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Adult‐onset chorea and mitochondrial cytopathy
Author(s) -
Caer Morgane,
Viala Karine,
Levy Richard,
Maisonobe Thierry,
Chochon Florence,
Lombès Agnès,
Agid Yves
Publication year - 2005
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20363
Subject(s) - chorea , mitochondrial myopathy , mitochondrial dna , mitochondrial respiratory chain , myopathy , medicine , muscle biopsy , peripheral neuropathy , mitochondrial disease , respiratory chain , pathology , mitochondrion , endocrinology , biopsy , biology , genetics , diabetes mellitus , disease , gene
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