Background: Primary familial brain calcification (PFBC) is a rare autosomal dominant disorder with bilateral calcification of basal ganglia and other cerebral regions, movement disorders, and neuropsychiatric disturbances. So far, three causative genes have been discovered: SLC20A2, PDGFRB and PDGFB, accounting for approximately 50% of cases. Methods: Seven unrelated families with primary brain calcification were recruited to undergo clinical and genetic analysis, including Sanger sequencing of SLC20A2, PDGFRB, and PDGFB, and copy number analysis of SLC20A2. Results: Mutations in SLC20A2 have been detected in three families: p.Glu368Glyfs*46, p.Ser434Trp, and p.Thr595Met. Intrafamilial phenotype variability has been observed. In spite of this, we found similar neuroimaging pattern among members of the same family. Conclusions: This molecular analysis expands the mutational spectrum of SLC20A2, which remains the major causative gene of primary familial brain calcification, and suggests the existence of disease-causing mutations in at least another, still unknown gene.

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Movement Disorders
Erasmus MC: University Medical Center Rotterdam

Taglia, I., Mignarri, A., Olgiati, S., Menci, E., Petrocelli, P. L., Breedveld, G., … Dotti, M. T. (2014). Primary familial brain calcification: Genetic analysis and clinical spectrum. Movement Disorders, 29(13), 1691–1695. doi:10.1002/mds.26053