Progression despite replacement of a myopathic form of coenzyme Q10 defect

K Aure, JF Benoist, HO De Baulny, NB Romero… - Neurology, 2004 - AAN Enterprises
K Aure, JF Benoist, HO De Baulny, NB Romero, O Rigal, A Lombes
Neurology, 2004AAN Enterprises
The authors report 7 years of follow-up evaluation of a patient with coenzyme Q10 (CoQ10)
deficiency. Initial symptoms of exercise intolerance and hyperlactatemia improved markedly
with substitutive treatment. However, CoQ10 supplementation did not prevent the onset of a
cerebellar syndrome. A switch to idebenone treatment resulted in clinical and metabolic
worsening, which disappeared with subsequent CoQ10 treatment. CoQ10 defects may
cause progressive neurologic disease despite supplementation.
The authors report 7 years of follow-up evaluation of a patient with coenzyme Q10 (CoQ10) deficiency. Initial symptoms of exercise intolerance and hyperlactatemia improved markedly with substitutive treatment. However, CoQ10 supplementation did not prevent the onset of a cerebellar syndrome. A switch to idebenone treatment resulted in clinical and metabolic worsening, which disappeared with subsequent CoQ10 treatment. CoQ10 defects may cause progressive neurologic disease despite supplementation.
American Academy of Neurology