Familial Creutzfeldt-Jakob Disease (fCJD) is a rare and hereditary neurodegenerative disorder characterized by the accumulation of abnormal prion protein in the brain. It is a subset of the broader Creutzfeldt-Jakob Disease (CJD) family of disorders, which also includes sporadic CJD and variant CJD.
fCJD is transmitted through an autosomal dominant inheritance pattern, which means that individuals who inherit an abnormal gene from one affected parent have a 50% chance of developing the disease. The abnormal gene in fCJD is responsible for producing a faulty prion protein, which causes other normal prion proteins in the brain to misfold, leading to the formation of plaques and the progressive destruction of brain tissue.
Symptoms of fCJD typically appear in adulthood and may include rapidly progressive dementia, muscle stiffness, difficulties with coordination and movements, sensory disturbances, and behavioral changes. As the disease progresses, individuals often experience profound physical and cognitive impairment, leading to a state of immobility and inability to communicate. The average duration of the disease is about one year, and unfortunately, there is currently no cure for fCJD.
Diagnosis of familial Creutzfeldt-Jakob Disease involves clinical evaluation, electroencephalography (EEG), magnetic resonance imaging (MRI), and analysis of cerebrospinal fluid. Genetic testing may also be performed to identify mutations in the PRNP gene, which is associated with fCJD.
Given its hereditary nature and devastating impact on individuals and their families, fCJD requires comprehensive medical, psychological, and social support to manage its symptoms and reduce its burden.
