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.
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Authors | I Le Ber, O Dubourg, J-F Benoist, C Jardel, F Mochel, M Koenig, A Brice, A Lombès, A Dürr |
Journal | Neurology
(Neurology)
Vol. 68
Issue 4
Pg. 295-7
(Jan 23 2007)
ISSN: 1526-632X [Electronic] United States |
PMID | 17242337
(Publication Type: Journal Article)
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Chemical References |
- APTX protein, human
- Coenzymes
- DNA-Binding Proteins
- Nuclear Proteins
- Ubiquinone
- coenzyme Q10
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Topics |
- Adult
- Apraxias
(complications, enzymology, genetics)
- Ataxia
(complications, enzymology, genetics)
- Coenzymes
- DNA-Binding Proteins
(genetics)
- Humans
- Male
- Middle Aged
- Mutation
- Nuclear Proteins
(genetics)
- Oculomotor Nerve Diseases
(complications, enzymology, genetics)
- Ubiquinone
(analogs & derivatives, deficiency, genetics)
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