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Restoring balance to ataxia with coenzyme Q10 deficiency

2006; Elsevier BV; Volume: 246; Issue: 1-2 Linguagem: Inglês

10.1016/j.jns.2006.03.017

1878-5883

Michio Hirano, Catarina M. Quinzii, Salvatore DiMauro,

Advanced battery technologies research

A vital lipophillic component of cell membranes, coenzyme Q10 (CoQ10 or ubiquinone) has been the subject of increasing attention because deficiency of CoQ10 has been associated with autosomal recessive neurological disorders that respond dramatically to CoQ10 supplementation [ 1 Horvath R. Schneiderat P. Schoser B.G. Gempel K. Neuen-Jacob E. Ploger H. et al. Coenzyme Q10 deficiency and isolated myopathy. Neurology. 2006 (Jan 24); 66: 253-255 Crossref PubMed Scopus (94) Google Scholar , 2 Musumeci O. Naini A. Slonim A.E. Skavin N. Hadjigeorgiou G.L. Krawiecki N. et al. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology. 2001; 56: 849-855 Crossref PubMed Scopus (222) Google Scholar , 3 Naini A. Lewis V.-J. Hirano M. DiMauro S. Primary coenzyme Q10 deficiency and the brain. BioFactors. 2003; 18: 145-152 Crossref PubMed Scopus (48) Google Scholar , 4 Ogasahara S. Engel A.G. Frens D. Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A. 1989; 86: 2379-2382 Crossref PubMed Scopus (332) Google Scholar , 5 Quinzii C. Naini A. Salviati L. Trevisson E. Navas P. Dimauro S. et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet. 2006 (Feb); 78: 345-349 Abstract Full Text Full Text PDF PubMed Scopus (272) Google Scholar , 6 Rötig A. Appelkvist E.L. Geromel V. Chretien D. Kadhom N. Edery P. et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet. 2000 (Jul 29); 356: 391-395 Abstract Full Text Full Text PDF PubMed Scopus (313) Google Scholar ]. Seventeen years ago, CoQ10 deficiency was first reported in two siblings who presented with the clinical triad of myoglobinuria, encephalopathy (seizures and mental retardation), and ragged-red fibers in muscle biopsies [ [4] Ogasahara S. Engel A.G. Frens D. Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A. 1989; 86: 2379-2382 Crossref PubMed Scopus (332) Google Scholar ]. In addition to the original – predominantly myopathic – phenotype, at least four other phenotypes have been associated with CoQ10 deficiency: childhood-onset cerebellar ataxia (often associated with seizures, muscle weakness, mental retardation, pyramidal tract signs, and peripheral neuropathy), infantile-onset encephalomyopathy with nephropathy, Leigh syndrome, and isolated childhood or adult-onset myopathy [ 1 Horvath R. Schneiderat P. Schoser B.G. Gempel K. Neuen-Jacob E. Ploger H. et al. Coenzyme Q10 deficiency and isolated myopathy. Neurology. 2006 (Jan 24); 66: 253-255 Crossref PubMed Scopus (94) Google Scholar , 2 Musumeci O. Naini A. Slonim A.E. Skavin N. Hadjigeorgiou G.L. Krawiecki N. et al. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology. 2001; 56: 849-855 Crossref PubMed Scopus (222) Google Scholar , 6 Rötig A. Appelkvist E.L. Geromel V. Chretien D. Kadhom N. Edery P. et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet. 2000 (Jul 29); 356: 391-395 Abstract Full Text Full Text PDF PubMed Scopus (313) Google Scholar , 7 Di Giovanni S. Mirabella M. Spinazzola A. Crociani P. Silvestri G. Broccolini A. et al. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology. 2001 (Aug 14); 57: 515-518 Crossref PubMed Scopus (147) Google Scholar , 8 Rahman S. Hargreaves I. Clayton P. Heales S. Neonatal presentation of coenzyme Q10 deficiency. J Pediatr. 2001 (Sep); 139: 456-458 Abstract Full Text Full Text PDF PubMed Scopus (106) Google Scholar , 9 Salviati L. Sacconi S. Murer L. Zaccello G. Franceschini L. Laverda A.M. et al. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology. 2005 (Aug 23); 65: 606-608 Crossref PubMed Scopus (154) Google Scholar , 10 Sobreira C. Hirano M. Shanske S. Keller R.K. Haller R.G. Davidson E. et al. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology. 1997 (May); 48: 1238-1243 Crossref PubMed Scopus (182) Google Scholar , 11 Van Maldergem L. Trijbels F. DiMauro S. Sindelar P.J. Musumeci O. Janssen A. et al. Coenzyme Q-responsive Leigh's encephalopathy in two sisters. Ann Neurol. 2002 (Dec); 52: 750-754 Crossref PubMed Scopus (128) Google Scholar ]. In this issue, Artuch and colleagues describe a 12-year-old girl with cerebellar ataxia and CoQ10 deficiency, who improved with CoQ10 supplementation, further underscoring the importance of recognizing this treatable condition [ [12] Artuch R. Brea-Calvo G. Briones P. Aracil A. Galván M. Espinós C. et al. Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. J Neurol Sci. 2006; PubMed Google Scholar ]. Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementationJournal of the Neurological SciencesVol. 246Issues 1-2PreviewOur 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. Full-Text PDF