Huntington’s chorea
Huntington’s chorea is a genetic disease, which means that its cause lies within a person’s chromosomes. Unlike viral and bacterial diseases, Huntington’s cannot be caught. Rather, it is inherited by your parents. The specific gene that causes this disease is on chromosome four. Since chromosome four is an autosomal chromosome, men and woman have an equal chance of inheriting the disease (Huntington's Disease (Huntington Disease)). Within this gene is a segment called CAG because it is made up of cytosine, adenine, and guanine. Normally this segment would repeat ten to thirty-five times, but someone with Huntington’s chorea would have many more repeats. This gene plays an important role in the brain’s nerve cells. This is what the abnormal gene causes damage to. (HTT Gene)
Huntington’s chorea is an autosomal dominant disorder. This means that only one copy of the
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These symptoms are caused by the abnormal gene that instructs the body to breakdown nerve cells in the brain. Some movement disorders include involuntary movements and difficulty with voluntary movements. This is called chorea, which is where Huntington’s chorea gets that part of its name. Some other movement impairments include difficulty with swallowing, speech and balance. Irregular eye movements are also common. Psychiatrically, the most common symptom is depression. The depression isn’t a result of receiving the diagnosis; it is actually caused by the injuries in the brain and the changes that it goes through. Bipolar disorder, obsessive-compulsive disorder, and mania are other common psychiatric conditions. Cognitively those affected by Huntington’s experience difficulty focusing, learning, and processing thoughts. In addition, those with this disease cannot control their impulses. They act without thinking and are even sometimes unaware of their behaviors. (Huntington's
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In hereditary CJD, the infected person has inherited an abnormal gene due a family history of the disease or takes a test in which their results are positive for a genetic mutation that is associated with Creutzfeldt-Jakob disease. About 5 to 10 percent of cases of Creutzfeldt - Jakob disease in the United States are hereditary and the United Kingdom has a population in the region of 58 million and there are only a few instances of deaths due to genetic CJD in a year.
...2013) chose to only use male mice in order to avoid the female estrus cycle. Using female mice would enhance this study because females certainly differ biologically from males and may therefore experience different effects of Huntington’s. The knowledge gained as a result of these differences may be beneficial in treating Huntington’s in male and female patients.
In 1993 a consortium of researchers who worked on the DNA samples from families in the Lake Maracaibo region of Venezuela, an area with a high density of HD and significant consanguinity, reported the successful discovery of the gene responsible for the occurrence of this disease, present in chromosome 4 and named it as IT15 (Interesting transcript #15). IT15 later called as the Huntingtin gene (HTT) [2]. HTT is ~10 kilobases (kb) long and translated into a protein of 3144 amino acids with anticipated molecular mass of 348 kDa. Huntigtin protein is expressed in in human and all mammalian cells, where brain and testis has the highest concentration; liver...
The disease is found in a mutation on the HEXA gene. The HEXA gene makes beta-Hexosaminidase A, an enzyme that is necessary for proper spinal cord and brain development. This works to break down GM2 ganglioside, a fatty substance. When a mutation occurs here, the GM2 ganglioside can’t be broken down, accumulating to harmful levels in neurons of the brain and spinal cord, which results in the damaging symptoms of the disease.
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
This disease is caused by a defective gene and was discovered in the 1930's. Scientists are
These deficits include: perseveration, which is the inability to make behavioral shifts in attention, movement and attitude, decreased creativity, poor recall of verbal and nonverbal material, difficulty writing, and deficits in comprehension of logical-grammatical constructions (CJ Long 2005). Other effects of extensive lesions: - easily distracted - disturbances in memory - defects in time sense - decreased anxiety - less critical of oneself - difficulty with unfamiliar analogies - impulsivity
Genetic diseases are diseases passed down through heredity and genes. Tourette Syndrome is one of the more common genetic diseases. Although it is made fun of in television and movies, Tourette Syndrome is a very serious disorder.
Huntington’s disease is named after George Huntington. This disease genetically is an inherited disorder that damages the mind and nervous system. This may affect actions of the body for example like movement, the ability to reason, awareness, and thinking and judgment. It can also affect their behavior. The word genetic is that the disorder is delivered on by each generation of offspring by special codes called genes(Patient.Co.Uk, 2011). Genes are relocated from a parent to offspring and is held to decide some characteristics of the children (Patient.Co.Uk, 2011).
Patients whose lesion is in the Cerebrum & Cerebellum will experience loss of balance and coordination, difficulty speaking, and frequent limb trembles. Speech difficulties vary from slurred words, long pause between words, and swallowing problems. Patients whose lesion is in the Motor nerve tracts will experience weakened and stiffened muscles, blurred vision or vision impaired, and urinary problems. Weakened and stiffened muscles causes walking disabilities and painful feeling of muscle spasms in 6 to 10 people. Patients whose lesion is in the Sensory nerve tract will experience sensory alternations, fatigue, cognitive and emotional dysfunction, and loss of sexual interest. Difference sensations experienced are numbness, itching, burning, stabbing, or tearing pains.
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 fatally rare condition that causes the gradual deterioration of the nerve cells in the victim’s brain, typically affecting persons fro...
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Patients who survived the acute affects of the illness, developed major chronic symptoms in there later years. Such was the case with the main patient in the film, Leonard Lowe, who had the misfortune of acquiring the illness at a young age. The symptoms progressed and left him in a catatonic state along with other survivors. Near the beginning of the film most patients including Leonard are seen motionless in their wheelchairs with a lack of expression on their faces. This accurately resembles the state in which most patients of that disorder are left under. One of the key components damaged in EL is the Basal Ganglia (BG). A major structure in the BG is the Caudate Putamen, which extends into the temporal lobe and amygdala. If the caudate putamen is damaged there is unwanted choreiform (writhing and twitching). Damage to the substantia nigra results in hyperkinetic symptoms seen with EL patients as well as Parkinsonism. Likewise a major projec...