Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation
| Autor: | Antoni L. Andreu, Jordi Corral, Rafael Artuch, Mercè Pineda, Marta Galván, Plácido Navas, Gloria Brea-Calvo, Francesc Palau, Carmen Espinós, Antonia Ribes, A. Aracil, Victor Volpini, José Antonio Sánchez-Alcázar, Paz Briones |
|---|---|
| Přispěvatelé: | Ministerio de Sanidad y Consumo (España), European Commission |
| Rok vydání: | 2006 |
| Předmět: |
Mitochondrial respiratory chain
medicine.medical_specialty Ataxia Cerebellar Ataxia Ubiquinone Coenzymes Respiratory chain Mitochondrial diseases Biology Antioxidants chemistry.chemical_compound Internal medicine Electrochemistry medicine Humans Child Muscle Skeletal Cerebellar ataxia Chromatography High Pressure Liquid Neurologic Examination Coenzyme Q10 food and beverages Fibroblasts medicine.disease Immunohistochemistry Magnetic Resonance Imaging Mitochondria Muscle Treatment Endocrinology Neurology chemistry Coenzyme Q – cytochrome c reductase Dietary Supplements Female Cerebellar atrophy Neurology (clinical) Coenzyme Q10 deficiency medicine.symptom |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| ISSN: | 0022-510X |
| Popis: | 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. This study was supported by the grants Mitoespaña (G03/011), Red de Ataxias (G03/056) and PI040567 from the FIS, Ministerio de Sanidad, Spain; and by EU contract LSHB-CT-2004-005151. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect