Screening of patients with hereditary spastic paraparesis and Addison's disease for adrenoleukodystrophy/adrenomyeloneuropathy

Acta Neurol Scand. 1992 Feb;85(2):147-9. doi: 10.1111/j.1600-0404.1992.tb04015.x.

Abstract

X-linked adrenoleukodystrophy/adrenomyeloneuropathy presents a wide variation of clinical manifestations and may mimic several diseases. A screening investigation by measuring plasma saturated very long-chain fatty acids was performed in two groups of patients. Among six patients with hereditary spastic paraparesis one woman was detected to be a heterozygous gene carrier. However, in a group of eleven adult men with idiopathic Addison's disease the plasma concentrations of very long-chain fatty acids were all within normal limits. We conclude that X-linked adrenoleukodystrophy and symptomatic heterozygous females should be considered in cases of progressive spastic paraparesis.

MeSH terms

  • Addison Disease / genetics*
  • Addison Disease / prevention & control
  • Adult
  • Fatty Acids / blood
  • Female
  • Genetic Carrier Screening
  • Genetic Linkage / genetics*
  • Genetic Testing*
  • Humans
  • Male
  • Middle Aged
  • Neurologic Examination
  • Risk Factors
  • Sex Chromosome Aberrations / genetics*
  • Sex Chromosome Aberrations / prevention & control
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / prevention & control
  • X Chromosome*

Substances

  • Fatty Acids