Adult‐onset chorea and mitochondrial cytopathy
Identifieur interne : 003A36 ( Main/Exploration ); précédent : 003A35; suivant : 003A37Adult‐onset chorea and mitochondrial cytopathy
Auteurs : Morgane Caer [France] ; Karine Viala [France] ; Richard Levy [France] ; Thierry Maisonobe [France] ; Florence Chochon [France] ; Agnès Lombès [France] ; Yves Agid [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-04.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Age of Onset, Biopsy, Cerebrospinal Fluid Proteins (metabolism), Chorea, Chorea (genetics), Chorea (metabolism), Chorea (pathology), Cognition Disorders (diagnosis), DNA Mutational Analysis, Female, Humans, Male, Mitochondria, Mitochondrial DNA, Mitochondrial Diseases (genetics), Mitochondrial Diseases (metabolism), Mitochondrial Diseases (pathology), Muscle Fibers, Fast-Twitch (metabolism), Muscle Fibers, Fast-Twitch (pathology), Muscle, Skeletal (metabolism), Muscle, Skeletal (pathology), Nervous system diseases, Neuropsychological Tests, chorea, mitochondrial DNA, mitochondrial cytopathy, movement disorders.
- MESH :
- chemical , metabolism : Cerebrospinal Fluid Proteins.
- diagnosis : Cognition Disorders.
- genetics : Chorea, Mitochondrial Diseases.
- metabolism : Chorea, Mitochondrial Diseases, Muscle Fibers, Fast-Twitch, Muscle, Skeletal.
- pathology : Chorea, Mitochondrial Diseases, Muscle Fibers, Fast-Twitch, Muscle, Skeletal.
- Adult, Age of Onset, Biopsy, DNA Mutational Analysis, Female, Humans, Male, Neuropsychological Tests.
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. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20363
Affiliations:
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Le document en format XML
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<term>Chorea</term>
<term>Chorea (genetics)</term>
<term>Chorea (metabolism)</term>
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<term>chorea</term>
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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. © 2004 Movement Disorder Society</div>
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