familial Creutzfeldt-Jakob disease

Familial Creutzfeldt-Jakob disease (fCJD) is a rare, fatal neurodegenerative disorder affecting the central nervous system. It is a type of transmissible spongiform encephalopathy, characterized by the destruction of brain tissue, creating a spongelike appearance.1

fCJD is caused by an abnormal protein called a prion, which accumulates in nerve cells and leads to neurodegeneration. In familial cases, a mutation in the PRNP gene, which encodes the prion protein, is inherited from a parent. This genetic mutation can be passed down in a dominant pattern, meaning only one mutated copy of the gene is needed for the disease to occur.1

Symptoms typically appear in adults between 40 and 70 years old and include behavioral changes, progressive dementia, vision problems, and involuntary movements. The disease is usually fatal within a year of symptom onset. There is no known cure, and treatment focuses on supportive care.1