‘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,
Huntington’s disease is of great concern because it is a genetic disease that affects many people worldwide. Huntington’s is described by Wider and Luthi-Carter (2006) as the most prevalent inherited neurodegenerative disorder in humans, affecting between two to eight per 100,000 inhabitants of Western countries. Huntington’s also has a slow onset with an average age of onset around 40 (Wider & Luthi-Carter, 2006). Wider and Luthi-Carter (2006) note the cause of this disease to be a mutation in the huntingtin gene, which can be characterized by distinct symptoms. Chorea, from the Greek “to dance”, is the main distinguishing feature of this mutation and is described by Wider and Luthi-Carter (2006) as rapid involuntary movements that manifest as eyelid elevation, head bobbing, facial grimacing, and jerking of the limbs. Chorea is also noticeable in the way one walks, making an individual move in a zigzag pattern and appear to be thrown off balance by involuntary movements (Wider & Luthi-Carter, 2006). The disease duration is between ten and thirty years and is often first noticed in the early stages by symptoms including attention disorders, personality changes, and alterations in motor control (Wider & Luthi-Carter, 2006).
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.
diet fed to either group of patients. All the Huntington's disease and 11 o f the control
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]
Huntington's disease is a progressive brain disorder that is caused by a single defective gene on chromosome 4 — which is one of the 23 human chromosomes that carry a person’s entire genetic code (alz.org, 2013). This defect is dominant, w...
It is estimated that between .1 and 10 % of people who suffer from Huntington's
The cause of this is caused by a defect on chromosome 4. This gene is in control for building proteins called huntingtin. Chromosome is a construction of nucleic acids and protein. It brings genetic information in the form of genes. The defect on the gene defines that specific proteins are required to make brain substances that can’t be prepared in the brain normally. This is also the result to the harm and loss of brain cells and some portions of the brain. Also there a collection of chemical called dopamine. This also causes movement problems. This damage this leads to the symptoms to the disorder known as Huntington’s disease. (Patient.Co.Uk, 2011).
Dementia can occur in relation to many different illnesses. Some of the most common of which are Huntington’s Disease,
Huntington's disease is a genetic disease. The signs and symptoms generally develop in midlife. People with Huntington's disease at younger age usually is the more serious case, and their symptoms may progress more rapidly. Huntington is harder to find in children. There are medications that available to help finding out the signs and symptoms of Huntington's disease, but treatments cannot prevent the declining in people’s physical and mental in this situation.
Huntington’s disease is a progressive neurological disorder that is caused by an autosomal dominant mutation in the HTT gene. There will be no change in the allele frequencies because this treatment only has an effect on the phenotype, not the genotype; it does not
Sheth, Kevin. “Huntington’s disease.” PubMed Health. Last reviewed 30 April 2011. Web. March 20, 2011.
I looked up Huntington’s Disease to find out more about the disorder. There is no real treatment for the disorder, so I do not see any benefit of knowing that you are going to develop the disease. I feel the distress of knowing that a gene is present and the disease is going to come in time would be worse than the symptoms starting to manifest themselves. The early symptoms can develop any time, but in most cases, they develop in between the age range of 30 – 50 years of age. The initial signs and symptoms are very subtle causing problems with coordination, involuntary movement, and memory. The person affected may develop depression or irritable moods. In the early stages, there are some medications that can help with those symptoms.
Huntington’s is a disease that is caused by a genetic defect on chromosome 4. This defect causes the CAG repeat to occur more than it’s supposed to. This section of DNA is repeated 10 to 28 times in a normal person but a person with Huntington’s it’s repeated anywhere from 36 to 120 times, depending on how severely their affected. This is an inherited disease that causes a progressive degeneration of the nerve cells in the brain which affects many aspects of a person such as their behavior, movements, cognitive thinking, and causes several other problems.
Huntington’s disease is a neurodegenerative disorder. This disorder is very similar to other neurodegenerative disorders. HD is caused by a protein that has not been folded correctly. The gene that causes the disease is called huntingtin (HTT), it was founded seventeen years ago. Some information has been discovered since the finding of the gene (Schapira, 2014). Understanding the genetics of
Huntington’s disease (HD) is an inherited disorder that causes degeneration of neurons in regions of the brain that control motor functions and cognition (Ghosh, 2015). The disease was formally described for the first time in 1872 by George Huntington. In his essay, “On Chorea”, Huntington incorporated the medical records of the patients treated previously by his father and grandfather. He noted the hereditary transmission of chorea, its gradual onset and tendency of affected patients to insanity and suicide. Since the original discovery the name has changed from Huntington’s chorea to Huntington’s disease to acknowledge the multiple non-motor symptoms faced by patients (Rüb, 2015). The clinical features that Huntington observed remain true