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https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#1
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28049945/inflammatory-effects-of-nitrogen-containing-bisphosphonates-n-bps-modulation-by-non-n-bps
#2
Kazuhiro Shima, Masahiro Tsuchiya, Takefumi Oizumi, Teruko Takano-Yamamoto, Shunji Sugawara, Yasuo Endo
Bisphosphonates (BPs) are used against diseases with enhanced bone resorption. Those classed as nitrogen-containing BPs (N-BPs) exhibit much stronger anti-bone-resorptive effects than non-nitrogen-containing BPs (non-N-BPs). However, N-BPs carry the risk of inflammatory/necrotic side effects. Depending on their side-chains, BPs are divided structurally into cyclic and non-cyclic types. We previously found in mice that etidronate and clodronate (both non-cyclic non-N-BPs) could reduce the inflammatory effects of all three N-BPs tested (cyclic and non-cyclic types), possibly by inhibiting their entry into soft-tissue cells via SLC20 and/or SLC34 phosphate transporters...
2017: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/27984190/mutation-screening-of-pdgfb-gene-in-chinese-population-with-primary-familial-brain-calcification
#3
Xiang-Ping Yao, Chong- Wang, Hui-Zhen Su, Xin-Xin Guo, Ying-Qian Lu, Miao Zhao, Yao-Bin Liu, Jing-Hui Lai, Hai-Ting Chen, Ning Wang, Wan-Jin Chen
BACKGROUND: Until recently, primary familial brain calcification (PFBC) has been determined by four genes, SLC20A2, PDGFRB, PDGFB and XPR1. No studies have been carried out to analyze the gene mutation of PDGFB in Chinese population. OBJECTIVE: To screen mutations of PDGFB gene in a large cohort of Chinese PFBC patients with no SLC20A2 mutations. METHODS: We recruited 192 PFBC patients, including 21 index cases and 171 sporadic cases, in our study...
October 28, 2016: Gene
https://www.readbyqxmd.com/read/27943094/primary-brain-calcification-causal-pit2-transport-knockout-variants-can-exert-dominant-negative-effects-on-wild-type-pit2-transport-function-in-mammalian-cells
#4
Frederik Tibert Larsen, Nina Jensen, Jacob Kwasi Autzen, Iben Boutrup Kongsfelt, Lene Pedersen
Primary brain calcification (PBC) is a neurodegenerative disorder characterized by calcium-phosphate deposits in the basal ganglia and often also other areas of the brain. The prevalent clinical manifestations are cognitive impairment, neuropsychiatric symptoms, and movement disorders. In recent years, monoallelic variants in SLC20A2, which encodes the type III sodium-dependent inorganic phosphate (Pi) transporter 2 (PiT2), have been linked to the familial form of PBC in 40-50% of the families reported worldwide as well as to sporadic cases of PBC...
December 9, 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27862320/primary-familial-brain-calcification-in-the-ibgc2-kindred-all-linkage-roads-lead-to-slc20a2
#5
EDITORIAL
Amit Batla, Maria Stamelou
No abstract text is available yet for this article.
December 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27777849/living-with-idiopathic-basal-ganglia-calcification-3-a-qualitative-study-describing-the-lives-and-illness-of-people-diagnosed-with-a-rare-neurological-disease
#6
Tomiko Takeuchi, Koko Muraoka, Megumi Yamada, Yuri Nishio, Isao Hozumi
PURPOSE: Idiopathic basal ganglia calcification (IBGC) is a rare, intractable disease with unknown etiology. IBGC3 is a familial genetic disease defined by genetic mutations in the major causative gene (SLC20A2). People with IBGC3 experience distress from the uncommon nature of their illness and uncertainty about treatment and prognoses. The present study aimed to describe the lives and illness of people with IBGC3. METHODS: Participants were recruited from patients aged 20 years or older enrolled in a genetic study, who were diagnosed with IBGC3 and wanted to share their experiences...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27726124/primary-familial-brain-calcification-linked-to-deletion-of-5-noncoding-region-of-slc20a2
#7
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
https://www.readbyqxmd.com/read/27671522/primary-familial-brain-calcification-in-the-ibgc2-kindred-all-linkage-roads-lead-to-slc20a2
#8
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...
December 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27380911/new-studies-on-knockout-mouse-for-the-slc20a2-gene-show-much-more-than-brain-calcifications
#9
D P Bezerra, J R M Oliveira
No abstract text is available yet for this article.
August 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27245298/identification-of-partial-slc20a2-deletions-in-primary-brain-calcification-using-whole-exome-sequencing
#10
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...
November 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27230854/xpr1-mutations-are-a-rare-cause-of-primary-familial-brain-calcification
#11
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
https://www.readbyqxmd.com/read/27227165/white-matter-involvement-in-a-family-with-a-novel-pdgfb-mutation
#12
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
https://www.readbyqxmd.com/read/27184385/vitamin-d-receptor-agonist-calcitriol-reduces-calcification-in-vitro-through-selective-upregulation-of-slc20a2-but-not-slc20a1-or-xpr1
#13
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
https://www.readbyqxmd.com/read/27150146/the-bisphosphonates-clodronate-and-etidronate-exert-analgesic-effects-by-acting-on-glutamate-and-or-atp-related-pain-transmission-pathways
#14
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
https://www.readbyqxmd.com/read/26976513/primary-brain-calcification-in-patients-undergoing-treatment-with-the-biphosphanate-alendronate
#15
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...
March 15, 2016: Scientific Reports
https://www.readbyqxmd.com/read/26952749/slc20a2-deficiency-results-in-fetal-growth-restriction-and-placental-calcification-associated-with-thickened-basement-membranes-and-novel-cd13-and-laminin%C3%AE-1-expressing-cells
#16
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
https://www.readbyqxmd.com/read/26923164/the-type-iii-transporters-pit-1-and-pit-2-are-the-major-sodium-dependent-phosphate-transporters-in-the-mice-and-human-brains
#17
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
https://www.readbyqxmd.com/read/26860091/primary-familial-brain-calcification-in-a-norwegian-family-caused-by-a-novel-slc20a2-gene-mutation
#18
LETTER
Oddveig Røsby, Andrea Legati, Giovanni Coppola
No abstract text is available yet for this article.
March 2016: Journal of Neurology
https://www.readbyqxmd.com/read/26822507/slc20a2-deficiency-in-mice-leads-to-elevated-phosphate-levels-in-cerbrospinal-fluid-and-glymphatic-pathway-associated-arteriolar-calcification-and-recapitulates-human-idiopathic-basal-ganglia-calcification
#19
Mary Catherine Wallingford, Jia Jun Chia, Elizabeth M Leaf, Suhaib Borgeia, Nicholas W Chavkin, Chenphop Sawangmake, Ken Marro, Timothy C Cox, Mei Y Speer, Cecilia 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 2017: Brain Pathology
https://www.readbyqxmd.com/read/26660102/slc20a2-is-critical-for-maintaining-a-physiologic-inorganic-phosphate-level-in-cerebrospinal-fluid
#20
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
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