‘Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disorder characterized by personality changes, motor impairment and subcortical dementia. It is associated with a selective neuronal cell death occurring primarily in the cortex and striatum.’ (Scherzinger et al, 1997). HD causes emotional problems, uncontrolled movements and the loss of thinking ability. It can lead to disability and death from the illness. There are two forms of this disease: adult-onset and early-onset (juvenile).
Adult onset is by the far most common for HD; symptoms develop at mid 30s/40s, an individual will live an average of 20 years after symptoms and signs begin. Premature signs and symptoms are depression, involuntary movements, trouble learning new information, poor coordination and balance; this can all progress very severely. When HD develops into twitching or jerking this is referred as Chorea. HD can be referred to Huntington Chorea. ‘HD usually has a mid-life onset, but a juvenile form, defined by onset of symptoms before the age of 21 years, is present in about 7% of HD cases.’ (Nance, 2001) It has similar symptoms however the disease progresses more quickly than adult onset form. Gente (1985) results showed findings by others, that the most juvenile-onset patients inherit the gene from their fathers and that the late-onset form is more frequently inherited from affected mothers.
‘The disorder is caused by CAG/polyglutamine (poly Q) repeat expansions in the first exon of a gene encoding a large ~350 kDa protein of unknown function.’ (Scherzinger et al, 1997) Zhang et al state that due to the expansion of polyQ repeats within the protein
causes neurodegenerative disease. Expansion of CAG repeats coding f...
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..., C. and Bates, G, P. (2004). Huntingtin and the molecular pathogenesis of Huntington’s disease. EMBO reports 5. 958-963
Nance, M, A. and Myers, R, H. (2001)
Panov, A, V., Gutekunst, C., Leavitt, B, R., Hayden, M, R., Burke, J, R., Strittmatter, W, J. And Greenamyre, J, T. (2002) Early mitochondrial calcium defects in Huntington’s Disease are a direct effect of Polyglutamines. Nature neuroscience. Volume 5 no 8
Ross, C, A. (2002). Polyglutamine Pathogenesis: Emergence of Unifying Mechanism for Huntington’s Disease and Related Disorders. Neuron, Vol. 35,819-822.
Scherzinger, E., Lurz, R., Turmaine, M., Mangiarini, L., Hollenbach, Birgit., Hasenbank, R., Bates, G, P., Davies, S, W., Lehrach, H and Wanker, E, E. (1997). Huntington-Encoded Polyglutamine Expansions Form Amyloid-like Protein Aggregates In Vitro and In Vivo. Cell, Vol.90, 549-558.
Zhang,
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
Neurodegeneration is used mainly for diseases that are characterised by progressive loss of structure and function of neurons. There are many neurodegenerative diseases including amyotrophic lateral sclerosis that...
Parkinson’s disease can come in two forms; there is a late-onset disease, and early-onset disease. Generally, the disease will begin after the age of 50, being the late-onset. In the early-onset cases, they can begin as early as the age of 20, and can be referred to as a juvenile-onset case...
Huntington’s disease is a genetic neurodegenerative disorder that has a middle-age onset. It is clinically characterized by unwanted movements, behavioral and psychiatric disturbances, and dementia. George Huntington, who first described Huntington’s disease, named it “an insanity which leads to suicide,” (Halpin, 2012). Individuals whom are at-risk or diagnosed with this disease stand in a tough situation in which many decide to commit suicide. There is major controversy on voluntary ways to die with this disease, which include to commit suicide, whether physician-assisted or individually, go under continuous deep sedation, or by euthanasia.
Huntington’s disease (HD) is a progressive autosomal dominant neurodegenerative genetic disorder. HD was originally named Huntington’s chorea after Dr.George Huntington, an American physician who first gave a detailed note on the symptoms and course of the disease in 1872.Recently the name has been changed to Huntington’s disease to emphasize the fact that chorea is not the only important manifestation of the disease but several non-motor symptoms are also associated with this disease.[1]
Parkinson disease begins after the age of 40 years, with peak age of onset between 58 and 62 years. It is slightly more prevalent in males. This disease is one of the most prevalent of the primary CNS disorders and a leading cause of neurologic disability in individuals older than 60 years. The prevalence rate is 107 to 187 per 100,000 persons, with 40,000 new cases in the United States each year.
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
This disorder is caused by an inherited flaw on one gene (Mayo Clinic, 2010). Individuals in of western European around 1 in 20,000 are born with a gene that causes this disorder. Huntington’s disease is not as much common in areas such as Asia and Africa (Your Genes Your Health, 2012). People all over the world are affect by HD. HD is another way of saying Huntington’s disease. On Figure 1.0 you can see a person who has been affected with HD.
Alzheimer’s disease got its name from the German doctor, Dr. Alois Alzheimer. In 1906, he noticed that there were abnormal clumps and bundles of fibers i...
...hromosome and the disease/disorder is passed down in an X linked recessive fashion. Symptoms include muscle weakening and wasting, and pain in the lower body. Mostly only the lower body’s muscles are affected causing the child to have to be confined to a wheelchair. The best way to diagnose Duchenne Muscular Dystrophy is by doing a muscle biopsy to test for abnormal dystrophin levels. There is no treatment for the disease/disorder itself, but only for the symptoms of it. The average age of death in males with Duchenne Muscular Dystrophy is the late thirty’s. Most deaths are caused by breathing complications or heart problems like cardiomyopathy. Duchenne Muscular Dystrophy on average affects one in thirty five hundred male births worldwide. Overall, Duchenne Muscular Dystrophy is very hard to live with and affects many boys around the world.
Dementia can occur in relation to many different illnesses. Some of the most common of which are Huntington’s Disease,
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Huntington’s disease is caused by an abnormal dominant gene. Also called Huntington’s chorea, it is a complex disorder that affects a person capability to feel, think and move. The symptoms of Huntington’s disease consist of mood swings, irritability, depression, and anger. These symptoms are likely to worsen and the disease a lot of times runs in the family. If people have at least one parent with Huntington’s disease, the chances of them inheriting it are 50-50 chance. There is also a 50-50 chance that, that same person could pass the faulty gene on to their future child. This pattern of inheritance is called "autosomal dominant". The disease could also affect a person’s judgment and other mental functions. In some cases the person could
Dementia is an organic brain syndrome which results in global cognitive impairments. Dementia can occur as a result of a variety of neurological diseases. Some of the more well known dementing diseases include Alzheimer's disease (AD), multi-infarct dementia (MID), and Huntington's disease (HD). Throughout this essay the emphasis will be placed on AD (also known as dementia of the Alzheimer's type, and primary degenerative dementia), because statistically it is the most significant dementing disease occurring in over 50% of demented patients (see epidemiology).
Alzheimer’s Disease is named after a German doctor, who specializes in the brain and nervous system, named Alois Alzheimer. This Disease forms in the brain. Alzheimer’s is the most common form of Dementia, a general term for memory loss and other intellectual abilities serious enough to enter. The Tau protein ensures the tubes in your brain stay straight allowing molecules to pass through freely. In Alzheimer’s Disease the protein collapses into strands or tangles, making the tubes disintegrate. There is visible differences of brain tissue in the from misfolded proteins called plaques and tangles. Beta-Amyloid clumps block signals and communication between cells in the brain. Researchers agree that Alzheimer’s Disease is m...