Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
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.
Quinzii
C M
CM
Department of Neurology, Columbia University College of Physicians & Surgeons, New York, NY 10032, USA
Kattah
A G
AG
Naini
A
A
Akman
H O
HO
Mootha
V K
VK
DiMauro
S
S
Hirano
M
M
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
C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D014451:Ubiquinone