title: Primary familial brain calcification: Genetic analysis and clinical spectrum.
abstract: 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.
authors.affiliation: Department of Medicine, Surgery and Neurosciences, University of Siena, Italy; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Taglia
authors.forename: Andrea
authors.initials: A
authors.lastname: Mignarri
authors.forename: Simone
authors.initials: S
authors.lastname: Olgiati
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Menci
authors.forename: Patrizia L
authors.initials: PL
authors.lastname: Petrocelli
authors.forename: Guido J
authors.initials: GJ
authors.lastname: Breedveld
authors.forename: Cesa
authors.initials: C
authors.lastname: Scaglione
authors.forename: Paolo
authors.initials: P
authors.lastname: Martinelli
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bonifati
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D002114:Calcinosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011859:Radiography; D050611:Sodium-Phosphate Cotransporter Proteins, Type III / Q000235:genetics*; D015898:Tomography Scanners, X-Ray Computed
chemical_list: C493589:SLC20A2 protein, human; D050611:Sodium-Phosphate Cotransporter Proteins, Type III
keywords: Fahr's disease; SLC20A2; brain calcification; primary familial brain calcification