Primary familial brain calcification: Genetic analysis and clinical spectrum.
Identifieur interne : 000466 ( Main/Exploration ); précédent : 000465; suivant : 000467Primary familial brain calcification: Genetic analysis and clinical spectrum.
Auteurs : Ilaria Taglia [Pays-Bas] ; Andrea Mignarri ; Simone Olgiati ; Elisabetta Menci ; Patrizia L. Petrocelli ; Guido J. Breedveld ; Cesa Scaglione ; Paolo Martinelli ; Antonio Federico ; Vincenzo Bonifati ; Maria Teresa DottiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Brain (pathology), Brain (radiography), Brain Diseases (genetics), Brain Diseases (pathology), Brain Diseases (physiopathology), Calcinosis (genetics), Calcinosis (pathology), Calcinosis (physiopathology), Female, Genetic Testing, Humans, Male, Middle Aged, Mutation (genetics), Sodium-Phosphate Cotransporter Proteins, Type III (genetics), Tomography Scanners, X-Ray Computed.
- MESH :
- chemical , genetics : Sodium-Phosphate Cotransporter Proteins, Type III.
- genetics : Brain Diseases, Calcinosis, Mutation.
- pathology : Brain, Brain Diseases, Calcinosis.
- physiopathology : Brain Diseases, Calcinosis.
- radiography : Brain.
- Adolescent, Adult, Aged, Female, Genetic Testing, Humans, Male, Middle Aged, Tomography Scanners, X-Ray Computed.
Abstract
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.
DOI: 10.1002/mds.26053
PubMed: 25284758
Affiliations:
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Le document en format XML
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Breedveld</name></author><author><name sortKey="Scaglione, Cesa" sort="Scaglione, Cesa" uniqKey="Scaglione C" first="Cesa" last="Scaglione">Cesa Scaglione</name></author><author><name sortKey="Martinelli, Paolo" sort="Martinelli, Paolo" uniqKey="Martinelli P" first="Paolo" last="Martinelli">Paolo Martinelli</name></author><author><name sortKey="Federico, Antonio" sort="Federico, Antonio" uniqKey="Federico A" first="Antonio" last="Federico">Antonio Federico</name></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author><author><name sortKey="Dotti, Maria Teresa" sort="Dotti, Maria Teresa" uniqKey="Dotti M" first="Maria Teresa" last="Dotti">Maria Teresa Dotti</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:25284758</idno><idno type="pmid">25284758</idno><idno type="doi">10.1002/mds.26053</idno><idno type="wicri:Area/PubMed/Corpus">000369</idno><idno type="wicri:Area/PubMed/Curation">000369</idno><idno type="wicri:Area/PubMed/Checkpoint">000470</idno><idno type="wicri:Area/Ncbi/Merge">004134</idno><idno type="wicri:Area/Ncbi/Curation">004134</idno><idno type="wicri:Area/Ncbi/Checkpoint">004134</idno><idno type="wicri:Area/Main/Merge">000466</idno><idno type="wicri:Area/Main/Curation">000466</idno><idno type="wicri:Area/Main/Exploration">000466</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Primary familial brain calcification: Genetic analysis and clinical spectrum.</title><author><name sortKey="Taglia, Ilaria" sort="Taglia, Ilaria" uniqKey="Taglia I" first="Ilaria" last="Taglia">Ilaria Taglia</name><affiliation wicri:level="3"><nlm:affiliation>Department of Medicine, Surgery and Neurosciences, University of Siena, Italy; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Medicine, Surgery and Neurosciences, University of Siena, Italy; Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Mignarri, Andrea" sort="Mignarri, Andrea" uniqKey="Mignarri A" first="Andrea" last="Mignarri">Andrea Mignarri</name></author><author><name sortKey="Olgiati, Simone" sort="Olgiati, Simone" uniqKey="Olgiati S" first="Simone" last="Olgiati">Simone Olgiati</name></author><author><name sortKey="Menci, Elisabetta" sort="Menci, Elisabetta" uniqKey="Menci E" first="Elisabetta" last="Menci">Elisabetta Menci</name></author><author><name sortKey="Petrocelli, Patrizia L" sort="Petrocelli, Patrizia L" uniqKey="Petrocelli P" first="Patrizia L" last="Petrocelli">Patrizia L. Petrocelli</name></author><author><name sortKey="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J" last="Breedveld">Guido J. Breedveld</name></author><author><name sortKey="Scaglione, Cesa" sort="Scaglione, Cesa" uniqKey="Scaglione C" first="Cesa" last="Scaglione">Cesa Scaglione</name></author><author><name sortKey="Martinelli, Paolo" sort="Martinelli, Paolo" uniqKey="Martinelli P" first="Paolo" last="Martinelli">Paolo Martinelli</name></author><author><name sortKey="Federico, Antonio" sort="Federico, Antonio" uniqKey="Federico A" first="Antonio" last="Federico">Antonio Federico</name></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author><author><name sortKey="Dotti, Maria Teresa" sort="Dotti, Maria Teresa" uniqKey="Dotti M" first="Maria Teresa" last="Dotti">Maria Teresa Dotti</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Brain (pathology)</term><term>Brain (radiography)</term><term>Brain Diseases (genetics)</term><term>Brain Diseases (pathology)</term><term>Brain Diseases (physiopathology)</term><term>Calcinosis (genetics)</term><term>Calcinosis (pathology)</term><term>Calcinosis (physiopathology)</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Sodium-Phosphate Cotransporter Proteins, Type III (genetics)</term><term>Tomography Scanners, X-Ray Computed</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sodium-Phosphate Cotransporter Proteins, Type III</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Brain Diseases</term><term>Calcinosis</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Brain Diseases</term><term>Calcinosis</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Brain Diseases</term><term>Calcinosis</term></keywords><keywords scheme="MESH" qualifier="radiography" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Tomography Scanners, X-Ray Computed</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Hollande-Méridionale</li></region><settlement><li>Rotterdam</li></settlement></list><tree><noCountry><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><name sortKey="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J" last="Breedveld">Guido J. Breedveld</name><name sortKey="Dotti, Maria Teresa" sort="Dotti, Maria Teresa" uniqKey="Dotti M" first="Maria Teresa" last="Dotti">Maria Teresa Dotti</name><name sortKey="Federico, Antonio" sort="Federico, Antonio" uniqKey="Federico A" first="Antonio" last="Federico">Antonio Federico</name><name sortKey="Martinelli, Paolo" sort="Martinelli, Paolo" uniqKey="Martinelli P" first="Paolo" last="Martinelli">Paolo Martinelli</name><name sortKey="Menci, Elisabetta" sort="Menci, Elisabetta" uniqKey="Menci E" first="Elisabetta" last="Menci">Elisabetta Menci</name><name sortKey="Mignarri, Andrea" sort="Mignarri, Andrea" uniqKey="Mignarri A" first="Andrea" last="Mignarri">Andrea Mignarri</name><name sortKey="Olgiati, Simone" sort="Olgiati, Simone" uniqKey="Olgiati S" first="Simone" last="Olgiati">Simone Olgiati</name><name sortKey="Petrocelli, Patrizia L" sort="Petrocelli, Patrizia L" uniqKey="Petrocelli P" first="Patrizia L" last="Petrocelli">Patrizia L. Petrocelli</name><name sortKey="Scaglione, Cesa" sort="Scaglione, Cesa" uniqKey="Scaglione C" first="Cesa" last="Scaglione">Cesa Scaglione</name></noCountry><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Taglia, Ilaria" sort="Taglia, Ilaria" uniqKey="Taglia I" first="Ilaria" last="Taglia">Ilaria Taglia</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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