ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
Identifieur interne : 002311 ( Main/Merge ); précédent : 002310; suivant : 002312ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
Auteurs : Susanne A. Schneider [Royaume-Uni, Allemagne] ; Coro Paisan-Ruiz [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-06-15.
English descriptors
- KwdEn :
- ATP13A2, Adult, Brain (metabolism), Humans, Iron (metabolism), Kufor Rakeb, Magnetic Resonance Imaging (methods), Male, Mutation (genetics), NBIA, Nerve Degeneration (etiology), Nerve Degeneration (genetics), Nerve Degeneration (pathology), PARK9, Parkinson genetics, Proton-Translocating ATPases (genetics), brain iron, dystonia parkinsonism, iron deposition, neurodegeneration with brain iron accumulation.
- MESH :
- chemical , genetics : Proton-Translocating ATPases.
- chemical , metabolism : Iron.
- etiology : Nerve Degeneration.
- genetics : Mutation, Nerve Degeneration.
- metabolism : Brain.
- methods : Magnetic Resonance Imaging.
- pathology : Nerve Degeneration.
- Adult, Humans, Male.
Abstract
Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal‐pyramidal syndrome with generalized brain atrophy due to ATP13A2 gene mutations. We report clinical details and investigational results focusing on radiological findings of a genetically‐proven KRD case. Clinically, there was early onset levodopa‐responsive dystonia‐parkinsonism with pyramidal signs and eye movement abnormalities. Brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. Our findings add KRD to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). KRD should be considered in patients with dystonia‐parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.22947
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Bhatia, Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square; London WC1N 3BG</wicri:regionArea><wicri:noRegion>Queen Square; London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square; London</wicri:regionArea><wicri:noRegion>Queen Square; London</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>John Hardy, Reta Lila Weston Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United KingdomKailash P. Bhatia, Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square; London WC1N 3BG</wicri:regionArea><wicri:noRegion>Queen Square; London WC1N 3BG</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-06-15">2010-06-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="979">979</biblScope><biblScope unit="page" to="984">984</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9433C5E0550C94E1CF2A41E50AB0466664714000</idno><idno type="DOI">10.1002/mds.22947</idno><idno type="ArticleID">MDS22947</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP13A2</term><term>Adult</term><term>Brain (metabolism)</term><term>Humans</term><term>Iron (metabolism)</term><term>Kufor Rakeb</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>Mutation (genetics)</term><term>NBIA</term><term>Nerve Degeneration (etiology)</term><term>Nerve Degeneration (genetics)</term><term>Nerve Degeneration (pathology)</term><term>PARK9</term><term>Parkinson genetics</term><term>Proton-Translocating ATPases (genetics)</term><term>brain iron</term><term>dystonia parkinsonism</term><term>iron deposition</term><term>neurodegeneration with brain iron accumulation</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proton-Translocating ATPases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Iron</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Nerve Degeneration</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Nerve Degeneration</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Nerve Degeneration</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Humans</term><term>Male</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal‐pyramidal syndrome with generalized brain atrophy due to ATP13A2 gene mutations. We report clinical details and investigational results focusing on radiological findings of a genetically‐proven KRD case. Clinically, there was early onset levodopa‐responsive dystonia‐parkinsonism with pyramidal signs and eye movement abnormalities. Brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. Our findings add KRD to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). KRD should be considered in patients with dystonia‐parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3. © 2010 Movement Disorder Society</div></front></TEI><double doi="10.1002/mds.22947"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation</title><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name></author><author><name sortKey="Paisan Uiz, Coro" sort="Paisan Uiz, Coro" uniqKey="Paisan Uiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><affiliation><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name></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">ISTEX</idno><idno type="RBID">ISTEX:9433C5E0550C94E1CF2A41E50AB0466664714000</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1002/mds.22947</idno><idno type="url">https://api.istex.fr/document/9433C5E0550C94E1CF2A41E50AB0466664714000/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002F17</idno><idno type="wicri:Area/Istex/Curation">002F17</idno><idno type="wicri:Area/Istex/Checkpoint">000B54</idno><idno type="wicri:doubleKey">0885-3185:2010:Schneider S:atp:a:mutations</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation</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"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square; London</wicri:regionArea><wicri:noRegion>Queen Square; London</wicri:noRegion></affiliation><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Paisan Uiz, Coro" sort="Paisan Uiz, Coro" uniqKey="Paisan Uiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square; London</wicri:regionArea><wicri:noRegion>Queen Square; London</wicri:noRegion></affiliation></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square; London</wicri:regionArea><wicri:noRegion>Queen Square; London</wicri:noRegion></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square; London</wicri:regionArea><wicri:noRegion>Queen Square; London</wicri:noRegion><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square; London</wicri:regionArea><wicri:noRegion>Queen Square; London</wicri:noRegion><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square; London</wicri:regionArea><wicri:noRegion>Queen Square; London</wicri:noRegion></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square; London</wicri:regionArea><wicri:noRegion>Queen Square; London</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>John Hardy, Reta Lila Weston Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United KingdomKailash P. Bhatia, Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square; London WC1N 3BG</wicri:regionArea><wicri:noRegion>Queen Square; London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square; London</wicri:regionArea><wicri:noRegion>Queen Square; London</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>John Hardy, Reta Lila Weston Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United KingdomKailash P. Bhatia, Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square; London WC1N 3BG</wicri:regionArea><wicri:noRegion>Queen Square; London WC1N 3BG</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-06-15">2010-06-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="979">979</biblScope><biblScope unit="page" to="984">984</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9433C5E0550C94E1CF2A41E50AB0466664714000</idno><idno type="DOI">10.1002/mds.22947</idno><idno type="ArticleID">MDS22947</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP13A2</term><term>Kufor Rakeb</term><term>NBIA</term><term>PARK9</term><term>Parkinson genetics</term><term>brain iron</term><term>dystonia parkinsonism</term><term>iron deposition</term><term>neurodegeneration with brain iron accumulation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal‐pyramidal syndrome with generalized brain atrophy due to ATP13A2 gene mutations. We report clinical details and investigational results focusing on radiological findings of a genetically‐proven KRD case. Clinically, there was early onset levodopa‐responsive dystonia‐parkinsonism with pyramidal signs and eye movement abnormalities. Brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. Our findings add KRD to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). KRD should be considered in patients with dystonia‐parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3. © 2010 Movement Disorder Society</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.</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="3"><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Paisan Ruiz, Coro" sort="Paisan Ruiz, Coro" uniqKey="Paisan Ruiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. Quinn</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name></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="2010">2010</date><idno type="doi">10.1002/mds.22947</idno><idno type="RBID">pubmed:20310007</idno><idno type="pmid">20310007</idno><idno type="wicri:Area/PubMed/Corpus">001882</idno><idno type="wicri:Area/PubMed/Curation">001882</idno><idno type="wicri:Area/PubMed/Checkpoint">001A66</idno><idno type="wicri:Area/Ncbi/Merge">002B20</idno><idno type="wicri:Area/Ncbi/Curation">002B20</idno><idno type="wicri:Area/Ncbi/Checkpoint">002B20</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.</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="3"><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Paisan Ruiz, Coro" sort="Paisan Ruiz, Coro" uniqKey="Paisan Ruiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. Quinn</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name></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="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Brain (metabolism)</term><term>Humans</term><term>Iron (metabolism)</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>Mutation (genetics)</term><term>Nerve Degeneration (etiology)</term><term>Nerve Degeneration (genetics)</term><term>Nerve Degeneration (pathology)</term><term>Proton-Translocating ATPases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proton-Translocating ATPases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Iron</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Nerve Degeneration</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Nerve Degeneration</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Nerve Degeneration</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal-pyramidal syndrome with generalized brain atrophy due to ATP13A2 gene mutations. We report clinical details and investigational results focusing on radiological findings of a genetically-proven KRD case. Clinically, there was early onset levodopa-responsive dystonia-parkinsonism with pyramidal signs and eye movement abnormalities. Brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. Our findings add KRD to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). KRD should be considered in patients with dystonia-parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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