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Updated: Jul 2, 2026

Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
Published on: May 31, 2016
Primary Familial Brain Calcification (Fahr Disease) Due to a Novel Mutation in Solute Carrier 20 A2 Gene
Somarajan Anandan1, Sajeesh S Rajendran2, Joesni Joy1
1Department of Neurology, St. Joseph Hospital, Kollam, Kerala, India.
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.
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