MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001F44

Adult-onset chorea and mitochondrial cytopathy

Identifieur interne : 001F44 ( PascalFrancis/Checkpoint ); précédent : 001F43; suivant : 001F45

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.

Affiliations:

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Pascal:05-0262072

Le document en format XML

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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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	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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