The Cerebellum

, Volume 6, Issue 2, pp 118–122 | Cite as

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency

  • Raquel Montero
  • Mercé Pineda
  • Asun Aracil
  • Maria-Antonia Vilaseca
  • Paz Briones
  • José-Antonio Sánchez-Alcázar
  • Plácido Navas
  • Rafael ArtuchEmail author
Mini-Review Scientific Papers


Coenzyme Q10 (CoQ) deficiency is an autosomal recessive disorder presenting five phenotypes: a myopathic form, a severe infantile neurological syndrome associated with nephritic syndrome, an ataxic variant, Leigh syndrome and a pure myopathic form. The third is the most common phenotype related with CoQ deficiency and it will be the focus of this review. This new syndrome presents muscle CoQ deficiency associated with cerebellar ataxia and cerebellar atrophy as the main neurological signs. Biochemically, the hallmark of CoQ deficiency syndrome is a decreased CoQ concentration in muscle and/or fibroblasts. There is no molecular evidence of the enzyme or gene involved in primary CoQ deficiencies associated with cerebellar ataxia, although recently a family has been reported with mutations atCOQ2 gene who present a distinct phenotype. Patients with primary CoQ deficiency may benefit from CoQ supplementation, although the clinical response to this therapy varies even among patients with similar phenotypes. Some present an excellent response to CoQ while others show only a partial improvement of some symptoms and signs. CoQ deficiency is the mitochondrial encephalomyopathy with the best clinical response to CoQ supplementation, highlighting the importance of an early identification of this disorder.

Key words

Cerebellum ataxia coenzyme Q10 deficiency mitochondrial respiratory chain 


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Copyright information

© Springer 2007

Authors and Affiliations

  • Raquel Montero
    • 1
  • Mercé Pineda
    • 2
  • Asun Aracil
    • 2
  • Maria-Antonia Vilaseca
    • 1
  • Paz Briones
    • 3
  • José-Antonio Sánchez-Alcázar
    • 4
  • Plácido Navas
    • 4
  • Rafael Artuch
    • 1
    Email author
  1. 1.Clinical Biochemistry DepartmentHospital Sant Joan de DéuEsplugues, BarcelonaSpain
  2. 2.Neurology DepartmentsHospital Sant Joan de DéuBarcelonaSpain
  3. 3.Institut de Bioquímica Clínica-CSICBarcelona
  4. 4.Centro Andaluz de Biología del DesarrolloUniversidad Pablo de OlavideSevillaSpain

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