title: Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
abstract: APTX gene mutations responsible for ataxia-oculomotor apraxia 1 (AOA1) were identified in a family previously reported with ataxia and coenzyme Q10 (CoQ10) deficiency. We measured muscle CoQ10 levels in six patients with AOA1 and found decreased levels in five. Patients homozygous for the W279X mutation had lower values (p = 0.003). A therapeutic trial of CoQ10 may be warranted in patients with AOA1.
authors.affiliation: Inserm U679, Hôpital de La Pitié-Salpêtrière, Paris, France.
authors.forename: I
authors.initials: I
authors.lastname: Le Ber
authors.forename: O
authors.initials: O
authors.lastname: Dubourg
authors.forename: J-F
authors.initials: JF
authors.lastname: Benoist
authors.forename: C
authors.initials: C
authors.lastname: Jardel
authors.forename: F
authors.initials: F
authors.lastname: Mochel
authors.forename: M
authors.initials: M
authors.lastname: Koenig
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: A
authors.initials: A
authors.lastname: Lombès
authors.forename: A
authors.initials: A
authors.lastname: Dürr
mesh_terms: D000328:Adult; D001072:Apraxias / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D001259:Ataxia / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D003067:Coenzymes; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D015840:Oculomotor Nerve Diseases / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency / Q000235:genetics
chemical_list: C438188:APTX protein, human; D003067:Coenzymes; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D014451:Ubiquinone; C024989:coenzyme Q10