Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: Case study and effect of deep brain stimulation
Identifieur interne : 002973 ( Main/Exploration ); précédent : 002972; suivant : 002974Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: Case study and effect of deep brain stimulation
Auteurs : Maria Stella Aniello [Italie] ; Davide Martino [Italie] ; Vittoria Petruzzella [Italie] ; Roberto Eleopra [Italie] ; Michelangelo Mancuso [Italie] ; Rosa Dell'Aglio [Italie] ; Michele Cavallo [Italie] ; Gabriele Siciliano [Italie] ; Giovanni Defazio [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-01.
English descriptors
- KwdEn :
- Adult, Corpus Striatum (pathology), DNA, Mitochondrial (genetics), Deep Brain Stimulation (methods), Disease Progression, Dystonia (complications), Dystonia (therapy), Functional Laterality (physiology), Gene Deletion, Humans, Magnetic Resonance Imaging, Male, Mitochondrial Diseases (diagnosis), Mitochondrial Diseases (genetics), Mitochondrial Diseases (therapy), Necrosis (complications), Necrosis (pathology), Necrosis (therapy), Treatment Outcome, bilateral striatal necrosis, deep brain stimulation, dystonia, mitochondrial DNA.
- MESH :
- chemical , genetics : DNA, Mitochondrial.
- complications : Dystonia, Necrosis.
- diagnosis : Mitochondrial Diseases.
- genetics : Mitochondrial Diseases.
- methods : Deep Brain Stimulation.
- pathology : Corpus Striatum, Necrosis.
- physiology : Functional Laterality.
- therapy : Dystonia, Mitochondrial Diseases, Necrosis.
- Adult, Disease Progression, Gene Deletion, Humans, Magnetic Resonance Imaging, Male, Treatment Outcome.
Abstract
Bilateral striatal necrosis (BSN) is relatively rare and has been related to a wide array of causes, including nuclear and mitochondrial DNA mutations. We report the clinical vignette of a patient with a 37 years‐history of generalized dystonia secondary to BSN associated with multiple mitochondrial DNA deletions of undefined origin. Globus pallidus interna deep brain stimulation produced sustained benefit, with predominant improvements in disability. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21760
Affiliations:
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xml:lang="fr">Italie</country><wicri:regionArea>Department of Medical Biochemistry, Medical Biology and Medical Physics, University of Bari, Bari</wicri:regionArea><wicri:noRegion>Bari</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Biomembranes and Bioenergetics, Italian Research Council, CNR</wicri:regionArea><wicri:noRegion>CNR</wicri:noRegion></affiliation></author><author><name sortKey="Eleopra, Roberto" sort="Eleopra, Roberto" uniqKey="Eleopra R" first="Roberto" last="Eleopra">Roberto Eleopra</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Neurology Unit, Ospedale Umberto I, Venezia Mestre</wicri:regionArea><wicri:noRegion>Venezia Mestre</wicri:noRegion></affiliation></author><author><name sortKey="Mancuso, Michelangelo" sort="Mancuso, Michelangelo" uniqKey="Mancuso M" first="Michelangelo" last="Mancuso">Michelangelo Mancuso</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa</wicri:regionArea><wicri:noRegion>Pisa</wicri:noRegion></affiliation></author><author><name sortKey="Dell Aglio, Rosa" sort="Dell Aglio, Rosa" uniqKey="Dell Aglio R" first="Rosa" last="Dell'Aglio">Rosa Dell'Aglio</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Medical Biochemistry, Medical Biology and Medical Physics, University of Bari, Bari</wicri:regionArea><wicri:noRegion>Bari</wicri:noRegion></affiliation></author><author><name sortKey="Cavallo, Michele" sort="Cavallo, Michele" uniqKey="Cavallo M" first="Michele" last="Cavallo">Michele Cavallo</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Neurosurgical Unit, St. Anna Hospital, Ferrara</wicri:regionArea><wicri:noRegion>Ferrara</wicri:noRegion></affiliation></author><author><name sortKey="Siciliano, Gabriele" sort="Siciliano, Gabriele" uniqKey="Siciliano G" first="Gabriele" last="Siciliano">Gabriele Siciliano</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa</wicri:regionArea><wicri:noRegion>Pisa</wicri:noRegion></affiliation></author><author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological and Psychiatric Sciences, University of Bari, Bari</wicri:regionArea><wicri:noRegion>Bari</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="2008-01">2008-01</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="114">114</biblScope><biblScope unit="page" to="118">118</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">910146F152695495F1153443DBF23BCC7431D1B7</idno><idno type="DOI">10.1002/mds.21760</idno><idno type="ArticleID">MDS21760</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Corpus Striatum (pathology)</term><term>DNA, Mitochondrial (genetics)</term><term>Deep Brain Stimulation (methods)</term><term>Disease Progression</term><term>Dystonia (complications)</term><term>Dystonia (therapy)</term><term>Functional Laterality (physiology)</term><term>Gene Deletion</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mitochondrial Diseases (diagnosis)</term><term>Mitochondrial Diseases (genetics)</term><term>Mitochondrial Diseases (therapy)</term><term>Necrosis (complications)</term><term>Necrosis (pathology)</term><term>Necrosis (therapy)</term><term>Treatment Outcome</term><term>bilateral striatal necrosis</term><term>deep brain stimulation</term><term>dystonia</term><term>mitochondrial DNA</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA, Mitochondrial</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonia</term><term>Necrosis</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Deep Brain Stimulation</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Corpus Striatum</term><term>Necrosis</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Functional Laterality</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Dystonia</term><term>Mitochondrial Diseases</term><term>Necrosis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Disease Progression</term><term>Gene Deletion</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Treatment Outcome</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Bilateral striatal necrosis (BSN) is relatively rare and has been related to a wide array of causes, including nuclear and mitochondrial DNA mutations. We report the clinical vignette of a patient with a 37 years‐history of generalized dystonia secondary to BSN associated with multiple mitochondrial DNA deletions of undefined origin. Globus pallidus interna deep brain stimulation produced sustained benefit, with predominant improvements in disability. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country></list><tree><country name="Italie"><noRegion><name sortKey="Aniello, Maria Stella" sort="Aniello, Maria Stella" uniqKey="Aniello M" first="Maria Stella" last="Aniello">Maria Stella Aniello</name></noRegion><name sortKey="Cavallo, Michele" sort="Cavallo, Michele" uniqKey="Cavallo M" first="Michele" last="Cavallo">Michele Cavallo</name><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name><name sortKey="Dell Aglio, Rosa" sort="Dell Aglio, Rosa" uniqKey="Dell Aglio R" first="Rosa" last="Dell'Aglio">Rosa Dell'Aglio</name><name sortKey="Eleopra, Roberto" sort="Eleopra, Roberto" uniqKey="Eleopra R" first="Roberto" last="Eleopra">Roberto Eleopra</name><name sortKey="Mancuso, Michelangelo" sort="Mancuso, Michelangelo" uniqKey="Mancuso M" first="Michelangelo" last="Mancuso">Michelangelo Mancuso</name><name sortKey="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</name><name sortKey="Petruzzella, Vittoria" sort="Petruzzella, Vittoria" uniqKey="Petruzzella V" first="Vittoria" last="Petruzzella">Vittoria Petruzzella</name><name sortKey="Petruzzella, Vittoria" sort="Petruzzella, Vittoria" uniqKey="Petruzzella V" first="Vittoria" last="Petruzzella">Vittoria Petruzzella</name><name sortKey="Siciliano, Gabriele" sort="Siciliano, Gabriele" uniqKey="Siciliano G" first="Gabriele" last="Siciliano">Gabriele Siciliano</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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