomarkers for Huntington's disease: A brief overview
- Creators
- Annie KilloranKevin Biglan - University of Rochester
- Resource Type
- Journal article
- Publication Details
- Journal of Rare Diseases Research & Treatment, Vol.1(2), pp.46-50
- DOI
- 10.29245/2572-9411/2016/2.1029
- ISSN
- 2572-9411
- eISSN
- 2572-9411
- Language
- English
- Date published
- 10/01/2016
- Academic Unit
- Neurology; Psychiatry
- Record Identifier
- 9984303559402771
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