title: Adult-onset chorea and mitochondrial cytopathy.
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.
authors.affiliation: Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
authors.forename: Morgane
authors.initials: M
authors.lastname: Caer
authors.affiliation: Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
authors.forename: Karine
authors.initials: K
authors.lastname: Viala
authors.affiliation: Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
authors.forename: Richard
authors.initials: R
authors.lastname: Levy
authors.affiliation: Laboratoire de Neurophysiologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Maisonobe
authors.affiliation: Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Chochon
authors.affiliation: INSERM U523, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Lombès
authors.affiliation: Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
authors.forename: Yves
authors.initials: Y
authors.lastname: Agid
mesh_terms: D000328:Adult; D017668:Age of Onset; D001706:Biopsy; D002556:Cerebrospinal Fluid Proteins / Q000378:metabolism; D002819:Chorea / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D003072:Cognition Disorders / Q000175:diagnosis; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D018656:Muscle Fibers, Fast-Twitch / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009483:Neuropsychological Tests
chemical_list: D002556:Cerebrospinal Fluid Proteins