Difference between revisions of "2011 Group Project 4"
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Revision as of 19:50, 31 August 2011
|Note - This page is an undergraduate science embryology student group project 2011.|
Huntington’s disease (HD) is an autosomal dominant disease that is established by the mutated huntingtin protein gene. HD is characterized by neuronal degeneration and dysfunction of the cerebral cortex and striatum which may be the cause of its clinical manifestations in jerky, involuntary movements such as chorea  .
Pathogenesis and Genetics
Huntington’s Disease is most commonly diagnosed at the onset on symptoms, typically in the middle ages. The diagnosis is relatively simple in patients with typical symptoms. Diagnosis is important to ensure that this disease is not confused with similar diseases, which mimic similar characteristics . These include tardive dyskinesia, chorea gravidarum, hyperthyroid chorea and Neuroacanthocytosis . In children, subacute sclerosing panencephalitis can easily be mistaken for Huntington’s disease as they both present with very similar clinical presentations . Huntington’s disease can also be diagnosed when a patient is asymptomatic, by genetic testing. This also enables detection of the disease in embryos.
Anton (1896) and Lannois (1897) were the first to observe neuropathological changes associated with Huntington’s disease. They independently noted the degeneration of the striatum in patients with Huntington’s disease . Numerous other neuropathological abnormalities have now been identified in different parts of the brain including the subtalamic regions, pons and medulla oblongata, the spinal cord, amygdala, cerebellum, superior olive as well as the claustrum . The neuropathological hallmark of Huntington’s disease is now know to be the gradual loss of spiny GABAergic projection neurons of the neostriatum. This is accompanied with the atrophy of the caudate of nucleus, putamen and external segment of the globus pallidus .
There is no cure for Huntington's disease. Similar to AIDS, only the symptoms can be treated to slow down the progression of the disease.
- Movement disorders
- Psychiatric disorders
- Speech Therapy
- Physical Therapy
- Occupational Therapy
Quite recently, there are a couple of breakthroughs for the treatment of Huntington's.
- Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. 
- Using adult neurotrophic factor-secreting stem cells. 
The main area for future research into Huntington’s disease is aimed at finding therapeutic ways to treat the disease in the asymptomatic phase. Research is also being done into finding treatment options to cure symptoms at different stages of the disease. Animal models (mouse) have been used since the 1970s  to demonstrate the degenerative progression of the disease. They also provide biological, histopathological and cell-to-cell evidence which allow for the basis of finding treatment options as well as allowing us to see the effects of gene modification.
2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip