Human prion disease

Human prion disease is a rare and serious group of brain disorders caused by abnormal proteins called prions. These misfolded proteins damage brain cells, leading to rapid and severe neurological decline. The disease is also known by several names depending on the type, including Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), Gerstmann-Sträussler-Scheinker syndrome (GSS), and kuru. Together, these are sometimes called transmissible spongiform encephalopathies (TSEs) because the brain tissue develops a sponge-like appearance under a microscope. Prion diseases affect the brain and nervous system. As the abnormal prion proteins spread and accumulate, they destroy brain tissue. This leads to symptoms such as rapidly worsening memory loss, confusion, personality changes, difficulty walking and coordinating movements, vision problems, and involuntary muscle jerks. Some forms also cause severe sleep disturbances or difficulty swallowing. Unfortunately, there are currently no treatments that can stop or reverse prion disease. Care focuses on keeping patients as comfortable as possible and managing symptoms. The disease progresses quickly in most cases, and it is ultimately fatal. Research into potential therapies is ongoing, but no disease-modifying or curative treatments have been approved to date.

Bring these to your next appointment

• Q1.What type of prion disease do I or my family member have, and how does that affect what to expect?,Should other family members be tested for the PRNP gene mutation?,What symptoms should prompt an emergency visit or call to the care team?,What medications or therapies are available to manage symptoms and improve comfort?,Are there any clinical trials or research studies we should consider?,When should we start talking about palliative care or hospice, and how do we access those services?,What support resources are available for caregivers and family members?

Common questions about Human prion disease