Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.
Identifieur interne : 000B97 ( Main/Exploration ); précédent : 000B96; suivant : 000B98Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.
Auteurs : Susanne A. Schneider [Allemagne] ; John Hardy ; Kailash P. BhatiaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Brain (metabolism), Ceramides (metabolism), Ceruloplasmin (deficiency), Group VI Phospholipases A2 (genetics), History, 19th Century, History, 20th Century, Humans, Iron (metabolism), Iron Metabolism Disorders, Lewy Bodies (pathology), Neuroaxonal Dystrophies, Neurodegenerative Diseases, Pantothenate Kinase-Associated Neurodegeneration (genetics), Pantothenate Kinase-Associated Neurodegeneration (history), Pantothenate Kinase-Associated Neurodegeneration (metabolism), Pantothenate Kinase-Associated Neurodegeneration (pathology), Phosphotransferases (Alcohol Group Acceptor) (classification), Phosphotransferases (Alcohol Group Acceptor) (genetics).
- MESH :
- chemical , classification : Phosphotransferases (Alcohol Group Acceptor).
- chemical , deficiency : Ceruloplasmin.
- chemical , genetics : Group VI Phospholipases A2, Phosphotransferases (Alcohol Group Acceptor).
- chemical , metabolism : Ceramides, Iron.
- genetics : Pantothenate Kinase-Associated Neurodegeneration.
- history : Pantothenate Kinase-Associated Neurodegeneration.
- metabolism : Brain, Pantothenate Kinase-Associated Neurodegeneration.
- pathology : Lewy Bodies, Pantothenate Kinase-Associated Neurodegeneration.
- History, 19th Century, History, 20th Century, Humans, Iron Metabolism Disorders, Neuroaxonal Dystrophies, Neurodegenerative Diseases.
Abstract
In recent years, understanding of the syndromes of neurodegeneration with brain iron accumulation (NBIA) has grown considerably. In addition to the core syndromes of pantothenate kinsase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified. The acknowledged clinical spectrum has broadened, age-dependent presentations have been recognized, and we are becoming aware of overlap between the different NBIA disorders as well as with other diseases. Autopsy examination of genetically confirmed cases has demonstrated Lewy bodies and/or tangles in some subforms, bridging the gap to more common neurodegenerative disorders such as Parkinson's disease. NBIA genes map into related pathways, the understanding of which is important as we move toward mechanistic therapies. Our aim in this review is to provide an overview of not only the historical developments, clinical features, investigational findings, and therapeutic results but also the genetic and molecular underpinnings of the NBIA syndromes.
DOI: 10.1002/mds.23971
PubMed: 22031173
Affiliations:
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Schneider</name><affiliation wicri:level="1"><nlm:affiliation>Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany. susanne.schneider@neuro.uni-luebeck.de</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.23971</idno><idno type="RBID">pubmed:22031173</idno><idno type="pmid">22031173</idno><idno type="wicri:Area/PubMed/Corpus">000F83</idno><idno type="wicri:Area/PubMed/Curation">000F83</idno><idno type="wicri:Area/PubMed/Checkpoint">000C10</idno><idno type="wicri:Area/Ncbi/Merge">003450</idno><idno type="wicri:Area/Ncbi/Curation">003450</idno><idno type="wicri:Area/Ncbi/Checkpoint">003450</idno><idno type="wicri:Area/Main/Merge">000C03</idno><idno type="wicri:Area/Main/Curation">000B97</idno><idno type="wicri:Area/Main/Exploration">000B97</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.</title><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name><affiliation wicri:level="1"><nlm:affiliation>Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany. susanne.schneider@neuro.uni-luebeck.de</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</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="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (metabolism)</term><term>Ceramides (metabolism)</term><term>Ceruloplasmin (deficiency)</term><term>Group VI Phospholipases A2 (genetics)</term><term>History, 19th Century</term><term>History, 20th Century</term><term>Humans</term><term>Iron (metabolism)</term><term>Iron Metabolism Disorders</term><term>Lewy Bodies (pathology)</term><term>Neuroaxonal Dystrophies</term><term>Neurodegenerative Diseases</term><term>Pantothenate Kinase-Associated Neurodegeneration (genetics)</term><term>Pantothenate Kinase-Associated Neurodegeneration (history)</term><term>Pantothenate Kinase-Associated Neurodegeneration (metabolism)</term><term>Pantothenate Kinase-Associated Neurodegeneration (pathology)</term><term>Phosphotransferases (Alcohol Group Acceptor) (classification)</term><term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="classification" xml:lang="en"><term>Phosphotransferases (Alcohol Group Acceptor)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Ceruloplasmin</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Group VI Phospholipases A2</term><term>Phosphotransferases (Alcohol Group Acceptor)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Ceramides</term><term>Iron</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" qualifier="history" xml:lang="en"><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lewy Bodies</term><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" xml:lang="en"><term>History, 19th Century</term><term>History, 20th Century</term><term>Humans</term><term>Iron Metabolism Disorders</term><term>Neuroaxonal Dystrophies</term><term>Neurodegenerative Diseases</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In recent years, understanding of the syndromes of neurodegeneration with brain iron accumulation (NBIA) has grown considerably. In addition to the core syndromes of pantothenate kinsase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified. The acknowledged clinical spectrum has broadened, age-dependent presentations have been recognized, and we are becoming aware of overlap between the different NBIA disorders as well as with other diseases. Autopsy examination of genetically confirmed cases has demonstrated Lewy bodies and/or tangles in some subforms, bridging the gap to more common neurodegenerative disorders such as Parkinson's disease. NBIA genes map into related pathways, the understanding of which is important as we move toward mechanistic therapies. Our aim in this review is to provide an overview of not only the historical developments, clinical features, investigational findings, and therapeutic results but also the genetic and molecular underpinnings of the NBIA syndromes.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country></list><tree><noCountry><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></noCountry><country name="Allemagne"><noRegion><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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