MovDisordV3, PascalFrancis, Curation, bibRecord, 000E19

Adult-onset chorea and mitochondrial cytopathy

Identifieur interne : 000E19 ( PascalFrancis/Curation ); précédent : 000E18; suivant : 000E20

Adult-onset chorea and mitochondrial cytopathy

Auteurs : Morgane Caer [France] ; Karine Viala [France] ; Richard Levy [France] ; Thierry Maisonobe [France] ; Florence Chochon [France] ; Agnès Lombes [France] ; Yves Agid [France]

Source :

Movement disorders [ 0885-3185 ] ; 2005.

RBID : Pascal:05-0262072

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Mitochondrie, DNA mitochondrial, Chorée syndrome.

English descriptors

KwdEn :
- Chorea, Mitochondria, Mitochondrial DNA, Nervous system diseases.

Abstract

We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase-negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known.

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A06				`@2 4`
A08	`01`	`1`	`ENG`	`@1 Adult-onset chorea and mitochondrial cytopathy`
A11	`01`	`1`		`@1 CAER (Morgane)`
A11	`02`	`1`		`@1 VIALA (Karine)`
A11	`03`	`1`		`@1 LEVY (Richard)`
A11	`04`	`1`		`@1 MAISONOBE (Thierry)`
A11	`05`	`1`		`@1 CHOCHON (Florence)`
A11	`06`	`1`		`@1 LOMBES (Agnès)`
A11	`07`	`1`		`@1 AGID (Yves)`
A14	`01`			`@1 Fédération de Neurologie, Groupe hospitalier de la Pitié- Salpétrière @2 Paris @3 FRA @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 5 aut. @Z 7 aut.`
A14	`02`			`@1 Laboratoire de Neurophysiologie, Groupe hospitalier de la Pitié-Salpétrière @2 Paris @3 FRA @Z 4 aut.`
A14	`03`			`@1 INSERM U523, Groupe hospitalier de la Pitié-Salpétrière @2 Paris @3 FRA @Z 6 aut.`
A20				`@1 490-492`
A21				`@1 2005`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000124582390150`
A44				`@0 0000 @1 © 2005 INIST-CNRS. All rights reserved.`
A45				`@0 13 ref.`
A47	`01`	`1`		`@0 05-0262072`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase-negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Mitochondrie @5 02`
C03	`02`	`X`	`ENG`	`@0 Mitochondria @5 02`
C03	`02`	`X`	`SPA`	`@0 Mitocondria @5 02`
C03	`03`	`X`	`FRE`	`@0 DNA mitochondrial @5 03`
C03	`03`	`X`	`ENG`	`@0 Mitochondrial DNA @5 03`
C03	`03`	`X`	`SPA`	`@0 DNA mitocondrial @5 03`
C03	`04`	`X`	`FRE`	`@0 Chorée syndrome @5 04`
C03	`04`	`X`	`ENG`	`@0 Chorea @5 04`
C03	`04`	`X`	`SPA`	`@0 Corea síndrome @5 04`
C07	`01`	`X`	`FRE`	`@0 Encéphale pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Mouvement involontaire @5 39`
C07	`03`	`X`	`ENG`	`@0 Involuntary movement @5 39`
C07	`03`	`X`	`SPA`	`@0 Movimiento involuntario @5 39`
C07	`04`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Trouble neurologique @5 41`
C07	`05`	`X`	`ENG`	`@0 Neurological disorder @5 41`
C07	`05`	`X`	`SPA`	`@0 Trastorno neurológico @5 41`
N21				`@1 185`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:05-0262072

Le document en format XML

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<author><name sortKey="Caer, Morgane" sort="Caer, Morgane" uniqKey="Caer M" first="Morgane" last="Caer">Morgane Caer</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Adult-onset chorea and mitochondrial cytopathy</title>
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<front><div type="abstract" xml:lang="en">We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase-negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known.</div>
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<fC01 i1="01" l="ENG"><s0>We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase-negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known.</s0>
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   |clé=     Pascal:05-0262072
   |texte=   Adult-onset chorea and mitochondrial cytopathy
}}

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	Movement Disorders (revue)
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Movement Disorders (revue)

Adult-onset chorea and mitochondrial cytopathy

Adult-onset chorea and mitochondrial cytopathy

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