X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis

J Neurol Neurosurg Psychiatry. 2004 May;75(5):686-8. doi: 10.1136/jnnp.2003.022970.

Abstract

We present a family in which an initial clinical diagnosis of autosomal dominant pure hereditary spastic paraparesis (HSP) was made on the basis of a three generation pedigree in which both males and females presented with a spastic paraparesis. Subsequent biochemical and genetic analysis revealed that the family was in fact affected by the adrenomyeloneuropathy subtype of X-linked adrenoleukodystrophy. In the family described, both males and females were affected by a spastic paraparesis, and there was no male to male transmission, consistent with both autosomal dominant and X-linked inheritance. This report illustrates the importance of assaying very long chain fatty acids (VLCFAs) in any HSP family where there is no male to male transmission.

Publication types

  • Case Reports

MeSH terms

  • Adrenoleukodystrophy / diagnosis*
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / metabolism
  • Adult
  • Aged
  • Aged, 80 and over
  • Coenzyme A Ligases / metabolism
  • Diagnosis, Differential
  • Female
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Spastic Paraplegia, Hereditary / diagnosis*
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • Coenzyme A Ligases
  • long-chain-fatty-acid-CoA ligase