Research Paper On Huntington's Disease

Huntington's Disease (HD) is an autosomal dominant, progressive, neurodegenerative disorder (Walker, 2007 and Harmon, 2007). The gene that causes the disease is located on the fourth chromosome and causes an abnormal number of repeats in the patient's genetic code (Harmon, 2007). Huntington's Disease can have devastating effects on patients' quality of life. The first symptoms of HD generally start between the ages of 30 and 45 and patients are typically asymptomatic prior to this time (Terrenoire, 1992 and Walker, 2007). However, the disease progresses with subtle changes in motor control, personality, and cognition. Patients eventually develop distinct

3. “Huntington's Disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 13 June 2017, www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117.

Huntington’s disease is caused by a mutation in the gene for a protein called Huntingtin. The genetic mutation results in the building blocks of DNA (cytosine, adenine, and guanine) to be replicated many more times than in an average individual. As a result, Huntington’s disease breaks down brain cells, or neurons, specifically located in the primary motor cortex regions of the brain, but can effect other brain areas

Huntington’s Disease is a late-onset fatal genetic disorder that results in the gradual deterioration of nerve cells in the brain. Typical symptoms include involuntary movements, loss of muscle control, depression,

Huntington’s Disease is a genetic disorder characterized by the arrival of symptoms late in life, usually in the 30s or 40s. It is an autosomal dominant disorder, which includes nerve cells breaking down in the brain. There are both movement and cognitive symptoms related to this disease. Some movement symptoms are unintentional jolting, delayed eye movements, and a compromised manner of walking. Some cognitive symptoms are trouble organizing responsibilities, a deficiency of cognizance of one’s own actions and capabilities, and a difficulty in understanding fresh material. There are also psychiatric disorders associated with Huntington’s disease: depression, obsessive compulsion disorder, and mania. Huntington’s disease results from a mutation

Huntington’s disease is a hereditary brain disorder that is progressive in neurodegeneration; which means, there is a loss of function and structures of one’s neurons. In the long run it results in the loss of both mental and physical control. The disease affects muscle coordination, cognition and behavior. It used to be known as Huntington’s chorea because it is the most common genetic disease that is the cause of abnormal twitching. Huntington 's has an intense effect on patients, as individuals gradually lose the ability to reason, speak and swallow. Also, motor symptoms, which affects in problems with walking, (Mayo Clinic Staff, 2011).

Huntington’s disease is a neurological (nervous system) condition caused by the inheritance of an altered gene. A neurological disorder is a disease that can affect the central and peripheral nervous systems. Huntington’s disease is an incurable genetic brain disorder. The disease is an autosomal dominant disease, meaning a child only needs to inherit the gene from one parent to develop Huntington’s. Nerve cells become damaged when someone holds the HTT gene that produces a protein called huntingtin, as too much of this protein damages cells, and causes various parts of the brain to gradually deteriorate. Huntington’s disease causes changes in the central area of the brain, the basal ganglia, which can affect movement, emotions, and mental

Huntington’s disease is a neurodegenerative disorder that slowly breaks down somatic tissues. This degeneration causes a mass amount of chorea, change in mental functioning, change in behavior, decreased memory, along with other serious psychological problems. Since the mechanism of the disease is still not fully understood, there is no cure for the disease, but there are several therapies and medications available. All of the medication and treatment available only help to manage symptoms; they are just stalling the progression of the symptoms but not the overall disease.

According to Genetic Science Learning Center, it has been stated that approximately 1 in every 30,000 Americans have been affected with Huntington Disease and is considered one of the most common brain disorders due to heredity (Genetic Science Learning Center). This disease was discovered by a 22-year-old American doctor, named George Huntington, in 1872. Huntington wrote a paper called On Chorea which was published in the Medical and Surgical Reporter, and the disorder later become known as Huntington Chorea, but is now commonly known as Huntington Disease (What Is The History of Huntington’s Disease?). Huntington disease-like Syndrome (HDL) is a condition that resembles a lot like Huntington disease (HD) (Huntington disease-like Syndrome).

Huntington disease is defined by the autosomal pattern that is in inheritance with high penetrance of high proportion of the population that has the gene that advances the disease. It’s typical that Huntington disease is caused by the loss of neurons nerve cells in the brain (Van Walsem M.R, 2016).

Huntington’s disease is a degenerative neurological disorder affecting movement, cognition, and emotional state (Schoenstadt). There are two forms of Huntington’s disease (Sheth). The most common is adult-onset Huntington’s disease, with persons usually developing symptoms in their middle 30s and 40s (Sheth). There is an early onset form of Huntington’s disease, beginning in childhood or adolescence, and makes up a small percentage of the Huntington’s population (Sheth). Huntington’s disease is a genetic disorder with a short history, a plethora of symptoms, and devastating consequences, with no current cure in sight.

“The time from disease onset to death is often about 10 to 30 years. Juvenile onset usually results in death within 10 years” (Huntington's disease, 2014). The rate of progression varies from person to person. The disease itself will not kill you, but complications from the disease. Pneumonia is the top cause of death of HD at 51.1 percent (Liou, 2010). Heart attack, kidney failure, gastrointestinal disease, and suicide are also some of the top complications with Huntington’s

Huntington Disease is a progressive brain disorder which causes uncontrolled movements, loss of thinking ability, and emotional problems. There are two types of Huntington Disease, Adult-onset and Juvenile. Adult-onset is the most common form of Huntington Disease and those diagnosed live about fifteen to twenty years after beginning symptoms. The early signs and symptoms include depression, small involuntary movements, irritability, poor coordination, difficulty in making decisions, and difficulty retaining new information. As it progresses, the involuntary movements become more pronounced causing issue with walking, speaking, thinking, reasoning abilities, and personality changes (1).

The pathology of Huntington’s is a progressive, fatal, neurodegenerative disorder that is the result of an inherited autosomal dominant trait. Huntington’s is caused by an expanded huntingtin (HTT) gene that is located in the arm of chromosome 4, that encodes an abnormally long polyglutamine repeat protein. This mutation that was found about 20 years ago, we still do not have further knowledge on the mechanism in which the abnormally long polyglutamine repeat in the HTT protein worsens the nerve cells in specific brain region. Researchers find it challenging since the HTT protein prevails in all parts of the brain. Though, understanding the genetics of HTT helped investigators develop animal and cellular models to gain a closer look at the pathogenesis of Huntington’s. This investigation has led to the knowledge that mutated HTT is toxic to striated neurons, and that is related to some of the hundred proteins that networks with HTT. Though, as much of a help as animal and cellular models are, it will still not be sufficient enough to reveal an effective treatment. The conclusion from the animal and cellular models is that they need to be validated by examining and running tests on human autopsy tissues from prior Huntington’s patients, as well as controlled subjects.

Imagine not remembering the names of your family members, having difficulty swallowing, not being able to control your movements. Imagine being trapped in a body that is turning against you, slowly deteriorating around you and you are helpless to stop it. This is the very real and terrifying reality for those with Huntington’s disease. “Many describe the symptoms of HD as having ALS, Parkinson’s and Alzheimer’s – simultaneously.” This disease isn’t picky, it devastates the families of people from all races or ethnic groups around the world, and a person’s sex isn’t an issue. “Huntington’s disease is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain.” This disease is passed from