title: A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification.
abstract: BACKGROUND
  Primary familial brain calcification (PFBC) is a rare neurodegenerative disease characterized by bilateral calcifications mostly located in the basal ganglia and in the thalami, cerebellum and subcortical white matter. Clinical manifestations of this disease include a large spectrum of movement disorders and neuropsychiatric disturbances. PFBC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. Three causative genes have been reported: SLC20A2, PDGFRB and PDGFB.
  
  
  OBJECTIVE
  We screened three PFBC Italian families for mutations in the SLC20A2, PDGFRB and PDGFB genes.
  
  
  METHODS
  Phenotypic data were obtained by neurologic examination, CT scan and magnetic resonance imaging. Mutation screening of SLC20A2, PDGFRB and PDGFB was performed by sequencing.
  
  
  RESULTS
  We identified a new heterozygous deletion c.21_21delG (p.L7Ffs*10) in SLC20A2 gene in one of these families. No mutations were detected in the other two families.
  
  
  CONCLUSIONS
  Our data confirm that mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy. Electronic address: monicg_2002@yahoo.it.
authors.forename: Monica
authors.initials: M
authors.lastname: Gagliardi
authors.affiliation: Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Morelli
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Nicoletti
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Perrotta
authors.affiliation: Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Pustorino
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Iannello
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarantino
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000595:Amino Acid Sequence; D001480:Basal Ganglia Diseases / Q000235:genetics*; D001483:Base Sequence; D002114:Calcinosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D019636:Neurodegenerative Diseases / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion; D050611:Sodium-Phosphate Cotransporter Proteins, Type III / Q000235:genetics*
chemical_list: C493589:SLC20A2 protein, human; D050611:Sodium-Phosphate Cotransporter Proteins, Type III
keywords: Fahr's disease; PDGFB; PDGFRB; SLC20A2