NEUROLOGICAL REVIEW Heterogeneity of Coenzyme Q Deficiency Patient Study and Literature Review Valentina Emmanuele, MD; Luis C. Lo´pez, PhD; Andres Berardo, MD; Ali Naini, PhD; Saba Tadesse, BS; Bing Wen, MD; Erin D’Agostino, BA; Martha Solomon, BA; Salvatore DiMauro, MD; Catarina Quinzii, MD; Michio Hirano, MD oenzyme Q (CoQ ) deficiency has been associated with 5 major clinical pheno- 10 10 types: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cer- ebellar ataxia, and isolated myopathy. Primary CoQ deficiency is due to defects in C CoQ biosynthesis, while secondary forms are due to other causes. A review of 149 cases, including our cohort of 76 patients, confirms that CoQ deficiency is a clinically and ge- netically heterogeneous syndrome that mainly begins in childhood and predominantly manifests as cerebellar ataxia. Coenzyme Q measurement in muscle is the gold standard for diagnosis. Iden- tification of CoQ deficiency is important because the condition frequently responds to treat- ment. Causative mutations have been identified in a small proportion of patients. Arch Neurol. 2012;69(8):978-983. Published online April 9, 2012. doi:10.1001/archneurol.2012.206 creased in 1 member of the family with similar Coenzyme Q (CoQ or ubiquinone) de- 10 10 phenotype and/or genetic mutation were con- ficiency in humans
JAMA Neurology – American Medical Association
Published: Aug 1, 2012
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