What is Primary Familial Brain Calcification

Primary Familial Brain Calcification (PFBC), also known as Fahr's disease, is a rare genetic disorder characterized by abnormal calcium deposits in the brain's basal ganglia and other areas. These deposits can lead to progressive neurological symptoms and impairments. PFBC is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, some cases may occur sporadically without a family history. Symptoms of PFBC can vary widely but commonly include movement disorders, cognitive impairment, psychiatric symptoms, and seizures. Diagnosis is often made through brain imaging, such as CT scans or MRI, which reveal the characteristic calcifications. Unfortunately, there is currently no cure for PFBC, and treatment focuses on managing symptoms and improving quality of life. Genetic counseling may be beneficial for individuals with a family history of PFBC to understand the risk of passing on the condition to future generations.