Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
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.
Le Ber
I
I
Inserm U679, Hôpital de La Pitié-Salpêtrière, Paris, France.
Dubourg
O
O
Benoist
J-F
JF
Jardel
C
C
Mochel
F
F
Koenig
M
M
Brice
A
A
Lombès
A
A
Dürr
A
A
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
C438188:APTX protein, human; D003067:Coenzymes; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D014451:Ubiquinone; C024989:coenzyme Q10