Gerstmann-Sträussler-Scheinker disease (GSS) is a rare genetic disorder belonging to the group of transmissible spongiform encephalopathies (TSEs), characterized by the abnormal accumulation of an altered form of the prion protein in the brain. GSS is an inherited disease caused by mutations in the PRNP gene, which provides instructions for the production of the prion protein. These mutations lead to the misfolding of the protein, forming aggregates that disrupt normal brain function.
The symptoms of GSS typically appear in adulthood, usually between the ages of 30 and 60, and include progressive neurological impairments. These may involve various cognitive, motor, and psychiatric manifestations, such as memory loss, confusion, personality changes, coordination problems, and muscle stiffness or weakness. As the disease progresses, individuals may also experience difficulty with balance, involuntary movements, speech difficulties, and eventually severe dementia.
The course of GSS is generally rapid, with affected individuals typically succumbing to the disease within 2 to 10 years from the onset of symptoms. Currently, there is no cure for GSS, and treatment is primarily supportive and focuses on alleviating symptoms and improving the patient's quality of life. Genetic counseling is essential for individuals with a family history of GSS, as GSS follows an autosomal dominant pattern of inheritance.
Overall, Gerstmann-Sträussler-Scheinker disease is a rare inherited disorder that causes the progressive degeneration of brain function, leading to a range of cognitive, motor, and psychiatric symptoms, ultimately resulting in severe dementia and a shortened lifespan.
