NORD gratefully acknowledges Dr Joao Ricardo Mendes de Oliveira, MD, PhD, Department of Neuropsychiatry, Federal University of Pernambuco, Brazil, for assistance in the preparation of this report.
Primary familial brain calcification (PFBC) is a rare neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) of unknown cause. Associated symptoms include progressive deterioration of cognitive abilities (dementia), loss of contact with reality (psychosis), mood swings and loss of acquired motor skills. As the condition progresses, paralysis may develop that is associated with increased muscle stiffness (rigidity) and restricted movements (spastic paralysis). Additional abnormalities may include relatively slow, involuntary, continual writhing movements (athetosis) or chorea, a related condition characterized by irregular, rapid, jerky movements.Introduction
Primary familial brain calcification has recently become the preferred name for this condition because mutations in specific genes are now known to be the cause. Previously, familial idiopathic basal ganglia calcification was the preferred name. Fahr's disease is often used for either familial or sporadic basal ganglia calcification, and it is unknown if these are the same or different diseases.
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