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Cerebellar ataxia and coenzyme Q10 deficiency
Abstract
The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset ataxia and cerebellar atrophy had markedly decreased levels of CoQ10. Associated symptoms included seizures, developmental delay, mental retardation, and pyramidal signs. These findings confirm the existence of an ataxic presentation of CoQ10 deficiency, which may be responsive to CoQ10 supplementation.
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Citations
Cited by
Schapira, A. H. (2006) · The Lancet · doi:10.1016/s0140-6736(06)68970-8 · Cited by 591
López, L. C., Schuelke, M., Quinzii, C. M., Kanki, T., Rodenburg, R. J. T., Naini, A., DiMauro, S., & Hirano, M. (2006) · The American Journal of Human Genetics · doi:10.1086/510023 · Cited by 395
Self-citationQuinzii, C., Naini, A., Salviati, L., Trevisson, E., Navas, P., DiMauro, S., & Hirano, M. (2006) · The American Journal of Human Genetics · doi:10.1086/500092 · Cited by 353
Self-citationGempel, K., Topaloglu, H., Talim, B., Schneiderat, P., Schoser, B. G. H., Hans, V. H., Pálmafy, B., Kale, G., Tokatli, A., Quinzii, C., et al. (2007) · Brain · doi:10.1093/brain/awm054 · Cited by 317
Self-citationJayadev, S., & Bird, T. D. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.28 · Cited by 271
Metadata
- Authors
- Lamperti, C., Naini, A., Hirano, M., De Vivo, D. C., Bertini, E., Servidei, S., Valeriani, M., Lynch, D., Banwell, B., Berg, M., Dubrovsky, T., Chiriboga, C., Angelini, C., Pegoraro, E., & DiMauro, S.
- Venue
- Neurology
- Published
- 2003-04-08
- Volume
- 60
- Issue
- 7
- Pages
- 1206-1208
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2168096563
- Cited by
- 206
- References
- 0
- FWCI
- 5.25
- Type
- journal article
- Language
- en
- Open access
- closed
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- Lamperti, C., Naini, A., Hirano, M., De Vivo, D. C., Bertini, E., Servidei, S., Valeriani, M., Lynch, D., Banwell, B., Berg, M., Dubrovsky, T., Chiriboga, C., Angelini, C., Pegoraro, E., & DiMauro, S. (2003). Cerebellar ataxia and coenzyme Q10 deficiency. Neurology. https://doi.org/10.1212/01.wnl.0000055089.39373.fc
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
