X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans

Mol Genet Metab. 2017 Nov;122(3):130-133. doi: 10.1016/j.ymgme.2017.08.012. Epub 2017 Sep 1.


Background: X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder leading to the accumulation of very long chain fatty acids (VLCFA) due to a mutation in the ABCD1 gene. ABCD1 mutations lead to a variety of phenotypes, including cerebral X-ALD and adrenomyeloneuropathy (AMN) in affected males and 80% of carrier females. There is no definite genotype-phenotype correlation with intrafamilial variability. Cerebral X-ALD typically presents in childhood, but can also present in juveniles and adults. The most affected tissues are the white matter of the brain and adrenal cortex. MRI demonstrates a characteristic imaging appearance in cerebral X-ALD that is used as a diagnostic tool.

Objectives: We aim to correlate a mutation in the ABCD1 gene in a chimpanzee to the human disease X-ALD based on MRI features, neurologic symptoms, and plasma levels of VLCFA.

Methods: Diagnosis of X-ALD made using MRI, blood lipid profiling, and DNA sequencing.

Results: An 11-year-old chimpanzee showed remarkably similar features to juvenile onset cerebral X-ALD in humans including demyelination of frontal lobes and corpus callosum on MRI, elevated plasma levels of C24:0 and C26:0, and identification of the c.1661G>A ABCD1 variant.

Conclusions: This case study presents the first reported case of a leukodystrophy in a great ape, and underscores the fidelity of MRI pattern recognition in this disorder across species.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics*
  • Adrenoleukodystrophy / diagnostic imaging
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Age of Onset
  • Animals
  • Brain / anatomy & histology
  • Brain / diagnostic imaging
  • Brain / physiopathology*
  • Coenzyme A Ligases / blood
  • Demyelinating Diseases
  • Female
  • Frontal Lobe / pathology
  • Genetic Association Studies
  • Humans
  • Lipids / blood
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Pan troglodytes / genetics*
  • Phenotype
  • Sequence Analysis, DNA / methods


  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • Lipids
  • Coenzyme A Ligases
  • long-chain-fatty-acid-CoA ligase