Primary familial brain calcification: Genetic analysis and clinical spectrum

Ilaria Taglia, Andrea Mignarri, Simone Olgiati, Elisabetta Menci, Patrizia L. Petrocelli, Guido J. Breedveld, Cesa Scaglione, Paolo Martinelli, Antonio Federico, Vincenzo Bonifati, Maria Teresa Dotti

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1691-1695
Number of pages5
JournalMovement Disorders
Issue number13
Publication statusPublished - Nov 1 2014


  • Brain calcification
  • Fahr's disease
  • Primary familial brain calcification
  • SLC20A2

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)


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