Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation.

Abstract

UNLABELLED:

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 incorporation of radiolabeled 4-hydroxy[U 14C] benzoic acid by HPLC with radiometric detection.

RESULTS:

Mitochondrial respiratory chain enzyme analysis showed a decrease in complex I + III and complex II + III activities. CoQ concentration in muscle was decreased (56 nmol/g of protein: reference values: 157-488 nmol/g protein). A reduced incorporation of radiolabeled 4-hydroxy[U- 14C] benzoic acid was observed in the patient (19% of incorporation respect to the median control values). After 16 months of CoQ supplementation, the patient is now able to walk unaided and cerebellar signs have disappeared.

CONCLUSIONS:

Cerebellar ataxia associated with CoQ deficiency in our case might be allocated in the transprenylation pathway or in the metabolic steps after condensation of 4-hydroxybenzoate and the prenyl side chain of CoQ. Clinical improvement after CoQ supplementation was remarkable, supporting the importance of an early diagnosis of this kind of disorders.

• Authors: Rafael Artuch, Gloria Brea-Calvo, Paz Briones, Asunción Aracil, Marta Galván, Carmen Espinós, Jordi Corral, Victor Volpini, Antonia Ribes, Antoni L Andreu, Francesc Palau, José A Sánchez-Alcázar, Plácido Navas, Mercè Pineda
• Journal: Journal of the neurological sciences (J Neurol Sci) Vol. 246 Issue 1-2 Pg. 153-8 (Jul 15 2006) ISSN: 0022-510X [Print] Netherlands
• PMID: 16677673 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Antioxidants
• Coenzymes
• Ubiquinone
• coenzyme Q10

Topics

• Antioxidants (therapeutic use)
• Cerebellar Ataxia (diagnosis, genetics, therapy)
• Child
• Chromatography, High Pressure Liquid
• Coenzymes
• Dietary Supplements
• Electrochemistry
• Female
• Fibroblasts (pathology)
• Humans
• Immunohistochemistry
• Magnetic Resonance Imaging
• Mitochondria, Muscle (pathology)
• Muscle, Skeletal (pathology)
• Neurologic Examination
• Ubiquinone (analogs & derivatives, deficiency, genetics, therapeutic use)