MovDisordV3, Ncbi, Merge, bibRecord, 001B28

Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions.

Identifieur interne : 001B28 ( Ncbi/Merge ); précédent : 001B27; suivant : 001B29

Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions.

Auteurs : Robert A. Wilcox [Australie] ; Andrew Churchyard ; Henrik H. Dahl ; Wendy M. Hutchison ; Denise M. Kirby ; Dominic Thyagarajan

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17357142

English descriptors

KwdEn :
- Adult, Antiparkinson Agents (therapeutic use), Chromosome Deletion, DNA, Mitochondrial (genetics), DNA, Mitochondrial (ultrastructure), Humans, Levodopa (therapeutic use), Male, Parkinson Disease (drug therapy), Parkinson Disease (genetics), Parkinson Disease (pathology), Pharmacogenetics.
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 gamma (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.

DOI: 10.1002/mds.21416
PubMed: 17357142

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pubmed:17357142

Le document en format XML

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<author><name sortKey="Wilcox, Robert A" sort="Wilcox, Robert A" uniqKey="Wilcox R" first="Robert A" last="Wilcox">Robert A. Wilcox</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Flinders Medical Centre, SA, Australia. robert_wilcox@health.qld.gov.au</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurology, Flinders Medical Centre, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
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<author><name sortKey="Churchyard, Andrew" sort="Churchyard, Andrew" uniqKey="Churchyard A" first="Andrew" last="Churchyard">Andrew Churchyard</name>
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<author><name sortKey="Dahl, Henrik H" sort="Dahl, Henrik H" uniqKey="Dahl H" first="Henrik H" last="Dahl">Henrik H. Dahl</name>
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<author><name sortKey="Hutchison, Wendy M" sort="Hutchison, Wendy M" uniqKey="Hutchison W" first="Wendy M" last="Hutchison">Wendy M. Hutchison</name>
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<author><name sortKey="Kirby, Denise M" sort="Kirby, Denise M" uniqKey="Kirby D" first="Denise M" last="Kirby">Denise M. Kirby</name>
</author>
<author><name sortKey="Thyagarajan, Dominic" sort="Thyagarajan, Dominic" uniqKey="Thyagarajan D" first="Dominic" last="Thyagarajan">Dominic Thyagarajan</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions.</title>
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<author><name sortKey="Kirby, Denise M" sort="Kirby, Denise M" uniqKey="Kirby D" first="Denise M" last="Kirby">Denise M. Kirby</name>
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<author><name sortKey="Thyagarajan, Dominic" sort="Thyagarajan, Dominic" uniqKey="Thyagarajan D" first="Dominic" last="Thyagarajan">Dominic Thyagarajan</name>
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<term>DNA, Mitochondrial (ultrastructure)</term>
<term>Humans</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Parkinson Disease (drug therapy)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (pathology)</term>
<term>Pharmacogenetics</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA, Mitochondrial</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Parkinson Disease</term>
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<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 gamma (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.</div>
</front>
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<Issue>7</Issue>
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<Month>May</Month>
<Day>15</Day>
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</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions.</ArticleTitle>
<Pagination><MedlinePgn>1020-3</MedlinePgn>
</Pagination>
<Abstract><AbstractText>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 gamma (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.</AbstractText>
<CopyrightInformation>(c) 2007 Movement Disorder Society.</CopyrightInformation>
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<Language>eng</Language>
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<name sortKey="Hutchison, Wendy M" sort="Hutchison, Wendy M" uniqKey="Hutchison W" first="Wendy M" last="Hutchison">Wendy M. Hutchison</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions.

Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

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