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Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up

Authors

  • Merce Pineda MD, PhD,

    1. Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
    2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain
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  • Raquel Montero PhD,

    1. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain
    2. Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain
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  • Asuncion Aracil MD,

    1. Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
    2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain
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  • Mar M. O'Callaghan MD,

    1. Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
    2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain
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  • Ana Mas MD,

    1. Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Spain
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  • Carmen Espinos PhD,

    1. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain
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  • Dolores Martinez-Rubio BS,

    1. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain
    2. Genetics and Medicine Molecular Unit, Instituto de Biomedicina de Valencia–CSIC, Valencia, Spain
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  • Francesc Palau MD, PhD,

    1. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain
    2. Genetics and Medicine Molecular Unit, Instituto de Biomedicina de Valencia–CSIC, Valencia, Spain
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  • Placido Navas PhD,

    1. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain
    2. Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, Sevilla, Spain
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  • Paz Briones PhD,

    1. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain
    2. Institut de Bioquímica Clínica, Hospital Clinic and CSIC, Barcelona, Spain
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  • Rafael Artuch MD, PhD

    Corresponding author
    1. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain
    2. Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain
    • Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues, Barcelona, Spain
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  • Potential conflict of interest: Nothing to report.

Abstract

We assessed the clinical outcome after coenzyme Q10 (CoQ10) therapy in 14 patients presenting ataxia classified into two groups according to CoQ10 values in muscle (deficient or not). We performed an open-label prospective study: patients were evaluated clinically (international cooperative ataxia rating scale [ICARS] scale, MRI, and videotape registration) at baseline and every 6 months during a period of 2 years after CoQ10 treatment (30 mg/kg/day). Patients with CoQ10 deficiency showed a statistically significant reduction of ICARS scores (Wilcoxon test: P = 0.018) after 2 years of CoQ10 treatment when compared with baseline conditions. In patients without CoQ10 deficiency, no statistically significant differences were observed in total ICARS scores after therapy, although 1 patient from this group showed a remarkable clinical amelioration. Biochemical diagnosis of CoQ10 deficiency was a useful tool for the selection of patients who are good candidates for treatment as all of them responded to therapy. However, the remarkable clinical response in 1 case without CoQ10 deficiency highlights the importance of treatment trials for identification of patients with CoQ10-responsive ataxia. © 2010 Movement Disorder Society

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