A SLC20A2 mutation identified in an asymptomatic patient with brain calcification

Primary familial brain calcification (PFBC) also known as Fahr's disease is a clinically heterogeneous neurodegenerative disorder characterized by progressive neuropsychiatric and movement disorders, caused by symmetric and bilateral calcification in basal ganglia but often in thalami, cerebellum and subcortical white matter.Recent evidence suggests that variants in SLC20A2 gene are responsible for most cases identified in Primary familial brain calcification. SLC20A2, localized on chromosome 8p.11.21, encodes for the sodium-dependent inorganic phosphate transporter 2 (PiT2). In this letter we reported a new case carrying the p.Leu7Phefs*10 variant in heterozygous form.