Adult-onset chorea and mitochondrial cytopathy.
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.
Caer
Morgane
M
Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
Viala
Karine
K
Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
Levy
Richard
R
Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
Maisonobe
Thierry
T
Laboratoire de Neurophysiologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
Chochon
Florence
F
Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
Lombès
Agnès
A
INSERM U523, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
Agid
Yves
Y
Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.
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
D002556:Cerebrospinal Fluid Proteins