Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

Neurology. 2005 Feb 8;64(3):539-41. doi: 10.1212/01.WNL.0000150588.75281.58.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Substitution
  • Child, Preschool
  • Chromosomes, Human, Pair 9 / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / deficiency
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / physiology
  • Exons / genetics
  • Female
  • Genes, Recessive
  • Humans
  • Hyperlipoproteinemia Type II / genetics
  • Hypoalbuminemia / genetics*
  • Infant
  • Lod Score
  • Male
  • Muscle Weakness / genetics
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / pathology
  • Mutation, Missense
  • Nuclear Proteins / deficiency
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / physiology
  • Phenotype
  • Point Mutation
  • Spinocerebellar Degenerations / drug therapy
  • Spinocerebellar Degenerations / genetics*
  • Ubiquinone / deficiency*
  • Ubiquinone / therapeutic use

Substances

  • APTX protein, human
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Ubiquinone

Associated data

  • OMIM/606350