Yonsei Med J.  2014 May;55(3):676-682. 10.3349/ymj.2014.55.3.676.

Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy

Affiliations
  • 1Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea.
  • 2Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. kimsm@yuhs.ac
  • 3Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
  • 4Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 5Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 6Department of Neurology, Research Institute and Hospital of National Cancer Center, Goyang, Korea.

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.

Keyword

Adrenoleukodystrophy; adrenomyeloneuropathy; ataxia; very long chain fatty acid; ABCD1

MeSH Terms

ATP-Binding Cassette Transporters/genetics
Adolescent
Adrenoleukodystrophy/*diagnosis/*genetics
Adult
Brain/pathology
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Republic of Korea
Young Adult

Figure

  • Fig. 1 Brain MRI scans of Korean adrenomyeloneuropathy patients. (A) Patient 8 showed T2 hyperintense lesion involving the corticospinal tract, right temporo-occipital subcortex and right cerebellum. (B) Patient 9 showed T2 hyperintense lesions of the splenium and corticospinal tract. (C) Patient 10 showed bilateral lesions around the dentate nucleus. (D) Patient 12 showed a T2 high signal intense area involving the corticospinal tract.

  • Fig. 2 Localization of different mutations within the ABCD1 gene in Korean adrenomyeloneuropathy patients.


Cited by  1 articles

Adrenomyeloneuropathy with cerebral involvement due to a novel frameshift variant in ABCD1 gene
Hye Weon Kim, Hyunjin Kim, Dongyoung Jeong, Kyuyoon Chung, Eun-Jae Lee, Young-Min Lim, Kwang-Kuk Kim
Ann Clin Neurophysiol. 2021;23(1):61-64.    doi: 10.14253/acn.2021.23.1.61.


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