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NEUROLOGY 2007;68:295-297
© 2007 American Academy of Neurology

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

I. Le Ber, MD, O. Dubourg, MD, J. -F. Benoist, PharmD, PhD, C. Jardel, PharmD, PhD, F. Mochel, MD, M. Koenig, PhD, A. Brice, MD, A. Lombès, MD, PhD and A. Dürr, MD, PhD

From Inserm U679 (I.L.B., A.B., A.D.), AP/HP, Hôpital de La Pitié-Salpêtrière, UPMC, AP/HP (O.D., F.M., A.B., A.D.), Hôpital de La Pitié-Salpêtrière, Génétique, Cytogénétique et Embryologie, UPMC, Institut de Myologie (O.D., A.L.), Hôpital de La Pitié-Salpêtrière, AP/HP (J.-F.B.), Hôpital Robert Debré, Biochimie-Hormonologie, AP/HP (C.J.), Biochimie B, Hôpital de La Pitié-Salpêtrière, UPMC, and Inserm U582 (A.L.), Institut de Myologie, AP/HP, Hôpital de La Pitié-Salpêtrière, UPMC, Paris, and Institut de Génétique et de Biologie Moléculaire et Cellulaire (M.K.), CNRS/INSERM/Université Louis-Pasteur, Illkirch, CU de Strasbourg, France.

Address correspondence and reprint requests to Dr. A. Dürr, Inserm U679, Bâtiment Pharmacie, Hôpital de La Salpêtrière, Paris, France; e-mail: durr{at}ccr.jussieu.fr

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.

Disclosure: The authors report no conflicts of interest.

Received June 28, 2006. Accepted in final form October 16, 2006.




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