Tumor necrosis factor-alpha and X-linked adrenoleukodystrophy

J Neuroimmunol. 1995 Sep;61(2):161-9. doi: 10.1016/0165-5728(95)00084-f.


The two most common forms of X-linked adrenoleukodystrophy (X-ALD), the childhood cerebral form (CCER) and the adult form, adrenomyeloneuropathy (AMN), arise from the same mutations in the X-ALD gene at Xq28. These two forms are distinguished by the degree of cerebral inflammation. Segregation analysis suggests that an autosomal modifying gene may be a major determinant of phenotype in X-ALD. Thus, a modifying gene could be involved in initiating or promoting the inflammatory response. In this study we detected a difference in tumor necrosis factor-alpha (TNF-alpha) bioactivity, but not TNF-alpha protein levels, in serum from some advanced CCER patients. Early-stage CCER patients and AMN patients were in the normal range. Allelic differences in TNF-alpha or levels of soluble TNF receptor did not account for bioactivity differences or phenotypic heterogeneity in X-ALD.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adrenoleukodystrophy / physiopathology*
  • Alleles
  • Base Sequence
  • Child
  • DNA Primers / chemistry
  • DNA, Complementary / genetics
  • Humans
  • Interleukin-1 / pharmacology
  • Introns
  • Lymphocyte Activation
  • Male
  • Molecular Sequence Data
  • Phytohemagglutinins / pharmacology
  • Polymorphism, Single-Stranded Conformational
  • Receptors, Tumor Necrosis Factor / metabolism
  • Tumor Necrosis Factor-alpha / genetics*


  • DNA Primers
  • DNA, Complementary
  • Interleukin-1
  • Phytohemagglutinins
  • Receptors, Tumor Necrosis Factor
  • Tumor Necrosis Factor-alpha