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P Pasanen, J Mäkinen, L Myllykangas, R Guerreiro, J Bras, M Valori, M Viitanen, M Baumann, P J Tienari, M Pöyhönen, P Baumann
OBJECTIVES: Primary familial brain calcification (PFBC) is a rare neurological disease often inherited as a dominant trait. Mutations in four genes (SLC20A2, PDGFB, PDGFRB, and XPR1) have been reported in patients with PFBC. Of these, point mutations or small deletions in SLC20A2 are most common. Thus far, only one large deletion covering entire SLC20A2 and several smaller, exonic deletions of SLC20A2 have been reported. The aim of this study was to identify the causative gene defect in a Finnish PFBC family with three affected patients...
October 10, 2016: Acta Neurologica Scandinavica
Karen Grütz, Claudia B Volpato, Aloysius Domingo, Daniel Alvarez-Fischer, Uwe Gebert, Günther Schifferle, Ebba Buffone, Zbigniew K Wszolek, Rosa Rademakers, Andreas Ferbert, Andrew A Hicks, Christine Klein, Peter P Pramstaller, Ana Westenberger
BACKGROUND: Linkage analyses of families with primary familial brain calcification (formerly idiopathic basal ganglia calcification [IBGC]) identified 3 candidate loci (IBGC1-3). Recently, SLC20A2 mutations were found in the IBGC1 and IBGC3 families, merging these 2 loci. We here elucidate the genetic cause of primary familial brain calcification in the 'IBGC2' kindred. METHODS: We sequenced known primary familial brain calcification genes and quantified SLC20A2 and PDGFB...
September 27, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
D P Bezerra, J R M Oliveira
No abstract text is available yet for this article.
August 2016: Journal of Molecular Neuroscience: MN
Stéphanie David, Joana Ferreira, Olivier Quenez, Anne Rovelet-Lecrux, Anne-Claire Richard, Marc Vérin, Snejana Jurici, Isabelle Le Ber, Anne Boland, Jean-François Deleuze, Thierry Frebourg, João Ricardo Mendes de Oliveira, Didier Hannequin, Dominique Campion, Gaël Nicolas
Primary brain calcification (PBC) is a dominantly inherited calcifying disorder of the brain. SLC20A2 loss-of-function variants account for the majority of families. Only one genomic deletion encompassing SLC20A2 and six other genes has been reported. We performed whole-exome sequencing (WES) in 24 unrelated French patients with PBC, negatively screened for sequence variant in the known genes SLC20A2, PDGFB, PDGFRB and XPR1. We used the CANOES tool to detect copy number variations (CNVs). We detected two deletions of exon 2 of SLC20A2 in two unrelated patients, which segregated with PBC in one family...
June 1, 2016: European Journal of Human Genetics: EJHG
Mathieu Anheim, Uriel López-Sánchez, Donatella Giovannini, Anne-Claire Richard, Jawida Touhami, Ludovic N'Guyen, Gabrielle Rudolf, Anne Thibault-Stoll, Thierry Frebourg, Didier Hannequin, Dominique Campion, Jean-Luc Battini, Marc Sitbon, Gaël Nicolas
Mutations in XPR1, a gene encoding an inorganic phosphate exporter, have recently been identified in patients with primary familial brain calcification (PFBC). Using Sanger sequencing, we screened XPR1 in 18 unrelated patients with PFBC and no SLC20A2, PDGFB, or PDGFRB mutation. XPR1 variants were tested in an in vitro physiological complementation assay and patient blood cells were assessed ex vivo for phosphate export. We identified a novel c.260T > C, p.(Leu87Pro) XPR1 variant in a 41-year-old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction...
August 2016: Journal of Neurology
Roberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
Primary familial brain calcification (PFBC) (formerly idiopathic basal ganglia calcification; Fahr disease) is an autosomal dominant cerebral microvascular calcifying disorder with variable clinical and imaging features.(1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5).
June 2016: Neurology. Genetics
M P Keasey, R R Lemos, T Hagg, J R M Oliveira
Vitamin D deficiency (hypovitaminosis D) causes osteomalacia and poor long bone mineralization. In apparent contrast, hypovitaminosis D has been reported in patients with primary brain calcifications ("Fahr's disease"). We evaluated the expression of two phosphate transporters which we have found to be associated with primary brain calcification (SLC20A2, whose promoter has a predicted vitamin D receptor binding site, and XPR1), and one unassociated (SLC20A1), in an in vitro model of calcification. Expression of all three genes was significantly decreased in calcifying human bone osteosarcoma (SaOs-2) cells...
2016: Scientific Reports
Kazuhiro Shima, Wataru Nemoto, Masahiro Tsuchiya, Koichi Tan-No, Teruko Takano-Yamamoto, Shunji Sugawara, Yasuo Endo
Bisphosphonates (BPs) are typical anti-bone-resorptive drugs, with nitrogen-containing BPs (N-BPs) being stronger than non-nitrogen-containing BPs (non-N-BPs). However, N-BPs have inflammatory/necrotic effects, while the non-N-BPs clodronate and etidronate lack such side effects. Pharmacological studies have suggested that clodronate and etidronate can (i) prevent the side effects of N-BPs in mice via inhibition of the phosphate transporter families SLC20 and/or SLC34, through which N-BPs enter soft-tissue cells, and (ii) also inhibit the phosphate transporter family SLC17...
2016: Biological & Pharmaceutical Bulletin
J R M Oliveira, M F Oliveira
Brain calcification might be associated with various metabolic, infectious or vascular conditions. Clinically, brain calcification can include symptoms such as migraine, parkinsonism, psychosis or dementia. The term Primary Brain Calcification was recently used for those patients without an obvious cause (formerly idiopathic) while Primary Familial Brain Calcifications was left for the cases with autosomal dominant inheritance. Recent studies found mutations in four genes (SLC20A2, PDGFRB, PDGFB and XPR1). However, these gene represent only 60% of all familial cases suggesting other genes remain to be elucidated...
2016: Scientific Reports
Mary C Wallingford, Hilary S Gammill, Cecilia M Giachelli
The essential nutrient phosphorus must be taken up by the mammalian embryo during gestation. The mechanism(s) and key proteins responsible for maternal to fetal phosphate transport have not been identified. Established parameters for placental phosphate transport match those of the type III phosphate transporters, Slc20a1 and Slc20a2. Both members are expressed in human placenta, and their altered expression is linked to preeclampsia. In this study, we tested the hypothesis that Slc20a2 is required for placental function...
March 2016: Reproductive Biology
Masatoshi Inden, Masaki Iriyama, Miho Zennami, Shin-Ichiro Sekine, Akira Hara, Mitsunori Yamada, Isao Hozumi
PiT-1/SLC20A1 and PiT-2/SLC20A2 are members of the mammalian type-III inorganic phosphate (Pi) transporters encoded by the SLC20 genes. The broad distribution of SLC20A1 and SLC20A2 mRNAs in mammalian tissues is compatible with housekeeping maintenance of intracellular Pi homeostasis by transporting Pi from intrastitial fluid for normal cellular functions. Recently, mutations of SLC20A2 have been found in patients with idiopathic basal ganglia calcification (IBGC), also known as Fahr's disease. However, the localization of PiT-1 and PiT-2 in the normal brain has not been clarified yet...
April 15, 2016: Brain Research
Oddveig Røsby, Andrea Legati, Giovanni Coppola
No abstract text is available yet for this article.
March 2016: Journal of Neurology
M C Wallingford, J Chia, E M Leaf, S Borgeia, N W Chavkin, C Sawangmake, K Marro, T C Cox, M Y Speer, C M Giachelli
Idiopathic basal ganglia calcification is a brain calcification disorder that has been genetically linked to autosomal dominant mutations in the sodium-dependent phosphate co-transporter, SLC20A2. The mechanisms whereby deficiency of Slc20a2 leads to basal ganglion calcification are unknown. In the mouse brain, we found that Slc20a2 was expressed in tissues that produce and/or regulate cerebrospinal fluid, including choroid plexus, ependyma and arteriolar smooth muscle cells. Haploinsufficient Slc20a2 +/- mice developed age-dependent basal ganglia calcification that formed in glymphatic pathway-associated arterioles...
January 29, 2016: Brain Pathology
Nina Jensen, Jacob Kwasi Autzen, Lene Pedersen
Mutations in the SLC20A2-gene encoding the inorganic phosphate (Pi) transporter PiT2 can explain approximately 40% of the familial cases of the rare neurodegenerative disorder primary familial brain calcification (Fahr's disease). The disease characteristic, cerebrovascular-associated calcifications, is also present in Slc20a2-knockout (KO) mice. Little is known about the specific role(s) of PiT2 in the brain. Recent in vitro studies, however, suggest a role in regulation of the [Pi] in cerebrospinal fluid (CSF)...
April 2016: Neurogenetics
Tadashi Kimura, Takeshi Miura, Kenju Aoki, Shoji Saito, Hiroaki Hondo, Takuya Konno, Akio Uchiyama, Takeshi Ikeuchi, Hitoshi Takahashi, Akiyoshi Kakita
Idiopathic basal ganglia calcification (IBGC), or Fahr's disease, is a neurological disorder characterized by widespread calcification in the brain. Recently, several causative genes have been identified, but the histopathologic features of the brain lesions and expression of the gene products remain unclear. Here, we report the clinical and autopsy features of a 62-year-old Japanese man with familial IBGC, in whom an SLC20A2 mutation was identified. The patient developed mild cognitive impairment and parkinsonism...
August 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
N B Stafuzza, B C M Naressi, E Yang, J J Cai, M E J Amaral-Trusty
River buffalo chromosome 1 (BBU1) is a sub-metacentric chromosome homologous to bovine chromosomes 1 and 27. In this study, we constructed a new framework radiation hybrid (RH) map from BBU1 using BBURH5000 panel adding nine new genes (ADRB3, ATP2C1, COPB2, CRYGS, P2RY1, SLC5A3, SLC20A2, SST, and ZDHHC2) and one microsatellite (CSSM043) to the set of markers previously mapped on BBU1. The new framework RH map of BBU1 contained 141 markers (55 genes, 2 ESTs, 10 microsatellites, and 74 SNPs) distributed within one linkage group spanning 2832...
2015: Genetics and Molecular Research: GMR
Roar Fjaer, Eylert Brodtkorb, Ane-Marte Øye, Ying Sheng, Magnus Dehli Vigeland, Kjell Arne Kvistad, Paul Hoff Backe, Kaja Kristine Selmer
BACKGROUND: The genetic understanding of primary familial brain calcification (PFBC) has increased considerably in recent years due to the finding of causal genes like SLC20A2, PDGFRB and PDGFB. The phenotype of PFBC is complex and has as of yet been poorly delineated. The most common clinical presentations include movement disorders, cognitive symptoms and psychiatric conditions. We report a family including two sisters with brain calcifications due to a variant in SLC20A2 and generalized tonic-clonic seizures as the principal phenotypic trait...
November 2015: European Journal of Medical Genetics
Cheng Wang, Xuan Xu, Lulu Li, Tao Wang, Min Zhang, Lu Shen, Beisha Tang, Jingyu Liu
Idiopathic basal ganglia calcification (IBGC), also known as Fahr’s disease, is an inheritable neurodegenerative syndrome characterized by mineral deposits in the basal ganglia and other brain regions. Patients with IBGC are often accompanied with movement disorders, cognitive impairment as well as psychiatric abnormalities. So far, no therapeutic drug has been developed for the treatment of IBGC. Recently, genetic studies have identified several genes associated with IBGC, including SLC20A2, PDGFRB, PDGFB, ISG15 and XPR1...
August 2015: Yi Chuan, Hereditas
D A P Moura, J R M Oliveira
Primary familial brain calcifications (PFBC) compose a rare neurologic condition characterized by a bilateral pattern of hydroxyapatite deposits in basal ganglia, dentate nuclei, and thalamus. PFBC is identified through neuroimaging screenings such as computerized tomography. Patients with PFBC might present a wide variety of neurological symptoms such as mental and motor impairments, often misdiagnosed as Parkinson's disease, schizophrenia, Alzheimer's disease, and migraine. Four genes were confirmed as causative of PFBC: SLC20A2, PDGFB, PDGFRB, and XPR1...
December 2015: Journal of Molecular Neuroscience: MN
Gaël Nicolas, Camille Charbonnier, Roberta Rodrigues de Lemos, Anne-Claire Richard, Olivier Guillin, David Wallon, Andrea Legati, Daniel Geschwind, Giovanni Coppola, Thierry Frebourg, Dominique Campion, João Ricardo Mendes de Oliveira, Didier Hannequin
Primary Familial Brain Calcification (PFBC) is a dominantly inherited cerebral microvascular calcifying disorder with diverse neuropsychiatric expression. Three causative genes have been identified: SLC20A2, PDGFRB and, recently, PDGFB, whose associated phenotype has not yet been extensively studied. We included in the largest published case series of genetically confirmed PFBC, 19 PDGFB (including three new mutations), 24 SLC20A2 (including 4 new mutations), and 14 PDGFRB mutation carriers, from two countries (France and Brazil)...
October 2015: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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