title: Clinical presentations of coenzyme q10 deficiency syndrome.
abstract: Coenzyme Q10 (CoQ10) deficiency is a clinically and genetically heterogeneous syndrome which has been associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) nephropathy, (4) cerebellar ataxia, and (5) isolated myopathy. Of these phenotypes, cerebellar ataxia and syndromic or isolated nephrotic syndrome are the most common. CoQ10 deficiency predominantly presents in childhood. To date, causative mutations have been identified in a small proportion of patients, making it difficult to identify a phenotype-genotype correlation. Identification of CoQ10 deficiency is important because the disease, in particular muscle symptoms and nephropathy, frequently responds to CoQ10 supplementation.
authors.affiliation: Department of Neurology, H. Houston Merritt Clinical Research Center, Columbia University Medical Center, New York, N.Y., USA.
authors.forename: Catarina M
authors.initials: CM
authors.lastname: Quinzii
authors.affiliation: Department of Neurology, H. Houston Merritt Clinical Research Center, Columbia University Medical Center, New York, N.Y., USA.
authors.forename: Valentina
authors.initials: V
authors.lastname: Emmanuele
authors.affiliation: Department of Neurology, H. Houston Merritt Clinical Research Center, Columbia University Medical Center, New York, N.Y., USA.
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
keywords: Cerebellar ataxia; Coenzyme Q10 deficiency; Encephalomyopathy; Steroid-resistant nephrotic syndrome