Fatal Neurodegenerative Disorder: Prion Protein & Global Occurrence - Research Paper

Introduction

This is a condition of the neurodegenerative disorder with the standard features of the clinical and the diagnostic characteristics.

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The disease is mainly depicted as rapidly progressive and also always fatal. The disease can lead to death normally within one year after infection. The disease is primarily believed to be caused by a case of an abnormal isoform of the cellular glycoprotein referred to as the prion protein. Its occurrence is mainly based across the globe, and the approximated incidences annually in most of the countries, for instance, the United States. The transmissible spongiform encephalopathies (TSEs) or prion diseases are mainly rare, and it is known to affect human beings and animals (Brown, 2012). In this case, the diseases are distinguished the characteristic spongiform changes in relation to the neuronal loss, incubation periods and also the failure of inducing the inflammatory responses.

Statistics

The vast CJD's majority of the patients usually die within one year of the onset of the illness. In about 85% of the patient, Creutzfeldt-Jakob prion disease Occurs as a sporadic disease without any recognized transmission pattern. A smaller patient's proportion, i.e. about 5 to 15 develop the disease because of the inherited prion protein gene mutation (Nitrini, 2013). The inherited forms incorporate; fatal familial insomnia and Gerstmann-Straussler-Scheinker syndrome. The deaths from the multiple causes of death data are mainly based on the codes of ICD-9 for 1979-1998, and those beginning in 1999 are related to the ICD-10 codes with the available computerized literal death certificate data (Collinge, 2010) The death information which was also obtained from the mechanisms of surveillance data include the familial prion diseases. These major rates were projected to the US 2000 standard projected population.

Signs And Symptoms

The first of the CJD's symptoms are mainly the rapid progressive dementia which results in the loss of the memory, changes in the personality as well as the hallucinations. The jerky movements, i.e. the myoclonus typically occurs at about cases of 90% but maybe absent at the initial start (Lasmezas, 2016). Other symptoms which are commonly witnessed include depression, anxiety, paranoia, psychosis and obsessive-compulsive symptoms. The physical challenges follow this, for instance, the speech impairment, coordination dysfunction (ataxia) and balance, rigid posture and changes in gait. In most of the patient with the disease, the symptoms are followed by the movement's, i.e. involuntary movements. There is a great variation of the disease duration; however, the sporadic CJD can be fatal with weeks or even months (Masters, 2013). Most of the people succumb to the disease within the six months after the appearance of the first symptoms, which is often the symptoms of pneumonia as a result of the impaired reflexes of coughs.

The condition's symptoms are caused by the progressive failure of the nerve cells in the brain, which are commonly associated with the abnormal prion protein's build-up forming within the brain. In case of the examination of the brain tissues of the person infected with the CJD using the microscope, some of the tiny holes can be seen where the nerve cells have failed. Some of the brain's parts may resemble a sponge where the prion was infecting the brain's areas.

Cause

CJDs are mainly caused by prions and are considered a type of transmissible spongiform encephalopathy. The prions are special kinds of proteins occurring within the neurons of the central nervous system. The protein can affect the signalling processes once misfolded, leading to the neuron damages and causing degeneration which can result in spongiform appearance in the brain parts which are affected.

Major Categories Of CJD

CJD is the prototype of a family of a rare type of fatal and rare human degenerative disease which is characterized by progressive brain dysfunction. There are four main categories of the CJD, which includes iatrogenic, sporadic, familial and variant. The sporadic type of CJD is the most common and is thought to occur worldwide. For the variant CJD, there is no certainty regarding the exact mode of transmission, but it is possible to be linked to the contaminated foods of the origin of bovine (Collinge, 2010).

For the familial CJD, it is normally an inherited condition, and some of the common forms of this category are Gerstmann-Straussler-Scheinker disease (GSS) and fatal familial insomnia (FFI). Finally, the iatrogenic infection of CJD is inadvertently transmitted from the sporadic cases in the course of surgical treatment (Sikorska, 2012).

Transmission Of The Disease (Cellular Mechanism)

The defective proteins can be transmitted through some of the proteins which are defective and through corneal graft, electrode implants as well as human hormone. The disease affects some of the parts of the human brain. In the form of familial CJDs, a mutation has occurred in the gene for PrP in that family. All the CJD types are transmissible regardless of how they occur in the person (Palmer, 2015). The prions may not be inactivated by means of the routine sterilization process of the surgical instrument.

Treatment

There has been no certain cure for the CJD, but some of the symptoms, for instance, twitching can be managed. The main treatment that can be used is through palliative care. Cases like depression and anxiety can be treated using the antidepressants or the sedatives.

Conclusion

The doctors normally suspect the disease's diagnosis in relation to the typical signs and symptoms as well as the disease's progression. In most of the patients suffering from the condition, the cerebrospinal fluid's protein or even a typical electroencephalogram pattern are both seen as the ways of diagnosing the CJD. However, CJD's confirmatory diagnosis demands immunodiagnostic and neuropathology testing of the tissues of the brain obtained at either autopsy or biopsy. In the iatrogenic cases, person to person transmission of the disease has been associated with the corneal transplant during mater grafts, the peripheral injections of the pooled pituitary gland extracts and the use of the contaminated neurosurgical instruments.

References

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