Clinical and Genetic Aspects in Twelve Korean Patients With Adrenomyeloneuropathy

Yonsei Med J. 2014 May;55(3):676-82. doi: 10.3349/ymj.2014.55.3.676. Epub 2014 Apr 1.

Abstract

Purpose: This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN) patients.

Materials and methods: We retrospectively selected 12 Korean AMN patients diagnosed by clinical analysis and increased plasma content of very long chain fatty acids.

Results: All 12 patients were men. Patient ages at symptom onset ranged from 18 to 55 years. Family history was positive in two patients. The phenotype distributions consisted of AMN without cerebral involvement in seven patients, AMN with cerebral involvement in two patients, and the spinocerebellar phenotype in three patients. Nerve conduction studies revealed abnormalities in four patients and visual evoked tests revealed abnormalities in three patients. Somatosensory evoked potential tests revealed central conduction defects in all of the tested patients. Spinal MRI showed diffuse cord atrophy or subtle signal changes in all 12 patients. Brain MRI findings were abnormal in six of the nine tested patients. These brain abnormalities reflected the clinical phenotypes. Mutational analysis identified nine different ABCD1 mutations in 10 of 11 tested patients. Among them, nine have been previously reported and shown to be associated with various phenotypes; one was a novel mutation.

Conclusion: In conclusion, the present study is the first to report on the clinical and mutational spectrum of Korean AMN patients, and confirms various clinical presentations and the usefulness of brain MRI scan.

Keywords: ABCD1; Adrenoleukodystrophy; adrenomyeloneuropathy; ataxia; very long chain fatty acid.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics
  • Adolescent
  • Adrenoleukodystrophy / diagnosis*
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Brain / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Republic of Korea
  • Young Adult

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters