MovDisordV3, PascalFrancis, Corpus, bibRecord, 001662

Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions

Identifieur interne : 001662 ( PascalFrancis/Corpus ); précédent : 001661; suivant : 001663

Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions

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

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0314961

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinsonisme, Délétion, Cytopathie mitochondriale, Parkinson maladie, Ophtalmoplégie, Lévodopa, DNA mitochondrial, Chronique, Neuropathie, Réponse multiple.

English descriptors

KwdEn :
- Chronic, Deletion, Levodopa, Mitochondrial DNA, Mitochondrial disorder, Nervous system diseases, Neuropathy, Ophthalmoplegia, Parkinson disease, Parkinsonism.

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 (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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`03`	`1`		`@1 DAHL (Henrik H.)`
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A14	`03`			`@1 Department of Paediatrics, The Murdoch Childrens Research Institute and University of Melbourne, Royal Children's Hospital @2 Parkville, Melbourne @3 AUS @Z 3 aut. @Z 4 aut. @Z 5 aut.`
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C01	`01`		`ENG`	@0 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 (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.
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Format Inist (serveur)

NO :	PASCAL 07-0314961 INIST
ET :	Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions
AU :	WILCOX (Robert A.); CHURCHYARD (Andrew); DAHL (Henrik H.); HUTCHISON (Wendy M.); KIRBY (Denise M.); THYAGARAJAN (Dominic)
AF :	Department of Neurology, Flinders Medical Centre/SA/Australie (1 aut., 6 aut.); Cabini Medical Centre/Malvern, Victoria/Australie (2 aut.); Department of Paediatrics, The Murdoch Childrens Research Institute and University of Melbourne, Royal Children's Hospital/Parkville, Melbourne/Australie (3 aut., 4 aut., 5 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 7; Pp. 1020-1023; Bibl. 13 ref.
LA :	Anglais
EA :	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 (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.
CC :	002B17; 002B17F; 002B17G
FD :	Système nerveux pathologie; Parkinsonisme; Délétion; Cytopathie mitochondriale; Parkinson maladie; Ophtalmoplégie; Lévodopa; DNA mitochondrial; Chronique; Neuropathie; Réponse multiple
FG :	Enzymopathie; Maladie héréditaire; Métabolisme pathologie; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie; Oculomotricité syndrome; Oeil pathologie
ED :	Nervous system diseases; Parkinsonism; Deletion; Mitochondrial disorder; Parkinson disease; Ophthalmoplegia; Levodopa; Mitochondrial DNA; Chronic; Neuropathy
EG :	Enzymopathy; Genetic disease; Metabolic diseases; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Oculomotor syndrome; Eye disease
SD :	Sistema nervioso patología; Parkinson síndrome; Deleción; Citopatía mitocondrial; Parkinson enfermedad; Oftalmoplejía; Levodopa; DNA mitocondrial; Crónico; Neuropatía
LO :	INIST-20953.354000149881420190
ID :	07-0314961

Links to Exploration step

Pascal:07-0314961

Le document en format XML

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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 (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>
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<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Délétion</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Deletion</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Deleción</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Cytopathie mitochondriale</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Mitochondrial disorder</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Citopatía mitocondrial</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Parkinson maladie</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Ophtalmoplégie</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Ophthalmoplegia</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Oftalmoplejía</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Lévodopa</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Levodopa</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Levodopa</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>09</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>DNA mitochondrial</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Mitochondrial DNA</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>DNA mitocondrial</s0>
<s5>10</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Chronique</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Chronic</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Crónico</s0>
<s5>11</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Neuropathie</s0>
<s5>12</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Neuropathy</s0>
<s5>12</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Neuropatía</s0>
<s5>12</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Réponse multiple</s0>
<s4>INC</s4>
<s5>86</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Enzymopathie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Enzymopathy</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Enzimopatía</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Métabolisme pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Metabolic diseases</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Metabolismo patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>43</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Oculomotricité syndrome</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Oculomotor syndrome</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Oculomotricidad síndrome</s0>
<s5>44</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Oeil pathologie</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Eye disease</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Ojo patología</s0>
<s5>45</s5>
</fC07>
<fN21><s1>204</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 07-0314961 INIST</NO>
<ET>Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions</ET>
<AU>WILCOX (Robert A.); CHURCHYARD (Andrew); DAHL (Henrik H.); HUTCHISON (Wendy M.); KIRBY (Denise M.); THYAGARAJAN (Dominic)</AU>
<AF>Department of Neurology, Flinders Medical Centre/SA/Australie (1 aut., 6 aut.); Cabini Medical Centre/Malvern, Victoria/Australie (2 aut.); Department of Paediatrics, The Murdoch Childrens Research Institute and University of Melbourne, Royal Children's Hospital/Parkville, Melbourne/Australie (3 aut., 4 aut., 5 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 7; Pp. 1020-1023; Bibl. 13 ref.</SO>
<LA>Anglais</LA>
<EA>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 (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.</EA>
<CC>002B17; 002B17F; 002B17G</CC>
<FD>Système nerveux pathologie; Parkinsonisme; Délétion; Cytopathie mitochondriale; Parkinson maladie; Ophtalmoplégie; Lévodopa; DNA mitochondrial; Chronique; Neuropathie; Réponse multiple</FD>
<FG>Enzymopathie; Maladie héréditaire; Métabolisme pathologie; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie; Oculomotricité syndrome; Oeil pathologie</FG>
<ED>Nervous system diseases; Parkinsonism; Deletion; Mitochondrial disorder; Parkinson disease; Ophthalmoplegia; Levodopa; Mitochondrial DNA; Chronic; Neuropathy</ED>
<EG>Enzymopathy; Genetic disease; Metabolic diseases; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Oculomotor syndrome; Eye disease</EG>
<SD>Sistema nervioso patología; Parkinson síndrome; Deleción; Citopatía mitocondrial; Parkinson enfermedad; Oftalmoplejía; Levodopa; DNA mitocondrial; Crónico; Neuropatía</SD>
<LO>INIST-20953.354000149881420190</LO>
<ID>07-0314961</ID>
</server>
</inist>
</record>

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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

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