Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions
Identifieur interne : 002D76 ( Main/Exploration ); précédent : 002D75; suivant : 002D77Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions
Auteurs : Robert A. Wilcox [Australie] ; Andrew Churchyard [Australie] ; Henrik H. Dahl [Australie] ; Wendy M. Hutchison [Australie] ; Denise M. Kirby [Australie] ; Dominic Thyagarajan [Australie]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-05-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Antiparkinson Agents (therapeutic use), Chromosome Deletion, Chronic, DNA, Mitochondrial (genetics), DNA, Mitochondrial (ultrastructure), Deletion, Humans, Levodopa, Levodopa (therapeutic use), Male, Mitochondrial DNA, Mitochondrial disorder, Nervous system diseases, Neuropathy, Ophthalmoplegia, Parkinson Disease (drug therapy), Parkinson Disease (genetics), Parkinson Disease (pathology), Parkinson disease, Parkinson's disease, Parkinsonism, Pharmacogenetics, chronic progressive external ophthalmoplegia, mitochondrial disease, neuropathy, parkinsonism.
- MESH :
- chemical , genetics : DNA, Mitochondrial.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- chemical , ultrastructure : DNA, Mitochondrial.
- drug therapy : Parkinson Disease.
- genetics : Parkinson Disease.
- pathology : Parkinson Disease.
- Adult, Chromosome Deletion, Humans, Male, Pharmacogenetics.
Abstract
We report a patient with an autosomal dominant chronic progressive external ophthalmoplegia phenotype associated with multiple mtDNA deletions in muscle from a family in which linkage analysis excluded mutations in DNA polymerase γ (POLG), adenine nucleotide translocase (ANT‐1) or C10orf2 (Twinkle). She presented with prominent Parkinsonism characterized by prolonged benefit from levodopa (L‐dopa) and the later development of L‐dopa induced dyskinesias and motor fluctuations. Thus L‐dopa responsiveness, L‐dopa induced dyskinesias and motor fluctuations may also occur in atypical Parkinsonism of mitochondrial disease, just as they may in multiple system atrophy. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21416
Affiliations:
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Le document en format XML
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Wilcox</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Flinders Medical Centre, SA</wicri:regionArea><wicri:noRegion>SA</wicri:noRegion></affiliation></author><author><name sortKey="Churchyard, Andrew" sort="Churchyard, Andrew" uniqKey="Churchyard A" first="Andrew" last="Churchyard">Andrew Churchyard</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Cabini Medical Centre, Malvern, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Dahl, Henrik H" sort="Dahl, Henrik H" uniqKey="Dahl H" first="Henrik H." last="Dahl">Henrik H. Dahl</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, The Murdoch Childrens Research Institute and University of Melbourne, Royal Children's Hospital, Parkville, Melbourne</wicri:regionArea><wicri:noRegion>Melbourne</wicri:noRegion></affiliation></author><author><name sortKey="Hutchison, Wendy M" sort="Hutchison, Wendy M" uniqKey="Hutchison W" first="Wendy M." last="Hutchison">Wendy M. Hutchison</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, The Murdoch Childrens Research Institute and University of Melbourne, Royal Children's Hospital, Parkville, Melbourne</wicri:regionArea><wicri:noRegion>Melbourne</wicri:noRegion></affiliation></author><author><name sortKey="Kirby, Denise M" sort="Kirby, Denise M" uniqKey="Kirby D" first="Denise M." last="Kirby">Denise M. Kirby</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, The Murdoch Childrens Research Institute and University of Melbourne, Royal Children's Hospital, Parkville, Melbourne</wicri:regionArea><wicri:noRegion>Melbourne</wicri:noRegion></affiliation></author><author><name sortKey="Thyagarajan, Dominic" sort="Thyagarajan, Dominic" uniqKey="Thyagarajan D" first="Dominic" last="Thyagarajan">Dominic Thyagarajan</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Flinders Medical Centre, SA</wicri:regionArea><wicri:noRegion>SA</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="2007-05-15">2007-05-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1020">1020</biblScope><biblScope unit="page" to="1023">1023</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">BF7AB87EE5184277560D0A4B539369E92A79EEDD</idno><idno type="DOI">10.1002/mds.21416</idno><idno type="ArticleID">MDS21416</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Antiparkinson Agents (therapeutic use)</term><term>Chromosome Deletion</term><term>Chronic</term><term>DNA, Mitochondrial (genetics)</term><term>DNA, Mitochondrial (ultrastructure)</term><term>Deletion</term><term>Humans</term><term>Levodopa</term><term>Levodopa (therapeutic use)</term><term>Male</term><term>Mitochondrial DNA</term><term>Mitochondrial disorder</term><term>Nervous system diseases</term><term>Neuropathy</term><term>Ophthalmoplegia</term><term>Parkinson Disease (drug therapy)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Parkinsonism</term><term>Pharmacogenetics</term><term>chronic progressive external ophthalmoplegia</term><term>mitochondrial disease</term><term>neuropathy</term><term>parkinsonism</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA, Mitochondrial</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" type="chemical" qualifier="ultrastructure" xml:lang="en"><term>DNA, Mitochondrial</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Chromosome Deletion</term><term>Humans</term><term>Male</term><term>Pharmacogenetics</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Chronique</term><term>Cytopathie mitochondriale</term><term>DNA mitochondrial</term><term>Délétion</term><term>Lévodopa</term><term>Neuropathie</term><term>Ophtalmoplégie</term><term>Parkinson maladie</term><term>Parkinsonisme</term><term>Réponse multiple</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report a patient with an autosomal dominant chronic progressive external ophthalmoplegia phenotype associated with multiple mtDNA deletions in muscle from a family in which linkage analysis excluded mutations in DNA polymerase γ (POLG), adenine nucleotide translocase (ANT‐1) or C10orf2 (Twinkle). She presented with prominent Parkinsonism characterized by prolonged benefit from levodopa (L‐dopa) and the later development of L‐dopa induced dyskinesias and motor fluctuations. Thus L‐dopa responsiveness, L‐dopa induced dyskinesias and motor fluctuations may also occur in atypical Parkinsonism of mitochondrial disease, just as they may in multiple system atrophy. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Australie</li></country></list><tree><country name="Australie"><noRegion><name sortKey="Wilcox, Robert A" sort="Wilcox, Robert A" uniqKey="Wilcox R" first="Robert A." last="Wilcox">Robert A. Wilcox</name></noRegion><name sortKey="Churchyard, Andrew" sort="Churchyard, Andrew" uniqKey="Churchyard A" first="Andrew" last="Churchyard">Andrew Churchyard</name><name sortKey="Dahl, Henrik H" sort="Dahl, Henrik H" uniqKey="Dahl H" first="Henrik H." last="Dahl">Henrik H. Dahl</name><name sortKey="Hutchison, Wendy M" sort="Hutchison, Wendy M" uniqKey="Hutchison W" first="Wendy M." last="Hutchison">Wendy M. Hutchison</name><name sortKey="Kirby, Denise M" sort="Kirby, Denise M" uniqKey="Kirby D" first="Denise M." last="Kirby">Denise M. Kirby</name><name sortKey="Thyagarajan, Dominic" sort="Thyagarajan, Dominic" uniqKey="Thyagarajan D" first="Dominic" last="Thyagarajan">Dominic Thyagarajan</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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