- Poster presentation
- Open Access
Huntington's disease and dementia: from structural changes to clinical issues
© Michos et al.; licensee BioMed Central Ltd. 2008
- Published: 17 April 2008
- Neuropsychological Performance
- Biomedical Literature
- Systemic Abnormality
- Cell Death Mechanism
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder, which occurs in patients with a mutation in the IT15 gene (huntingtin). Clinically, the disease presents itself with not only motor symptoms but also dementia. The aim of this study is to review and present all recent data, specifically those related to the neuropathology, biochemistry and diagnostic methods of dementia in HD.
Recent advances in molecular and genetic research of HD, derived from articles published in journals indexed in PubMed and other Entrez medical databases are being reviewed in an effort to elucidate mechanisms of cell death in the striatum and disruption of cortical-striatal circuitry. Neurophysiological and imaging diagnostic methods are analytically described, while the utility of other rating scales, like the Unified HD Rating Scale, in the differential diagnosis between HD and other dementias is evaluated according to several clinical trials, described in various biomedical literature citations.
HD causes widespread CNS changes and systemic abnormalities, while cell death mechanisms involve variable processes, such as mitochondrial abnormalities, excitotoxicity, neuroinflammation and abnormal protein degradation . Genetic testing, consideration of the inherited disease risk, clinical assessment, neuroimaging techniques, cognitive and psychological rating scales contribute significantly not only to HD diagnosis, but also prognosis .
HD is a devastating neurological condition of long duration. Many factors likely contribute to neuron death and dysfunction, making the systematic address of its pathology difficult. The first signs and symptoms are often present before impairments reach a point where the neurologic disease manifests itself, but usually are subtle and remain unnoticed [3, 4]. For this reason, clinical rating should focus not only on motor difficulties, but also on the neuropsychological performance of patients as a whole, aiming to detect different types of impairment within this neuropsychiatric disorder. Further research in relation to the understanding of the mechanisms involved in the memory and cognitive impairment of HD and enrichment of the diagnostic tools of all cognitive and emotional declines early in the disease process can have implications for prognostic assessment of persons at risk and eventually assist with early interventions.
- Perutz MF, Windle AH: Cause of neural death in neurodegenerative diseases attributable to expansion of glutamine repeats. Nature. 2001, 412: 143-4. 10.1038/35084141.View ArticlePubMedGoogle Scholar
- Paulsen JS, Ready RE, Hamilton JM, Mega MS, Cummings JL: Neuropsychiatric aspects of Huntington's disease. J Neurol Neurosurg Psychiatry. 2001, 71: 310-314. 10.1136/jnnp.71.3.310.View ArticlePubMedGoogle Scholar
- Nakamura K., Aminoff MJ.: Huntington's disease: clinical characteristics, pathogenesis and therapies. Drugs Today (Barc). 2007, 43 (2): 97-116. 10.1358/dot.2007.43.2.1050788.View ArticleGoogle Scholar
- Huntington Disease Center Baylor College of Medicine, Department of Neurology, Houston, 77030, USA. [http://www.bcm.edu/neurology/struct/huntington/hd.html]
This article is published under license to BioMed Central Ltd.