Gerstmann-Straussler-Scheinker Disease - A Review

Abstract

Gerstmann-Straussler-Scheinker Disease (GSS) is an extremely rare, usually familial, fatal prion disease. Such disease affects our one of the most important part of our body that is responsible for our thoughts and coordination of our sensory information, the Nervous System. Some particular variations in the PNRP gene leading to the atypical shape of the prion protein give rise to this disease. PRNP encodes a protein called prion protein (Prp). We are unaware of its functions but we do know that Prp plays a very significant role in the functioning of the human brain and other parts of the human nervous system. The destruction of neural cells due to the clumping of abnormal proteins is one of the characteristic features of this disease. The continuous deterioration of the section of our brain responsible for the motor control in a human body, the cerebellum, and different degrees of dementia are the main characteristics of GSS. Weakness in the legs, diminished reflexes, cognitive decline, ataxia including slurred speech and reduced coordination, and spasticity are some of the main symptoms seen in a person suffering from GSS. The median survival time from onset to death of GSS patients ranges from two to ten years after its diagnosis. The objective of this paper to gather all the data and information available about this rare disease so that future researchers who are interested in this field can refer to this paper without having to curate it all by themselves saving time and increasing their efficiency towards solving this mystery. We are very behind in the understanding of the pathophysiological processes that underlie this disease. Through this paper, we have analyzed and reviewed all the literature on this topic to summarize what is our current understanding of this disease and the possible treatments to cure it or alleviate its symptoms. Through a thorough literature review, we can conclude that research on this topic has potential. With mostly case reports on this disease, the research for its cure and treatments for alleviating its symptoms are not yet advanced.