Abstract
APTX gene mutations responsible for ataxia-oculomotor apraxia 1 (AOA1) were identified in a family previously reported with ataxia and coenzyme Q10 (CoQ10) deficiency. We measured muscle CoQ10 levels in six patients with AOA1 and found decreased levels in five. Patients homozygous for the W279X mutation had lower values (p = 0.003). A therapeutic trial of CoQ10 may be warranted in patients with AOA1.
MeSH terms
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Adult
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Apraxias / complications
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Apraxias / enzymology
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Apraxias / genetics*
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Ataxia / complications
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Ataxia / enzymology
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Ataxia / genetics*
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Coenzymes
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DNA-Binding Proteins / genetics
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Humans
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Male
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Middle Aged
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Mutation
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Nuclear Proteins / genetics
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Oculomotor Nerve Diseases / complications
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Oculomotor Nerve Diseases / enzymology
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Oculomotor Nerve Diseases / genetics*
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Ubiquinone / analogs & derivatives*
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Ubiquinone / deficiency
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Ubiquinone / genetics
Substances
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APTX protein, human
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Coenzymes
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DNA-Binding Proteins
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Nuclear Proteins
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Ubiquinone
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coenzyme Q10