title: Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
abstract: Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients with these disorders improve with CoQ10 supplementation. In a family with ataxia and CoQ10 deficiency, analysis of genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13 and led to identification of an aprataxin gene (APTX) mutation that causes ataxia oculomotor apraxia (AOA1 [MIM606350]). The authors' observations indicate that CoQ10 deficiency may contribute to the pathogenesis of AOA1.
authors.affiliation: Department of Neurology, Columbia University College of Physicians & Surgeons, New York, NY 10032, USA
authors.forename: C M
authors.initials: CM
authors.lastname: Quinzii
authors.forename: A G
authors.initials: AG
authors.lastname: Kattah
authors.forename: A
authors.initials: A
authors.lastname: Naini
authors.forename: H O
authors.initials: HO
authors.lastname: Akman
authors.forename: V K
authors.initials: VK
authors.lastname: Mootha
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: M
authors.initials: M
authors.lastname: Hirano
mesh_terms: D019943:Amino Acid Substitution; D002675:Child, Preschool; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics; D034141:Hypoalbuminemia / Q000235:genetics*; D007223:Infant; D008126:Lod Score; D008297:Male; D018908:Muscle Weakness / Q000235:genetics; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D010641:Phenotype; D017354:Point Mutation; D013132:Spinocerebellar Degenerations / Q000188:drug therapy / Q000235:genetics*; D014451:Ubiquinone / Q000172:deficiency* / Q000627:therapeutic use
chemical_list: C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D014451:Ubiquinone