title: Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
abstract: Coenzyme Q(10) (CoQ(10)) deficiency has been associated with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. Primary CoQ(10) deficiency is due to defects in CoQ(10) biosynthesis, while secondary forms are due to other causes. A review of 149 cases, including our cohort of 76 patients, confirms that CoQ(10) deficiency is a clinically and genetically heterogeneous syndrome that mainly begins in childhood and predominantly manifests as cerebellar ataxia. Coenzyme Q(10) measurement in muscle is the gold standard for diagnosis. Identification of CoQ(10) deficiency is important because the condition frequently responds to treatment. Causative mutations have been identified in a small proportion of patients.
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, New York, USA.
authors.forename: Valentina
authors.initials: V
authors.lastname: Emmanuele
authors.forename: Luis C
authors.initials: LC
authors.lastname: López
authors.forename: Luis
authors.initials: L
authors.lastname: López
authors.forename: Andres
authors.initials: A
authors.lastname: Berardo
authors.forename: Ali
authors.initials: A
authors.lastname: Naini
authors.forename: Saba
authors.initials: S
authors.lastname: Tadesse
authors.forename: Bing
authors.initials: B
authors.lastname: Wen
authors.forename: Erin
authors.initials: E
authors.lastname: D'Agostino
authors.forename: Martha
authors.initials: M
authors.lastname: Solomon
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.forename: Catarina
authors.initials: C
authors.lastname: Quinzii
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
mesh_terms: D000818:Animals; D002524:Cerebellar Ataxia / Q000235:genetics / Q000628:therapy; D015331:Cohort Studies; D018740:Genetic Heterogeneity; D006801:Humans; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000096:biosynthesis / Q000172:deficiency / Q000627:therapeutic use
chemical_list: D014451:Ubiquinone; C024989:coenzyme Q10