Long‐term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase‐associated neurodegeneration
Identifieur interne : 003355 ( Main/Exploration ); précédent : 003354; suivant : 003356Long‐term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase‐associated neurodegeneration
Auteurs : Martin Krause [Allemagne] ; Wolfgang Fogel [Allemagne] ; Volker Tronnier [Allemagne] ; Sabine Pohle [Allemagne] ; Konstanze Hörtnagel [Allemagne] ; Ute Thyen [Allemagne] ; Jens Volkmann [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-12.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Deep Brain Stimulation (methods), Deep brain stimulation, Dystonia, Dystonic Disorders (metabolism), Dystonic Disorders (physiopathology), Dystonic Disorders (surgery), Hallervorden Spatz disease, Hallervorden–Spatz disease, Humans, Long term, Magnetic Resonance Imaging, Male, Nerve Degeneration (surgery), Nervous system diseases, PKAN, Pantothenate kinase, Phosphotransferases (Alcohol Group Acceptor) (metabolism), Time Factors, deep brain stimulation.
- MESH :
- chemical , metabolism : Phosphotransferases (Alcohol Group Acceptor).
- metabolism : Dystonic Disorders.
- methods : Deep Brain Stimulation.
- physiopathology : Dystonic Disorders.
- surgery : Dystonic Disorders, Nerve Degeneration.
- Adolescent, Humans, Magnetic Resonance Imaging, Male, Time Factors.
Abstract
Pantothenate kinase‐associated neurodegeneration (PKAN) is a rare autosomal recessive disorder with onset in childhood and rapid progression. There is no causative and insufficient symptomatic drug therapy. Deep brain stimulation (DBS) of the internal pallidum (GPi) has been reported to improve motor function. Most case reports, however, are limited to short observational periods. The impact of DBS on the progression and life expectancy in PKAN is unknown. We present a 5‐year outcome and video documentation of bilateral GPi‐DBS of an adolescent patient suffering from genetically defined PKAN. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21166
Affiliations:
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sortKey="Hortnagel, Konstanze" sort="Hortnagel, Konstanze" uniqKey="Hortnagel K" first="Konstanze" last="Hörtnagel">Konstanze Hörtnagel</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, GSF National Research Center for Environment and Health, Ingolstädter, Neuherberg</wicri:regionArea><wicri:noRegion>Neuherberg</wicri:noRegion><wicri:noRegion>Neuherberg</wicri:noRegion></affiliation></author><author><name sortKey="Thyen, Ute" sort="Thyen, Ute" uniqKey="Thyen U" first="Ute" last="Thyen">Ute Thyen</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Child and Adolescent Medicine, University Hospital Schleswig‐Holstein, Campus Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Volkmann, Jens" sort="Volkmann, Jens" uniqKey="Volkmann J" first="Jens" 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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="2006-12">2006-12</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="2255">2255</biblScope><biblScope unit="page" to="2257">2257</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">3C5D3E36BF80EA9C6A546EF6EE9657D9AD59E459</idno><idno type="DOI">10.1002/mds.21166</idno><idno type="ArticleID">MDS21166</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Deep Brain Stimulation (methods)</term><term>Deep brain stimulation</term><term>Dystonia</term><term>Dystonic Disorders (metabolism)</term><term>Dystonic Disorders (physiopathology)</term><term>Dystonic Disorders (surgery)</term><term>Hallervorden Spatz disease</term><term>Hallervorden–Spatz disease</term><term>Humans</term><term>Long term</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Nerve Degeneration (surgery)</term><term>Nervous system diseases</term><term>PKAN</term><term>Pantothenate kinase</term><term>Phosphotransferases (Alcohol Group Acceptor) (metabolism)</term><term>Time Factors</term><term>deep brain stimulation</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Phosphotransferases (Alcohol Group Acceptor)</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Deep Brain Stimulation</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="surgery" xml:lang="en"><term>Dystonic Disorders</term><term>Nerve Degeneration</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Time Factors</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Dégénérescence globus pallidus Hallervorden Spatz</term><term>Long terme</term><term>Pantothenate kinase</term><term>Stimulation cérébrale profonde</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Pantothenate kinase‐associated neurodegeneration (PKAN) is a rare autosomal recessive disorder with onset in childhood and rapid progression. There is no causative and insufficient symptomatic drug therapy. Deep brain stimulation (DBS) of the internal pallidum (GPi) has been reported to improve motor function. Most case reports, however, are limited to short observational periods. The impact of DBS on the progression and life expectancy in PKAN is unknown. We present a 5‐year outcome and video documentation of bilateral GPi‐DBS of an adolescent patient suffering from genetically defined PKAN. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bade-Wurtemberg</li><li>District de Karlsruhe</li><li>Schleswig-Holstein</li></region><settlement><li>Heidelberg</li><li>Kiel</li></settlement></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Krause, Martin" sort="Krause, Martin" uniqKey="Krause M" first="Martin" last="Krause">Martin Krause</name></region><name sortKey="Fogel, Wolfgang" sort="Fogel, Wolfgang" uniqKey="Fogel W" first="Wolfgang" last="Fogel">Wolfgang Fogel</name><name sortKey="Hortnagel, Konstanze" sort="Hortnagel, Konstanze" uniqKey="Hortnagel K" first="Konstanze" last="Hörtnagel">Konstanze Hörtnagel</name><name sortKey="Pohle, Sabine" sort="Pohle, Sabine" uniqKey="Pohle S" first="Sabine" last="Pohle">Sabine Pohle</name><name sortKey="Thyen, Ute" sort="Thyen, Ute" uniqKey="Thyen U" first="Ute" last="Thyen">Ute Thyen</name><name sortKey="Tronnier, Volker" sort="Tronnier, Volker" uniqKey="Tronnier V" first="Volker" last="Tronnier">Volker Tronnier</name><name sortKey="Volkmann, Jens" sort="Volkmann, Jens" uniqKey="Volkmann J" first="Jens" last="Volkmann">Jens Volkmann</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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