Huntington Disease Case Study

Huntington’s disease begins affecting the organs, it destroys the function of the multiple roles of the nervous system and the brain cells. The disease causes advanced deterioration and loss of brain cells, and contributes to a devastating loss of motor functions followed by advanced cognitive and intellectual impairment.

Huntington's Disease is a devastating and progressive neurological disorder that resu lts primarily from degeneration of nerve cells deep in the center of the brain. The condition was first described by George Huntington, a physician in New York, in 1872. Even then, the physician recognized the all-encompassing factors of the disorder when describing it as, "coming on gradually but surely, increasing by degrees, and often occupying years in its development until the hapless sufferer is but a quivering wreck of his former self".

Huntington’s Disease (HD) is a genetic disorder in which the necrosis of cells in the brain causes early death [9]. The neurodegeneration of the brain leads to mechanical and psychological symptoms, which can present normally from 30 to 50 years of age or even earlier, which is referred to as Juvenile Huntington’s Disease [3,5,6]. Some mechanical symptoms of HD are change in gait, uncontrolled or sudden movement, abnormal face movement, turning the whole head instead of using the eyes, difficulty swallowing, impairment of speech and general decrease of motor skills [1]. Psychological symptoms include but are not limited to paranoia, irritability, mood swings, changes in behavior such as agitation or instability and

Huntington's disease is caused by a faulty gene. They are made up of DNA and packed onto strands called chromosomes. We have two copies of all our genes, so our chromosomes are in pairs. We have forty six chromosome’s which is twenty three pairs. The faulty gene that causes Huntington's disease is found on chromosome number four. The normal gene produces a protein called huntingtin but the faulty gene contains an abnormal area of what are called CAG repeats. This area is larger than normal and it produces a mutant form of the protein huntingtin. Cells in certain parts of the brain especially the basal ganglia and parts of the cortex are sensitive to the effects of the abnormal huntingtin therefore this makes them function poorly and eventually

Huntington’s Disease (HD) is a genetically inherited, progressive, autosomal dominant, fatal neurodegenerative disease that’s characterized by behavioral difficulties, decline of cognitive abilities, abnormal involuntary movements (chorea), and muscle spasms (dystonia) (1). These characteristics help diagnose patients with HD, but a genetic test can be done to prove that one has the disorder. The gene responsible is that which produces the huntingtin protein in chromosome 4; the defect causes extra repeats of the chemical code (2).

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 is passed down from parent to child. The disease comes from a defect in chromosome four that triggers the production of defective a defective protein called “huntingtin”, which kill off brain cells affecting reasoning and motor skills. Unfortunately the defective chromosome four is dominant and can appear even if one parent is not a carrier of Huntington’s Disease. In a person free from the disease, the activity of chromosome four and it’s normal huntingtin is

Huntington disease is a destructive brain disorder for which there are currently no cure. Some medications have been proven to ease symptoms of the disease including Tetrabenazine which is a medication which helps conceal the uncontrollable jerking and writhing movements. The most promising approach to curing Huntington disease is developing drugs that would tell our cells to make less of the damaging Huntington protein. Scientist are on the verge of using gene therapy to correct the mistakes in our DNA causing Huntington disease.

Dementia includes memory loss, decrease in thinking processes, and trouble understanding basic information. The nerve cells in the caudate nucleus and putamen degrative are the most effected regions of the brain. The caudate nucleus and putamen together make up the dorsal striatum, which is found in the basal ganglia. Researchers have narrowed down chromosome 4 to be the localized place of this disease. The repeat of CAG coding for a protein involved in nerve cell function. Normally people would only have CAG repeated about 11-26 times, but for people suffering from Huntington’s Disease it could be repeated more than 40 times, (Crozier,

Huntington's Disease causes the progressive breakdown (Degeneration) of nerve cells in the brain. Huntington's disease has a big impact on a person's functional abilities and usually results in movement, thinking, and psychiatric disorders. When the disease develops before age 20, the condition is called juvenile Huntington's disease. An earlier emergence of the disease often results in a somewhat different set of indications and faster disease progression. Huntington’s Disease mostly causes movement, thinking, and psychiatric disorders with a wide spectrum of signs and symptoms. Some symptoms include Movement Disorders which can lead to involuntary jerking or writhing movements and difficulty with the physical production of speech or swallowing. Thinking Disorders which make you have a lack of awareness of one's own behaviors/abilities and slowness in processing thoughts or have trouble finding words. It also can make you have Psychiatric Disorders which can make you have a feeling of sadness or irritability, Fatigue, and loss of energy, and frequent thoughts of death, dying or suicide. Now for the causes of disease, Huntington's disease is caused by an inherited defect in a single gene. Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disease. With the exception of genes on the sex chromosomes, A person inherits two copies of every gene, one copy from mom and one from dad. A parent with a defective gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, Therefore, Has a 50 percent chance of inheriting the gene that causes the Genetic

gene pool has been traced back to the 1800's to a woman named Maria Concepcion.

Huntington’s disease is caused by a mutation in the gene for a protein called huntingtin. The defect causes the cytosine, adenine, and guanine (CAG) building blocks of DNA to repeat many more times than is normal leading to a overproduction of this protein resulting

The following paper will cover a description of Huntington’s disease and the symptoms that go along with it, how to test for Huntington’s disease, a case study, what gene is involved, the chances of

The Huntington disease is a condition inherited in an autosomal, dominant pattern, meaning one copy of the altered gene in each cell, sufficient to cause this disorder. The affected person inherits the altered gene from the affected parent. HTT gene is passed from generation to generation and when the CAG trinucleotide repeats over time, it increases in size. People with adult-onset with the form of the Huntington disease have around 40-50 CAG repeats in a HTT gene. People with a juvenile form of disorder have more than 60 CAG repeats, whilst an individual person have around 27-35 CAG repeats in a HTT gene which cannot develop the Huntington disease but have the risk of having children who will develop this disorder.

People with this genetic disorder get huntington’s disease from their parents. It affects people with the mutated huntingtin (HTT) gene. The huntingtin gene is in chromosome 4 and this is where the mutation occurs. In the huntingtin gene you normally have 10 to 35 CAG repeats. People with Huntington's disease have 36 to 120 CAG repeats in their huntingtin gene. As Huntington's disease gets passed on, the CAG repeats increase. This is how it gets passed on from parent to offspring. People of European descent are more likely to get Huntington's disease. Both females and males express Huntington disease the same. Huntington's disease is a rare genetic disorder that only happens one out of every 10,000 people.15,000 others are carriers and likely to get it. People with European ancestry have a seven out of 100,000 chance of getting Huntington's disease.*