These prions then form clusters in the brain, which are responsible for the neurodegenerative effects seen in patients.The P102L mutation, which causes a substitution of proline to a leucine in codon 102, has been found in the prion protein gene (PRNP, on chromosome 20) of most affected individuals. Therefore, it appears this genetic change is usually required for the development of the disease. Diagnosis
GSS can be identified through genetic testing. Testing for GSS involves a blood and DNA examination in order to attempt to detect the mutated gene at certain codons. If the genetic mutation is present, the patient will eventually develop GSS. Treatment
There is no cure for GSS, nor is there any known treatment to slow the progression of the disease. Therapies and medication are aimed at treating or slowing down the effects of the symptoms. The goal of these treatments is to try to improve the patients quality of life as much as possible. There is some ongoing research to find a cure, with one of the most prominent examples being the PRN100 monoclonal antibody. Prognosis
GSS is a disease that progresses slowly, lasting roughly 2–10 years, with an average of approximately five years. The disease ultimately results in death, most commonly from the patient either going into a coma, or from a secondary infection due to the patients loss of bodily functions. Research
Prion diseases, also called transmissible spongiform encephalopathies (TSEs), are neurodegenerative diseases of the brain thought to be caused by a protein that converts to an abnormal form called a prion.
Periodic breathing is clusters of breaths separated by intervals of apnea or near-apnea. As opposed to normal breathing which is usually regular, periodic breathing is defined as three or more episodes of central apnea lasting at least 4 seconds, separated by no more than 30 seconds of normal breathing.Periodic breathing was originally thought to arise from serious neurologic or cardiovascular disease and therefore to carry a poor outlook. It is now known that periodic breathing also tends to occur during sleep, it can occur in healthy persons, and the apnea in periodic breathing is usually central sleep apnea rather than obstructive sleep apnea. Periodic breathing during sleep occurs typically in adult patients with congestive heart failure. Periodic breathing is also a normal variation of breathing found in premature and full term infants. It occurs when the infant has pauses in breathing for no more than 10 seconds at a time followed by a series of rapid, shallow breaths. Then the breathing returns to normal without any stimulation or intervention. These pauses in breathing may be accompanied by minor oxygen desaturation and bradycardia. It usually occurs when the infant is sleeping deeply, but may occur with light sleep or even when awake. Studies have shown that 78% of healthy full-term infants experience episodes of periodic breathing in the first two weeks of life, which typically resolves in the first six months of life. == References ==