Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the Parkin gene
Identifieur interne : 003D77 ( Main/Exploration ); précédent : 003D76; suivant : 003D78Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the Parkin gene
Auteurs : Marianna Capecci [Italie] ; Luca Passamonti [Italie] ; Ferdinanda Annesi [Italie] ; Grazia Annesi [Italie] ; Michele Bellesi [Italie] ; Innocenza Claudia Cir Candiano [Italie] ; Riccardo Ricciuti [Italie] ; Maurizio Iacoangeli [Italie] ; Massimo Scerrati [Italie] ; Mario Zappia [Italie] ; Patrizia Tarantino [Italie] ; Elvira Valeria De Marco [Italie] ; Donatella Civitelli [Italie] ; Sara Carrideo [Italie] ; Leandro Provinciali [Italie] ; Maria Gabriella Ceravolo [Italie] ; Aldo Quattrone [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-12.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Antiparkinson Agents (administration & dosage), Antiparkinson Agents (adverse effects), Chronic, Deep Brain Stimulation (methods), Deep brain stimulation, Deletion, Disability Evaluation, Dose-Response Relationship, Drug, Dyskinesia, Drug-Induced (etiology), Exons (genetics), Female, Gene Deletion, Genomic Imprinting, Homozygosity, Homozygote, Human, Humans, Levodopa (administration & dosage), Levodopa (adverse effects), Male, Nervous system diseases, Parkin, Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Parkinsonian Disorders (therapy), Polymerase Chain Reaction, Severity of Illness Index, Subthalamic Nucleus, Ubiquitin-Protein Ligases (genetics), deep brain subthalamic nucleus stimulation, parkin gene, parkinsonism.
- MESH :
- chemical , administration & dosage : Antiparkinson Agents, Levodopa.
- chemical , adverse effects : Antiparkinson Agents, Levodopa.
- drug therapy : Parkinsonian Disorders.
- etiology : Dyskinesia, Drug-Induced.
- genetics : Exons, Parkinsonian Disorders, Ubiquitin-Protein Ligases.
- methods : Deep Brain Stimulation.
- therapy : Parkinsonian Disorders.
- Disability Evaluation, Dose-Response Relationship, Drug, Female, Gene Deletion, Genomic Imprinting, Homozygote, Humans, Male, Polymerase Chain Reaction, Severity of Illness Index, Subthalamic Nucleus.
Abstract
Chronic subthalamic nucleus deep brain stimulation (STN‐DBS) is an efficacious treatment for idiopathic Parkinson's disease (PD) that cannot be further improved by medical therapy. We present a case of an individual with juvenile parkinsonism caused by homozygous deletion of exon 3 in the parkin gene with disabling long‐term side‐effects from levodopa who underwent bilateral STN neuromodulation. Parkin‐linked parkinsonism may show clinical features different from sporadic PD, yet it shares levodopa responsiveness. Because levodopa responsiveness is a predictor of STN‐DBS efficacy, we argued that this kind of surgical approach might be efficacious in hereditary parkin‐linked juvenile parkinsonism. We evaluated clinical and functional assessment before and 12 months after surgery. The results showed that the Unified Parkinson Disease Rating Scales Motor score improved by 84% in our patient, the levodopa equivalent daily dose medication (LEDD) was reduced by 66%, and, finally, disabling and severe dyskinesias disappeared. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20250
Affiliations:
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Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Neurologia, Università della Magna Graecia, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation></author><author><name sortKey="Tarantino, Patrizia" sort="Tarantino, Patrizia" uniqKey="Tarantino P" first="Patrizia" last="Tarantino">Patrizia Tarantino</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Scienze Neurologiche, Consiglio Nazionale delle Ricerche, Piano Lago di Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="De Marco, Elvira Valeria" sort="De Marco, Elvira Valeria" uniqKey="De Marco E" first="Elvira Valeria" last="De Marco">Elvira Valeria De Marco</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Scienze Neurologiche, Consiglio Nazionale delle Ricerche, Piano Lago di Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Civitelli, Donatella" sort="Civitelli, Donatella" uniqKey="Civitelli D" first="Donatella" last="Civitelli">Donatella Civitelli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Scienze Neurologiche, Consiglio Nazionale delle Ricerche, Piano Lago di Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Scienze Neurologiche, Consiglio Nazionale delle Ricerche, Piano Lago di Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Provinciali, Leandro" sort="Provinciali, Leandro" uniqKey="Provinciali L" first="Leandro" last="Provinciali">Leandro Provinciali</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze Neurologiche, Università Politecnica delle Marche, Ospedale Regionale “Torrette”, Ancona</wicri:regionArea><wicri:noRegion>Ancona</wicri:noRegion></affiliation></author><author><name sortKey="Ceravolo, Maria Gabriella" sort="Ceravolo, Maria Gabriella" uniqKey="Ceravolo M" first="Maria Gabriella" last="Ceravolo">Maria Gabriella Ceravolo</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze Neurologiche, Università Politecnica delle Marche, Ospedale Regionale “Torrette”, Ancona</wicri:regionArea><wicri:noRegion>Ancona</wicri:noRegion></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Scienze Neurologiche, Consiglio Nazionale delle Ricerche, Piano Lago di Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Neurologia, Università della Magna Graecia, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</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="2004-12">2004-12</date><biblScope unit="vol">19</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1450">1450</biblScope><biblScope unit="page" to="1452">1452</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">5D6A50058674067887EFE193AA5B8D43C8BB4A22</idno><idno type="DOI">10.1002/mds.20250</idno><idno type="ArticleID">MDS20250</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Antiparkinson Agents (administration & dosage)</term><term>Antiparkinson Agents (adverse effects)</term><term>Chronic</term><term>Deep Brain Stimulation (methods)</term><term>Deep brain stimulation</term><term>Deletion</term><term>Disability Evaluation</term><term>Dose-Response Relationship, Drug</term><term>Dyskinesia, Drug-Induced (etiology)</term><term>Exons (genetics)</term><term>Female</term><term>Gene Deletion</term><term>Genomic Imprinting</term><term>Homozygosity</term><term>Homozygote</term><term>Human</term><term>Humans</term><term>Levodopa (administration & dosage)</term><term>Levodopa (adverse effects)</term><term>Male</term><term>Nervous system diseases</term><term>Parkin</term><term>Parkinsonian Disorders (drug therapy)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonian Disorders (therapy)</term><term>Polymerase Chain Reaction</term><term>Severity of Illness Index</term><term>Subthalamic Nucleus</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>deep brain subthalamic nucleus stimulation</term><term>parkin gene</term><term>parkinsonism</term></keywords><keywords scheme="MESH" type="chemical" qualifier="administration & dosage" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dyskinesia, Drug-Induced</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Parkinsonian Disorders</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Deep Brain Stimulation</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Disability Evaluation</term><term>Dose-Response Relationship, Drug</term><term>Female</term><term>Gene Deletion</term><term>Genomic Imprinting</term><term>Homozygote</term><term>Humans</term><term>Male</term><term>Polymerase Chain Reaction</term><term>Severity of Illness Index</term><term>Subthalamic Nucleus</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Chronique</term><term>Délétion</term><term>Homme</term><term>Homozygotie</term><term>Parkine</term><term>Stimulation cérébrale profonde</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Chronic subthalamic nucleus deep brain stimulation (STN‐DBS) is an efficacious treatment for idiopathic Parkinson's disease (PD) that cannot be further improved by medical therapy. We present a case of an individual with juvenile parkinsonism caused by homozygous deletion of exon 3 in the parkin gene with disabling long‐term side‐effects from levodopa who underwent bilateral STN neuromodulation. Parkin‐linked parkinsonism may show clinical features different from sporadic PD, yet it shares levodopa responsiveness. Because levodopa responsiveness is a predictor of STN‐DBS efficacy, we argued that this kind of surgical approach might be efficacious in hereditary parkin‐linked juvenile parkinsonism. We evaluated clinical and functional assessment before and 12 months after surgery. The results showed that the Unified Parkinson Disease Rating Scales Motor score improved by 84% in our patient, the levodopa equivalent daily dose medication (LEDD) was reduced by 66%, and, finally, disabling and severe dyskinesias disappeared. © 2004 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country></list><tree><country name="Italie"><noRegion><name sortKey="Capecci, Marianna" sort="Capecci, Marianna" uniqKey="Capecci M" first="Marianna" last="Capecci">Marianna Capecci</name></noRegion><name sortKey="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</name><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><name sortKey="Bellesi, Michele" sort="Bellesi, Michele" uniqKey="Bellesi M" first="Michele" last="Bellesi">Michele Bellesi</name><name sortKey="Candiano, Innocenza Claudia Cir" sort="Candiano, Innocenza Claudia Cir" uniqKey="Candiano I" first="Innocenza Claudia Cir" last="Candiano">Innocenza Claudia Cir Candiano</name><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name><name sortKey="Ceravolo, Maria Gabriella" sort="Ceravolo, Maria Gabriella" uniqKey="Ceravolo M" first="Maria Gabriella" last="Ceravolo">Maria Gabriella Ceravolo</name><name sortKey="Civitelli, Donatella" sort="Civitelli, Donatella" uniqKey="Civitelli D" first="Donatella" last="Civitelli">Donatella Civitelli</name><name sortKey="De Marco, Elvira Valeria" sort="De Marco, Elvira Valeria" uniqKey="De Marco E" first="Elvira Valeria" last="De Marco">Elvira Valeria De Marco</name><name sortKey="Iacoangeli, Maurizio" sort="Iacoangeli, Maurizio" uniqKey="Iacoangeli M" first="Maurizio" last="Iacoangeli">Maurizio Iacoangeli</name><name sortKey="Passamonti, Luca" sort="Passamonti, Luca" uniqKey="Passamonti L" first="Luca" last="Passamonti">Luca Passamonti</name><name sortKey="Provinciali, Leandro" sort="Provinciali, Leandro" uniqKey="Provinciali L" first="Leandro" last="Provinciali">Leandro Provinciali</name><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><name sortKey="Ricciuti, Riccardo" sort="Ricciuti, Riccardo" uniqKey="Ricciuti R" first="Riccardo" last="Ricciuti">Riccardo Ricciuti</name><name sortKey="Scerrati, Massimo" sort="Scerrati, Massimo" uniqKey="Scerrati M" first="Massimo" last="Scerrati">Massimo Scerrati</name><name sortKey="Tarantino, Patrizia" sort="Tarantino, Patrizia" uniqKey="Tarantino P" first="Patrizia" last="Tarantino">Patrizia Tarantino</name><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|étape= Exploration
|type= RBID
|clé= ISTEX:5D6A50058674067887EFE193AA5B8D43C8BB4A22
|texte= Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the Parkin gene
}}
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