Tags

Type your tag names separated by a space and hit enter

Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation.
J Neurol Sci. 2006 Jul 15; 246(1-2):153-8.JN

Abstract

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+Show Affiliations

Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain. rartuch@hsjdbcn.orgNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16677673

Citation

Artuch, Rafael, et al. "Cerebellar Ataxia With Coenzyme Q10 Deficiency: Diagnosis and Follow-up After Coenzyme Q10 Supplementation." Journal of the Neurological Sciences, vol. 246, no. 1-2, 2006, pp. 153-8.
Artuch R, Brea-Calvo G, Briones P, et al. Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. J Neurol Sci. 2006;246(1-2):153-8.
Artuch, R., Brea-Calvo, G., Briones, P., Aracil, A., Galván, M., Espinós, C., Corral, J., Volpini, V., Ribes, A., Andreu, A. L., Palau, F., Sánchez-Alcázar, J. A., Navas, P., & Pineda, M. (2006). Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. Journal of the Neurological Sciences, 246(1-2), 153-8.
Artuch R, et al. Cerebellar Ataxia With Coenzyme Q10 Deficiency: Diagnosis and Follow-up After Coenzyme Q10 Supplementation. J Neurol Sci. 2006 Jul 15;246(1-2):153-8. PubMed PMID: 16677673.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. AU - Artuch,Rafael, AU - Brea-Calvo,Gloria, AU - Briones,Paz, AU - Aracil,Asunción, AU - Galván,Marta, AU - Espinós,Carmen, AU - Corral,Jordi, AU - Volpini,Victor, AU - Ribes,Antonia, AU - Andreu,Antoni L, AU - Palau,Francesc, AU - Sánchez-Alcázar,José A, AU - Navas,Plácido, AU - Pineda,Mercè, Y1 - 2006/05/03/ PY - 2005/10/14/received PY - 2006/01/06/revised PY - 2006/01/09/accepted PY - 2006/5/9/pubmed PY - 2006/8/11/medline PY - 2006/5/9/entrez SP - 153 EP - 8 JF - Journal of the neurological sciences JO - J Neurol Sci VL - 246 IS - 1-2 N2 - 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. SN - 0022-510X UR - https://www.unboundmedicine.com/medline/citation/16677673/Cerebellar_ataxia_with_coenzyme_Q10_deficiency:_diagnosis_and_follow_up_after_coenzyme_Q10_supplementation_ DB - PRIME DP - Unbound Medicine ER -