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Adrenomyeloneuropathy with cerebral involvement due to a novel frameshift variant in ABCD1 gene

  • Kim, Hye Weon (Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Hyunjin (Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Jeong, Dongyoung (Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Chung, Kyuyoon (Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lee, Eun-Jae (Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lim, Young-Min (Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Kwang-Kuk (Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine)
  • 투고 : 2021.01.19
  • 심사 : 2021.03.10
  • 발행 : 2021.04.30

초록

Adrenoleukodystrophy (ALD) is the most common peroxisomal disorder caused by mutations in the gene, ABCD1, causing abnormal accumulation of very-long-chain fatty acids in the nervous system and adrenal glands. There are various clinical manifestations of ALD. Here we report a 47-year-old male with adrenomyeloneuropathy with cerebral involvement who exhibited progressive gait disturbance and cognitive impairment. A novel frameshift variant (c.95del [p.Val32Alafs*36]) in exon 1 of ABCD1 was identified. This report provides additional information regarding the various clinical characteristics of ALD.

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참고문헌

  1. Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993;361:726-730. https://doi.org/10.1038/361726a0
  2. Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Mol Genet Metab 1999;66:128-136. https://doi.org/10.1006/mgme.1998.2779
  3. Pavlakis SG. New insights into adrenoleukodystrophy. Eur J Paediatr Neurol 2017;21:597. https://doi.org/10.1016/j.ejpn.2017.05.002
  4. Kemp S, Huffnagel IC, Linthorst GE, Wanders RJ, Engelen M. Adrenoleukodystrophy-neuroendocrine pathogenesis and redefinition of natural history. Nat Rev Endocrinol 2016;12:606-615. https://doi.org/10.1038/nrendo.2016.90
  5. Berger J, Forss-Petter S, Eichler FS. Pathophysiology of X-linked adrenoleukodystrophy. Biochimie 2014;98:135-142. https://doi.org/10.1016/j.biochi.2013.11.023
  6. Park HJ, Shin HY, Kang HC, Choi BO, Suh BC, Kim HJ, et al. Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy. Yonsei Med J 2014;55:676-682. https://doi.org/10.3349/ymj.2014.55.3.676
  7. Vanderver A. Genetic leukoencephalopathies in adults. Continuum (Minneap Minn) 2016;22:916-942. https://doi.org/10.1212/con.0000000000000338
  8. Kohler W, Curiel J, Vanderver A. Adulthood leukodystrophies. Nat Rev Neurol 2018;14:94-105. https://doi.org/10.1038/nrneurol.2017.175
  9. Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, et al. Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy. N Engl J Med 2017;377:1630-1638. https://doi.org/10.1056/NEJMoa1700554
  10. Gong Y, Mu D, Prabhakar S, Moser A, Musolino P, Ren J, et al. Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy. Mol Ther 2015;23:824-834. https://doi.org/10.1038/mt.2015.6