The Genetic Disorder Fatal Familial Insomnia
Fatal familial insomnia is a genetic disorder. It manifests itself by many symptoms due to the degeneration of a certain part of the brain, the thalamus. The disease also results in the formation of amyloid plaques. This is the build up of a waxy substance made of proteins associated with polysaccharides. The disease is a result of a mutation of a normal protein that is associated with brain tissue. This is the prion protein. In the case of fatal familial insomnia, the mutation occurs 178 amino acids into the normal protein. Were an asparagine should be, an aspartic acid is instead. This disease is an autosomal dominant, which means that both sexes are affected and there are no carriers. If an
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The first stage is progressive insomnia, the trade mark of fatal familial insomnia. The first stage develops over approximately four months and includes a collection of psychiatric problems such as panic attacks and bizarre phobias. The second stage includes hallucinations, panic, agitation and sweating and lasts about five months. The third stage lasts about three months and is total insomnia with weight loss. The individual at this point looks much older and may experience incontinence. The fourth stage is around six months long and is recognized as dementia, total insomnia and sudden death after becoming …show more content…
This treatment involves the insertion of the correct gene into an affected individual altering his/her gene expression making it what it should be for the expression of the correct protein. In order for this to happen, early diagnosis of an individual must be accomplished, possibly by the mentioned biotechniques above. This is so that the defective gene may be repaired before the onset of the disease. In order for this to be possible, the corrective gene must be isolated. Furthermore, the corrective gene must be good for transfer as well as a the proper vector to effectively execute the transfer. Because there is no cure for this illness, gene therapy may be the only answer if it is one day successful.
References
Guilleminault, C., Lugaresi, E., at el. Fatal Familial Insomnia: inherited prion diseases, sleep, and the thalamus. Raven Press, 1994. pp.15-20.
Klug, W.S., Cummings, M.R. Concepts of Genetics. Prentice-Hall, Inc., 1994. pp. 425-427.
Medori, R., Tritschler, H-J., at el. "Fatal Familial Insomnia, a Prion Disease with a
Mutation at Codon 178 of the Prion Protein Gene" New England Journal of
Medicine, 326 (7): 444-449 (1992).
Petersen, R.B., Tabaton, M., at el. "Analysis of the prion Protein gene in Thalamic
Dementia" Neurology, 42 (10): 1859-1863 (1992).
Return Case Studies in Virtual Genetics
the surface structure of these poems appears simplistic, but subtle changes in tone or gesture move the reader from the mundane to the sublime. In an attempt to sleep, the speaker in "Insomnia" moves from counting sheep to envisioning Noah's arc to picturing "all the fish in creation/ leaping a fence in a field of water,/ one colorful species after another." Collins will tackle any topic: his subject matter varies from snow days to Aristotle to forgetfulness. Collins relies heavily on imagery, which becomes the cornerstone of the entire volume, and his range of diction brings such a polish to these poems
Having no sleep can lead to unhealthy lives, relationships, one’s ability to function and interact with the world, and an unbalanced state of body, mind, and spirit. Sleep is crucial to an individual because it is a time where the body rests and restores energy and develops important information and without sleep, the body will slowly disintegrate. Poor sleep quality often is associated with Insomnia, but the two are two different items. Poor sleep quality is where an individual does not get at least 4 hours of sleep, but is still able to sleep and does not have a normal sleeping cycle. Insomnia is classified as a sleeping disorder, where one persistently lacks the ability to sleep or maintain sleep. This paper goes into a deep discussion of what Insomnia is and the two different types, the causes of Insomnia and how it affects a person’s lifestyle, a comparison between Men and Women who have Insomnia, and possible treatments to aid this disorder.
Chronic sleep loss is becoming more common in modern culture and less restricted to sleep-deprived diseases such as insomnia. Suggested to be the result of a number car, industrial, medical, and other occupational accidents, sleep deprivation is beginning to be recognized as a public concern. As a result, the Centers for Disease Control
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
Millions of people suffer from the same tossing and turning every which way, getting their sheets all disarranged and their minds abundantly worse. Patients often report indications of insomnia while sitting in the family health clinic. Insomnia traits include hindrance, falling asleep, continuing to awaken, and rejuvenating before wanted. One may suffer from insomnia if one shows signs of an increased difficulty in attentiveness, decreased communal or scholastic skills, and a diminished mood or enthusiasm. Foldvary-Schaefer 111.
We live our entire life in two states, sleep and awake1. These two states are characterized by two distinct behaviors. For instance, the brain demonstrates a well-defined activity during non-REM sleep (nREM) that is different when we are awake. In the study of sleep by Huber et. al., the authors stated that sleep is in fact a global state2. It is unclear whether this statement means that sleep is a state of global behavioural inactivity or the state of the global nervous system. The notion that sleep is a global state of the nervous system served as basis for sleep researchers to search for a sleep switch. The discovery of the sleep switch, in return, provided evidence and enhanced the notion that sleep is a global state of the nervous system. The switch hypothesis developed from the fact that sleep can be initiated without fatigue and it is reversible1. It was hypothesized that there is something in the brain that has the ability to control the whole brain and initiate sleep. Studies have found a good candidate that demonstrated this ability3. They found a group of neurons in the Ventrolateral Preoptic (VLPO) nucleus. It was a good candidate because it was active during sleep, has neuronal output that can influence the wakefulness pathway, and lesion in the area followed reduce sleep3. The idea that there is something that can control the whole brain and result sleep state supports the idea that sleep is a global state of the nervous system.
Narcolepsy has been above looked for years beforehand knowing a patient has the illness, it is a quickly producing awareness and is continually altering people and their families lives. With nap materializing to be not merely the ultimate pastime, but additionally a survival imperative, the earth of nap scutiny is quite large, bragging countless disparate spans of study. By scrutinizing phenomena like nap disorders neurobiologists can yearn to comprehend the mechanisms of normative nap, in supplement to perfecting treatment for suffers. Narcolepsy is one such disorder that affects an approximated 250, 000 or 1 in 2000 Americans; comparable numbers are approximated for Parkinson's or countless sclerosis (mayo-foundation). An comprehensive, nevertheless oftentimes misdiagnosed illness (fewer than 50, 000 are cognizant of their condition), narcolepsy can be delineated by chronic daytime sleepiness, cataplexy, nap paralysis, and hypanogic hallucinations (rare-disease). The last three of the tetrad of symptoms additionally transpire in non-narcoleptic individuals; nap episodes are the main determinant in diagnosis. Merely 20 to 25 percent of narcoleptics tolerate from all four symptoms (mayo-foundation). This paper has countless goals, all of that involve elucidating the illness and its symptoms in disparate contexts. In order to do this nap will main be elucidated in a slight detail, pursued by a biological and psychological treatment of narcolepsy. Scutiny of narcolepsy and its implications for the upcoming displays steps to be grabbed in order to garner a larger understanding this particular brain/behavior relationship.
There are many causes, treatments, symptoms and ways to diagnose insomnia. With that in mind there are also different kinds of insomnia. There are three main types of insomnia each type has their own symptoms and behaviors that go along with it.
Sleepiness, whether due to sleep apnea, heavy snoring, idiopathic hypersomnolence, narcolepsy or insomnia from any number of sleep-related disorders, threatens millions of Americans' health and economic security (1). Perhaps somewhat most concerning of these disorders are those that allow sleep without having any control over when it happens-idiopathic hypersomnolence and narcolepsy. The two are closely related in that both cause individuals to fall asleep without such control, yet narcolepsy occurs without any dreaming during naps (2). For years, narcoleptic people have been falling asleep in corners, concerned, as they have given numerous attempts to try to stay focused and awake. But besides the excessive fatigue that people experience, there surely must be more that can be associated with causing such sleepiness among people at an uncontrolled level. There might especially not be a reason involving the I-function of the brain, as people are not aware of when necessarily they will fall into their deep sleep.
THESIS STATEMENT: Narcolepsy is a sleep disorder that has a specific medical definition, life-changing symptoms, and there are ways in how people treat it.
Several studies found that alcohol abuse and suicidal ideation was usually accompanied by trauma related insomnia and nightmares. In a longitudinal study, Pigeon, Campbell, Possemato, & Ouimette (2013), examined the prevalence of insomnia and nightmares after six months in eighty combat veterans who met the criteria for sub threshold PTDS. Interviews and self-reports were conducted to measure the severity of insomnia and/or nightmares associated with PTSD (Pigeon et al., 2013). Results indicated that a high PTSD symptom severity level was associated with insomnia; more frequent nightmares; greater alcohol use; and symptoms of depression in the past six months (Pigeon et al., 2013). After six months, veterans were reassessed for whether the insomnia and nightmares frequencies had improved (Pigeon et al., 2013). Out of the entire group of veterans “74% presented with insomnia and 61% endorsed distressing nightmares” (Pigeon et al., 2013, p.549). By the end of the six months, veterans reported a 26% decline in nightmares and a no change in insomnia (Pigeon et al., 2013). The findings demonstrated “a strong association between the presence of sleep disturbance (both insomnia and nightmares) and the severity of both PTSD and depressive symptoms; that the persistence of these symptoms is particularly associated with insomnia; and that insomnia itself does not spontaneously resolve” (Pigeon et al., 2013, p.549). This research established the need for MHNs to implement interventions that will help individuals to cope with the trauma related distress that could contribute drug abuse; suicidal ideation; and insomnia and nightmares. Early interventions for PTSD are necessary to control, reduce or prevent symptoms and the risks they ma...
Almost everyone seem to suffer from not being able to get enough sleep at some time in their life. If you are always tired then that means that you’re not getting enough sleep. As we all know, inadequate sleep which is referred to as insomnia. Insomnia is basically one of the many sleeping disorders that some people may have and is one of the most common sleep disorder. There are many different effects of insomnia which includes some may become less productive, less ambitious, have a poor performance at school, work, or their everyday life tasks. Insomnia is not an illness but it is a symptom which can typically last no more than maybe a few days or it could be long term for some people. Who gets insomnia? According to Bayer (2001) “Approximately 36 out of every 100 Americans have reported experiencing this symptom [insomnia]. However, only 5 out of every 100 Americans consider the problem severe enough to seek medical help” (p. 22).
Insomnia Almost everyone experiences insomnia now and then. When one believes he must be in bed by a certain time every night or that he needs a certain number of hours of sleep, it may be the very thing that is preventing him from going to sleep (Munson 21). It is unfortunately true that many people still suffer from poor sleep but do not know that there are numerous programs that can help them. Insomnia, which is due to various causes and includes a vaiety of symptoms, can be reduced or eliminated in a number of ways. Stress is one of the main causes in determining insomnia. It is a fact of every day life and can be defined as any event which causes a significant emotional response. Happy occasions such as getting married, promoted, or going on a vacation can cause stress reaction, not only because because participation in the event is occurring but also in the preparation. More obvious events that occur throughout one's life are the loss of a job, a loved one, or the need for surgery. In such major life changes, the sources of the emotional response is much more easily identified (Shapiro MacFarlane Hussain 49). There are two types of stress: bad stress or negative stress which destroys your ability to operate at capacity, mentally and physically and good stress which improves your performance (Shapiro 49-50). There are different ways to reduce stress. One should try to find a job he really enjoys. It is not the stress of work that wears one out but the stress of frustration and failure. Two big causes of stress on the job are not knowing what is expected and not having adequate facts or tools. Escaping for a while is another method to help eliminate stress. One can visit a friend, go to a movie, or shop. When he returns, he can attempt to cope with the problem. However, it does not help to keep escaping, the individual should try to cope with problems as promptly as they arise (Hauri 111). Even though it is often difficult to make changes in lifestyle, the effort is worth it. Exchanging stress for a sense of control can lift a heavy weight from one's shoulders. The more control one has over his life during the day, the more likely it is that his night time sleep will become satisfying again (Hauri 113).
Kales, A. (1972). The evaluation and treatment of sleep disorders : Pharmacological and psychological studies. In M. Chase (ed.)The Sleeping Brain. Los Angeles : Brain Information Service.
Sleep disorders are an underestimated public health concern considering that fifty to seventy million Americans are affected. Technological advances in the field of sleep have facilitated various theories to explain the need for and the purpose of sleep. Scientist have uncovered many types of sleep disorders such as insomnia, sleep apnea, and narcolepsy. Sleep disorders affect men ,women, children, the elderly, and the obese in different ways. Factors such as the number of children and the effects of menopause have been studied to determine their effects on sleep. Various treatments have been utilized ranging from non-pharmacologic to pharmacologic methods. Scientist have pinpointed areas of the brain that are involved in sleep deprivation and hormones that ultimately affect sleep.