Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency

Neurology. 2004 Mar 9;62(5):818-20. doi: 10.1212/01.wnl.0000113719.67643.b7.

Abstract

Two brothers had late-onset progressive ataxia, cerebellar atrophy, and hypergonadotropic hypogonadism associated with coenzyme Q10 (CoQ10) deficiency in skeletal muscle. Both patients improved on high-dose CoQ10 supplementation, stressing the importance of CoQ10 deficiency in the differential diagnosis of cerebellar ataxia, even when onset is late.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / etiology*
  • Coenzymes
  • Diagnosis, Differential
  • Humans
  • Hypogonadism / complications
  • Hypogonadism / etiology*
  • Male
  • Middle Aged
  • Mitochondrial Encephalomyopathies / diagnosis*
  • Muscle, Skeletal / enzymology*
  • Siblings
  • Ubiquinone / administration & dosage
  • Ubiquinone / analogs & derivatives*
  • Ubiquinone / deficiency*

Substances

  • Coenzymes
  • Ubiquinone
  • coenzyme Q10