Overview of Variant Creutzfeldt Jakob Disease

Proteinaceous Infectious Particles, commonly known as Prions, are extremely rare misfolds of the protein PrPc, which cause fatally neurodegenerative diseases, and are theorized to be infectious only by the protein itself (U.S National Library of Medicine, 1998). This “protein-only theory” is still heavily debated today, as some scientists deny the theory, and there isn’t a significant amount of evidence on each side to qualify the theory or disprove it (Soto, C. 2011). The base “Prion” protein is encoded in the gene PRNP, while being non-infectious. Prions are most commonly found in human prion diseases, but they can also be in other animals in the form of Mad Cow Disease and Chronic Wasting Disease, classified as Bovine Spongiform Encephalopathies

Although serious, CJD is rare. Worldwide, there is an estimated one case of Creutzfeldt-Jakob disease diagnosed per million people each year, most commonly in older adults.

Some experts believe this disease is related to the inhalation of pesticides, while others believe it results from the inhalation of chemical elements such as copper, lead, or manganese. It has been linked to heredity. It is believed that 15% of those diagnosed with the disease have a family history of the mutated gene. Scientists believe there are two types of carriers for this gene that determines a diagnosis of Parkinson’s Disease. The first type of carrier guarantees a diagnosis, whereas the second type of carrier only increases the chance of being diagnosed. This theory has yet to be

     Mad Cow Disease, scientifically referred to as (BSE) Bovine Spongiform Encephalopathy, is a disease that affects those humans who eat the meat from infected cows. Mad Cow Disease is one of several fatal brain diseases called (TSE) Transmissible Spongiform Encephalopathy. (USDA) There was evidence of a new illness resembling the sheep disease scrapie. It was technically named BSE but quickly acquired the mad cow tag because of the way infected cattle behave. (CNN) In 1997, there was an award given to Stanley Prusiner, for concluding that a distorted protein called a prion was responsible for Mad Cow Disease, noted the long incubation period made it difficult to distinguish (Bryant).

CTE is primarily characterized by the deposition of the protein ¨tau.¨ These plaque-like accumulations restrict brain activity; moreover,

Abnormal changes happen in the brain, and it appears as a sponge-like holes and gaps, causing deterioration in the areas of the brain. This can turn into spongiform degeneration that results in the progressive neurological and neuromuscular symptoms that are associated with CJD. This disorder is a result from a mutation in the gene that regulates the production of the human protein or direct transmission with abnormal protein in infected brain tissue. Scientist believe that there is a transmissible agent that is responsible for causing CJD. This is a slow virus, since it can take many years from exposure to the appearance of

What is Mad Cow Disease? Mad Cow Disease "is a normally extremely rare neurological disorder that affects the central nervous system of an animal and a human. The disease infested brain of the animal or human is slowly, progressively, and severely damaged. It has been categorized as a disease, which falls into the category of a disease known as Spongiform Encephalopathy. Having Bovine Spongiform Encephalopathy is an over-dramatized way of specifying that one has diseased brain tissue which is; spongy, porous, and no

This week may be the last week I write to you. In my last letter to you, you may have noticed that I seemed depressed and not like myself. I wasn’t completely truthful in that letter. I’m not just having a bad day, I’m diseased with an incurable, fatal disease.

It is a rare, degenerative but fatal brain disorder affecting very a small fraction of persons. The symptoms usually arise at the age of 60 and the person dies within a year. Many researchers believe that this disorder is the result of an abnormal protein known as prion. About 5-10% cases reported in the United States share a genetic basis where this form of dementia is caused by a mutation in the gene for the prion protein. Patients with Creutzfeldt-Jakob disease suffer from the problems associated with muscle coordination, personality changes, impaired memory, judgment making, thinking disability and impaired vision. Other possible symptoms include insomnia and depression. In later stages the persons

Cri du chat syndrome is a rare genetic condition that is caused by the deletion (missing piece) of a genetic material on the small arm of chromosome 5. The cause of this disease is unknown. Some of the symptoms of this disease usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size, widely-spaced eyes, low birth weight, weak muscle tone, and webbing.

Brain disorders are categorized as major health conditions based on the fact that the brain is the control center of the body. Brain disorders come in many forms and at times are difficult to diagnose based on their complexity. A very rare degenerately unchangeable brain disorder of the central nervous system is Creutzfeldt-Jakob disease (CJD). Creutzfeldt-Jakob disease affects one person in a million within a population that is worldwide (Llorens et al., 2015). The USA is known to have two hundred cases of patients diagnosed with Creutzfeldt-Jakob disease each year (Llorens et al., 2015). Although the disease is very rare, it is very deadly because after onset of symptoms of the disease the patient usually passes after a year of diagnosis. Most patients develop the disease around their sixties and typically only have one year left to live (Head et al., 2009). CJD can be categorized etiologically as sporadic, infectious, and inherited neurodegenerative disorder due to the misfolded proteins making it very unique. Symptoms in clinical trials of CJD have consisted of rapid onset of progressive dementia, involuntary muscle contractions, inability to balance, cognitive impairment and visual deterioration (Gozke et al., 2008).

Mad Cow Disease Bovine spongiform encephalophathy ( BSE), which is mainly known as mad cow disease has infected the society and has put the lives of individuals at risk. This was very frightening to the people that ate meat during that time. The terrified people would not even want to eat hamburgers at MacDonald, steak at restaurant and much more. What also alarmed the people was the fact that there was a possibility of getting the human form of mad cow disease. This was called variant Creutzfeldt-Jakob disease (vCJD) which is through tainted blood, but this was only a theory which

Transmissible spongiform encephalopathies (TSEs) are neurodegenerative diseases that are thought to be caused by the misfolding of prion proteins. Prions are able to replicate in the absence of nucleic acids. TSEs include: scrapie, bovine spongiform encephalopathy, Creutzfeldt-Jakob disease, kuru, Gerstmann-Straussler-Scheinker disease, and Fatal Familial Insomnia. They can affect many different animals, including humans. Currently, there are no ways to diagnose, treat, or cure TSEs, as much more research is needed before these diseases are completely understood.

The disease I have chosen to explore is viral encephalitis. Encephalitis refers to brain inflammation (PDR, 2014, Diagnosis), which is rare but can be extremely dangerous (Mayo, 2014, Basics; University of Maryland, 2013, Introduction). Severe cases of encephalitis can lead to permanent damage and death (Mayo, 2014, Complications). Encephalitis can also be caused by bacteria and fungi, or develop as a result of a non-infectious cause, but encephalitis is usually caused by a virus (Mayo, 2014, Causes; PDR, 2014, Basics).

Transmissible spongiform encephalopathies, or prion diseases, are a group of rare but fatal neurologic disorders. They are referred to as “transmissible spongiform encephalopathies” due to the infectious nature of prion diseases and the characteristic spongiform degeneration in the brain (Aguzzi et al, 2008a; Collinge, 2001; Prusiner, 1998; Venneti, 2010). Human prion diseases include Creutzfeldt-Jakob Disease (CJD), kuru, Gerstmann-Sträussler-Scheinker (GSS) and fatal familial insomnia (FFI). They can occur sporadically (sporadic CJD), be inherited from mutations (familiar CJD, GSS, FFI), or acquired by infections (variant CJD). CJD is the most common prion disease: sporadic CJD (sCJD) represents approximately 85% of all human prion diseases with an annual incidence of one case per million people; familial CJD (fCJD) represents 10~15% of all prion diseases, and it is associated with pathogenic mutations in the PRNP gene (Aguzzi et al, 2008a; Venneti, 2010). Prion diseases also occur naturally in animals. They include bovine spongiform encephalopathy (BSE) in cattle, chronic wasting disease (CWD) in elk, and scrapie in sheep. BSE is the only prion disease shown conclusively to be transmitted to humans; its transmission results in the human prion disease variant CJD (vCJD) (Hilton, 2006; Prusiner,