Inherited Creutzfeldt-Jakob disease

Inherited Creutzfeldt-Jakob disease (also called familial CJD or genetic CJD) is a very rare and serious brain disorder caused by a change (mutation) in the PRNP gene, which provides instructions for making a protein called prion protein. When this gene is mutated, the prion protein folds into an abnormal shape. These misfolded proteins, called prions, build up in the brain and cause rapid, progressive damage to brain cells. This leads to tiny holes forming in the brain tissue, giving it a sponge-like appearance under a microscope — which is why these diseases are sometimes called "spongiform encephalopathies." The disease typically begins in adulthood, usually between the ages of 40 and 60, though onset can vary. Early symptoms often include memory problems, personality changes, difficulty thinking clearly, and problems with coordination or balance. As the disease progresses, patients may experience rapid mental decline (dementia), involuntary muscle jerks (myoclonus), vision problems, difficulty speaking or swallowing, and eventually an inability to move or communicate. The progression is usually fast, often over months rather than years. Unfortunately, there is currently no cure for inherited CJD and no treatment that can slow or stop the disease. Care focuses on managing symptoms and providing comfort. Research is ongoing to find therapies that might target the underlying prion process, but as of now, the disease remains fatal. Genetic counseling is very important for affected families, as the mutation can be passed from parent to child.

Bring these to your next appointment

• Q1.What specific PRNP mutation do I have, and what does it mean for my expected disease course?,Should my family members be tested for this mutation, and how should we approach genetic counseling?,Are there any clinical trials or experimental treatments I might be eligible for?,What palliative care and support services are available to help manage symptoms?,How quickly should we expect the disease to progress, and how should we plan ahead?,What advance care planning steps should we take now?,Are there specialized prion disease centers where I can receive expert care?

Common questions about Inherited Creutzfeldt-Jakob disease

Related conditions

Other rare diseases commonly researched alongside Inherited Creutzfeldt-Jakob disease.

• Fatal familial insomnia→
• Kuru→
• Sporadic Creutzfeldt-Jakob disease→