Currently, there is no cure for Huntington’s disease (HD) and only limited numbers of treatments are effective in controlling HD symptoms. HD a progressive neurodegenerative disorder characterized by motor disturbances, psychiatric dysfunctions, and cognitive disabilities. HD is inherited in an autosomal dominant manner, means that the inheritance of a single copy of the mutant huntingtin allele containing an expanded CAG repeat region in exon 1 (>36 CAG repeat) causes the disease. Translation of the mutant allele mRNA yields the mutant huntingtin protein (mHtt) containing an expanded polyglutamine region near the amino terminus, which favor protein cleavage and accumulation of the N-terminus in the nucleus. N-terminal huntingtin affects transcription of subsets of genes. Early in HD progression, levels of the cannabinoid receptor type 1 (CB1) and dopamine receptor type 2 (D2) are reduced in the medium spiny neurons of the striatum. CB1 receptor is able to activate several signaling pathways through the activation of different G proteins as well as arrestin-2. Furthermore, compelling anatomical and physiological evidence suggests a strong interaction between the CB1 and D2 receptors. Given this interaction between CB1 and D2 receptors, drugs that block or activate either receptor will influence convergent signaling pathways. Typical and atypical antipsychotics, including haloperidol and olanzapine, respectively, are commonly prescribed to HD patients to control chorea and
Huntington’s disease is an autosomal, dominant inherited disorder caused by a polyglutamine expansion at the amino-terminal on the huntingtin protein. It causes a progressive degeneration of spiny nerve cells in the striatum and cortex of the brain, impairing a person’s functional and cognitive abilities. Polyglutamine repeats of 36 are found to be non-threating but sequences containing an additional two or three repeats are associated with Huntington’s disease.
The period from 1776 to 1815 witnessed the successful effort of the new United States in establishing a country. During that period the new country won its independence, constituted itself as a nation, developed a political system, expanded geographically, and defended itself from external and internal threats. There were four major crisis that the United States faced in this period are the Battle Long Island, Battle of Valley Forge, War of 1812, and the Battle of New Orleans, which I thought it was the major crisis that the United States faced.
The disease that I have chosen is Huntington’s disease. Australian Huntingtin’s Disease Association (NSW) says that five in one hundred thousand people have Huntington’s disease. Huntington’s disease is rare in people who descended from Europe, but according to the U.S national library of medicine it is less common in people of “Japanese, Chinese and African decent” to name a few (2017). The symptoms may include: subtle changes in personality and physical skill. The most recognisable symptom is random sporadic movements throughout the body. This is called chorea; this can reduce coordination and cause other minor motor abnormities. This would lead to difficulty chewing, swallowing, speaking, cause unusual facial expressions
The first of the Five Arnold Requirements which states: The encroacher did not simply take a calculated risk, act in bad faith, or negligently, willfully or indifferently locate the encroaching structure. This requirement was met due to the fact that the Huntington’s and the Proctor’s relied on a survey that was done of the property. The survey was completed by Dennis Peoples in 1995. Mr. Peoples placed a pin along the northern border of the Proctor’s property. This pin was not intended to mark the actual boundary of the properties. This pin was referred to as the 16th pin. Based on this information, it obvious that the Huntington’s were not negligible in this instance. They had relied on the information from the surveyor. The Huntington’s
Huntington’s disease (HD) is a fatal genetic neurodegenerative genetic disorder affecting the brain. It results in uncontrolled jerking movements (chorea), cognitive and behavioural changes. HD leads to incapacitation of the patient and ends fatal. However, death rarely results from HD itself. It is typically due to complications of HD. HD was originally called Huntington’s chorea, because of the involuntary movements that looked like jerky dancing. Chorea is the Greek word for dancing. The majority of HD patients start developing the disease around 30 to 40 or even later. If HD onsets before the age of 20, the condition is called juvenile Huntington’s disease. This form of HD has often expresses the symptoms different and progresses faster
Huntington’s disease (HD) is a rare and fatal disease known as a polyglutamine neurodegenerative disorder effecting only 4-10 per 100,000 people of European decent (Driver-Dunckly et. Al 2007). This means there is a problem with the trinucleotide that codes for glutamine, cytosine-adenine-guanine (CAG). In the case of HD there is an extreme overproduction of the CAG repeats in the protein huntingtin. Accumulation of this mutated form of the protein in neurons causes cell atrophy which in turn causes the brain to malfunction. The disease was first described by Dr. George Huntington in 1872, however it wasn’t until 1993 that the cause of the disease was actually discovered (Bertram et. Al 2005).HD is characterized by symptoms effecting the afflicted
Huntington’s disease occurs from acquiring a defective gene IT15 found on chromosome four. A typical copy of this gene yields the protein huntingtin. However, when the defective gene is bigger than usual, it yields huntingtin in a larger quantity. The etiology becomes fickle when reasons concerning why this defective protein damages the portion of the brain that administers movement. Scientists reveal that the reasoning is due to a miniscule protein called Rhes, which is found in the brain portion that governs movement. Overall, the mutant protein huntingtin causes Huntington’s disease and the defective protein Rhes contributes, however more research and testing is needed to explicate how the Rhes protein augments the pathology. The pathology entails progressive degeneration of the spiny neurons within the basal ganglia, chiefly the putamen and caudate. As the disease advances, neuronal loss ensues in the
From the effectiveness of the application of antisense oligonucleotides in other disease of a similar pathology, it stands to reason that ASOs should be a viable therapeutic for treating Huntington’s disease.
It is important to know that Huntington’s disease is not curable. There are treatments and medications that are being used to help decrease the symptoms of this disease and slow down the advancement of it. Physical therapy and counseling is being used frequently as a treatment for Huntington’s. Physically, the victim with Huntington’s disease or slowly progressing into having Huntington’s disease, need some form of physical therapy to help with having unstable and involuntary motor control. Physical therapy is consisted of physiotherapy, occupational therapy, and speech therapy. Physiotherapy focuses on the body’s main functional movements such as walking or standing. Occupational therapy focuses on finding new ways to
No treatments can alter the course of Huntington's disease. But medications can lessen some symptoms of movement and psychiatric disorders. And multiple interventions can help a person adapt to changes in his or her abilities for a certain amount of time.
George Huntington was not the first to describe the disease, but he was the first to present an account in concise clear detail. After Huntington’s research, the disease was known as Huntington chorea. Chorea meaning sporadic, involuntary movements. As time has progressed, research has as well, and this disease has come to be known as Huntington’s disease (HD). Huntington’s is a neurodegenerative disorder that is autosomal dominant, meaning the defective gene needs only be inherited from one parent. The cause of HD is a defect that occurs on chromosome 4 and as mentioned above is hereditary. This disease affects the cognitive, motor and emotional functions of the brain. Oliver Quarrell put in simpler terms the actions of the brain cells in a book he wrote stating the known facts of Huntington’s disease. Quarrell (1999) described a person with this disease to have, “some nerve cells, in specific areas of the brain, die back early” (p.2). The action of cells dying prematurely leads to two forms of Huntington’s; Adult
Huntington’s disease is a rare genetic disorder that slowly kills nerve cells. The cause is the HTT gene in the fourth chromosome, being repeated more times than the healthy gene has. Due to the death of nerve cells, you can get dementia, loss of mental abilities and chorea witch is uncontrollable movements in the arms or other parts of the body. Other symptoms include violent outbursts, seizures, and dystonia or muscle problems like tremors. Also in adolescents having no perseverance and giving up right away.
Huntington’s disease is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain and eventually causes death. It is caused by a mutation in a gene that is responsible for producing the huntingtin protein. Over a period of time, physical and mental abilities gradually deteriorate, and there is currently
Learning about Huntington's disease was one my favorite things of my observership. because I was able to help the Dr. with its research about the disease, and observe the physical exam but most important see patients with the disease. I am from Maracaibo, Venezuela, and the city is know for the largest population with Huntington's disease, they call it "el mal del Sambito" because of the choreography like movements. It was very nice, being to relate to the disease somehow.
Huntington’s disease, also known as Huntington’s chorea, is a rare pathology among the nervous system. With fewer than 200,000 US cases per year is an inherited condition in which nerve cells in the brain break down over a period of time. This disease will usually start to effect people when they are in their 30s or 40s. Huntington’s usually results in psychiatric symptoms, progressive movement and thinking. No cure to this disease exists but physical therapy, drugs, and talk therapy can help manage symptoms.