Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions
Identifieur interne : 001662 ( PascalFrancis/Corpus ); précédent : 001661; suivant : 001663Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions
Auteurs : Robert A. Wilcox ; Andrew Churchyard ; Henrik H. Dahl ; Wendy M. Hutchison ; Denise M. Kirby ; Dominic ThyagarajanSource :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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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Format Inist (serveur)
NO : | PASCAL 07-0314961 INIST |
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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:07-0314961Le document en format XML
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<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>
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