Cerebellar ataxia and coenzyme Q10 deficiency

C. Lamperti, A. Naini, M. Hirano, D. C. De Vivo, E. Bertini, S. Servidei, M. Valeriani, D. Lynch, B. Banwell, M. Berg, T. Dubrovsky, C. Chiriboga, C. Angelini, E. Pegoraro, Salvatore DiMauro

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1206-1208
Number of pages3
JournalNeurology
Volume60
Issue number7
Publication statusPublished - Apr 8 2003

ASJC Scopus subject areas

  • Neuroscience(all)

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  • Cite this

    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, 60(7), 1206-1208.