Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation
R Artuch, G Brea-Calvo, P Briones, A Aracil… - Journal of the …, 2006 - Elsevier
Our aim was to report a new case with cerebellar ataxia associated with coenzyme Q10
(CoQ) deficiency, the biochemical findings caused by this deficiency and the response to
CoQ supplementation. PATIENT: A 12-year-old girl presenting ataxia and cerebellar
atrophy. BIOCHEMICAL STUDIES: Coenzyme Q10 in muscle was analysed by HPLC with
electrochemical detection and mitochondrial respiratory chain (MRC) enzyme activities by
spectrophotometric methods. CoQ biosynthesis in fibroblasts was assayed by studying the …
(CoQ) deficiency, the biochemical findings caused by this deficiency and the response to
CoQ supplementation. PATIENT: A 12-year-old girl presenting ataxia and cerebellar
atrophy. BIOCHEMICAL STUDIES: Coenzyme Q10 in muscle was analysed by HPLC with
electrochemical detection and mitochondrial respiratory chain (MRC) enzyme activities by
spectrophotometric methods. CoQ biosynthesis in fibroblasts was assayed by studying the …
