Primary Familial Brain Calcification (Fahr Disease) Due to a Novel Mutation in Solute Carrier 20 A2 Gene

Abstract

Bilateral symmetrical calcification of striatum and pallidum with or without involvement of other brain structures is a rare radiological finding. Genetic causes predominates once hypoparathyroidism is ruled out. Clinical features include a variable combination of neuropsychiatric and motor symptoms, including dystonia, Parkinsonism, ataxia, psychosis, dementia, chorea, and frontal–subcortical cognitive dysfunction. One third of primary familial brain calcification is asymptomatic. Solute carrier 20 A2 gene mutation accounts for the majority of primary familial brain calcification. Here we describe a case of primary brain calcification due to a novel mutation in Solute carrier 20A gene in a 55-year-old woman.