Huntington disease is known to be an inherited disease which is caused by a gene mutation called HTT. A child of a parent with Huntington disease carrier a chance of 50% of having inherited the disease. Huntington disease Symptoms usually begin from early 30’s to 50’s. These symptoms are loss cognition, uncontrolled movements and behavior changes. Since there is no cure for this disease yet many approaches such as Preimplantation and prenatal tests have been made to manage this fatal disease.
Introduction
Huntington’s disease is know to be one of the inherited disorder causes deterioration in human brain cells called Neurons as well as other part of the brain. More than 30,000 Americans have this disease1. Huntington disease can occur
Huntington's disease is an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder.
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
Huntington's disease is an autosomal dominant disorder, which is found on the # 4 chromosome. George Huntington discovered it in 1872. It mainly has an effect on the nervous system. There are around 210,000 bases between D4S180 and D4S127. The disease itself is found in 2% of people in their childhood, and in 5% of the people they were older then 60. (Miller p 16) In the majority of the affected people the disease is detected between the ages of 35-45. In males the disease begins around the time of their childhood. However, in females it begins later in life. This severe symptom has a tendency for the condition to worsen as it is passed on from generation to generation. Huntington’s disease is paternally
Gene is the basic unit of heredity in a living organism. It is also composed of the DNA (deoxyribonucleic acid). Huntington's disease is caused by abnormal genes in the nerve cells in the brain. In the global population Huntington's disease evaluates that for every 100,000 people 5-10 people are going to have Huntington's disease. In the United States, 30,000 are affected by Huntington's disease and 150,000 people have 50 percent risk of evolving this disease. Moreover, in middle east countries Huntington's disease is estimated to affect 3-4 people per 100,000. Explaining the history, meaning and how the genes of Huntington's disease inherited helps to realize the disease and its risk.
The area of the Huntington Gene which is known to mutate contains only one “word” each consisting of three “letters” as Ridley explains (55). The repetition of the bases “C A G” throughout the gene can occur anywhere from once to over one hundred times. The number of repetitions determines whether or not an individual sees the effects of the disease and at what age the symptoms begin. The mutated form of the gene arises when an excessive number of “C A G” repetitions occur. The average number of repeats for a normal Huntington Gene is between ten and fifteen (Ridley, 55). A study presented by Dr. Kathleen Shannon at the General Meeting of the Illinois Chapter of the Huntington’s Disease Society of America on March 7, 1997 concluded that there are specific numerical cut-offs for having Huntington’s.
Huntington’s disease (HD) is a late-onset, usually between 35 and 50 years old, neurodegenerative disorder prevalent in 3-7 per 100,000 people of European ancestry1. The disease, inherited in an autosomal dominant pattern2, is characterized by motor disturbance, intellectual decline, and psychiatric manifestations3. The disease is difficult to detect at an early stage of an individual’s life since its symptoms appear in the third to fifth decade of life. To better understand the disease, investigations were done to identify the gene that is linked with the disease. The researchers in this paper relied on the polymorphic protein markers or enzymes which they excluded in the 20% of the genome. However, the lack of additional markers made it impossible to test the remaining part of the genome.
Huntington’s is a hereditary disease. A crucial part of the diagnosis process is to take a family history. The most efficient way to determine if the individual has this disease would be a DNA determination, showing a CAG repeat of at least 36 on the huntingtin gene that is located on chromosome 4. In most cases, the three main signs of this disease is present in the individuals. More studies are known to use biomarkers to determine the parameter’s as well. More studies are starting to focus on changes in function and changes in the brain images by the use of an MRI. Earlier we stated on how a prominent sign of this disease would be motor dysfunctions, such as chorea. Chorea is due to neurological damage in the brain resulting in altered gait.
Huntington's disease is a genetic disease. It is an autosomal dominant disorder which means that a single defective gene copy will cause the disease because it inherits the defect in a single gene caused by a mutation in the HD (also known as HTT) gene on chromosome 4.
Huntington’s Disease (HD) is defined as being a progressive neurodegenerative condition which can be characterized by cognitive, motor and behavioral problems (Mestre, Ferreira, Coelho, Sampaio, & Costa, 2009). It is an autosomal dominant disease, meaning that if a child’s parent is affected by HD, there is a 50% chance the child will be affected as well. Huntington’s disease (first known as Huntington’s Chorea) was first documented and studied in 1872 by George Huntingon, MD (Aubeeluck & Wilson, 2008, p. 146; Bourne, Clayton, Murch, & Grant, 2006). Almost 150 years later there is still little known about this disease, which contains no cure in sight.
Huntington’s disease causes the breakdown of nerve cells in the brain. It affects the nervous system and is hereditary. As an Autosomal Dominant disorder, it only needs one copy of a faulty gene to develop the disorder. It has been assessed that Huntington’s disease influences around 10.6 and 13.7 for each 100,000 people in the European society. In the American society, 1 in 10,000 will have the disease and furthermore approximately 150,000 Americans also have the 50% chance of developing the illness. It is very common in European descent, however appears to be uncommon in Asian populations. This report will explain how it is caused, the signs and symptoms and how it affects an individual, furthermore it will be explaining
Huntington’s disease, or HD, is a genetic neuro-generative condition that is characterized by progressive dysfunction in motor, cognitive and behavioral abilities. There are about 4-10 cases per 100,000 throughout the world, which makes it one of the most prevalent genetic neuro-generative disorders. Huntington’s disease is a dominant gene mutation that occurs in the huntingtin gene. The result is an excessive repeat of the nucleotide triad cytosine-adenine-guanine (CAG) and causes damage to neurons. The striatum of the brain and the cerebral cortex are most affected by the gene but other parts of the brain atrophy as well. Typically, onset begins around the 4th decade of life although an early onset form can occur before the age of 20.
Huntington's Disease is an inherited autosomal, dominant neurodegenerative disorder. The disease is characterized by a gradual worsening of neuromotor function, mood stability, and cognitive function. Manifestations include: chorea (disordered, involuntary movement), worsening behavioral changes, impaired gait, all leading to complete loss of cognitive faculties, loss of voluntary movement, speech/communication deficits, inability to perform ADLs, dysphagia, dysarthria and dementia. Onset of the disease is around 35 – 40 years of age. Death usually occurs within 10 - 15 years of this onset18.
This paper discusses one of the most well known neurodegenerative diseases named Huntington’s. Recent statistical records showed that the disease is widely spread around the world. Scientists have conducted many researches in order to study the mode of inheritance of the disease as well as to find a possible cure for it. They discovered that the disease is genetically inherited from one generation to another. The aim of this scientific paper is to provide information about this genetic disorder including its history, genetics, inheritance, mechanism, causes, symptoms, diagnosis, treatment and some of the current researches being conducted to study the nature of this disorder. Huntington’s disease has garnered a lot of attention in the last
), Huntington’s disease (HD) is a fatal neurodegenerative disease that causes the progressive breakdown of nerve cells in the brain.
Huntington’s disease is hereditary disorder that is transient as an autosomal dominant gene that occurs at conception per Ignatavicius (2015) pg. 881. In this disease, gamma aminobutyric acid neurotransmitters are destroyed and replaced with glial cells, causing an influx of dopamine. An increase in glutamate also occurs which causes un controllable jerky, rapid movements of the hands, limbs, and face. HD is diagnosed through genetic testing, and signs and symptoms such as choreiform movements and mental status changes leading to dementia per Ignatavicius (2015) pg. 881. Huntington disease consists of three stages; the first stage being the onset of neurologic or psychological symptoms, secondly the increased dependence for care, and finally