genetic CJD

Genetic Creutzfeldt-Jakob Disease (CJD) is a rare, inherited brain disorder caused by mutations in the PRNP gene, which encodes a protein called prion protein. These abnormal prions accumulate in the brain, leading to rapid neurodegeneration. Symptoms typically include memory loss, personality changes, coordination problems, and visual disturbances. Unlike acquired forms, genetic CJD runs in families due to inherited gene mutations. It is progressive and currently has no cure, often resulting in severe neurological decline and death within months to a few years after symptoms appear. Diagnosis involves genetic testing, clinical evaluation, and brain imaging.