title: Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.
abstract: Coenzyme Q(10) (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 at COQ2 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.
authors.affiliation: Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Montero
authors.forename: Mercé
authors.initials: M
authors.lastname: Pineda
authors.forename: Asun
authors.initials: A
authors.lastname: Aracil
authors.forename: Maria-Antonia
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: Paz
authors.initials: P
authors.lastname: Briones
authors.forename: José-Antonio
authors.initials: JA
authors.lastname: Sánchez-Alcázar
authors.forename: Plácido
authors.initials: P
authors.lastname: Navas
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D019883:Alkyl and Aryl Transferases / Q000235:genetics; D001284:Atrophy / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D002524:Cerebellar Ataxia / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology*; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D003067:Coenzymes / Q000172:deficiency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008928:Mitochondria / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency / Q000235:genetics
chemical_list: D003067:Coenzymes; D014451:Ubiquinone; D019883:Alkyl and Aryl Transferases; C021386:4-hydroxybenzoate polyprenyltransferase; C024989:coenzyme Q10