Annals of Clinical Neurophysiology

  • 제23권1호
  • /
  • Pages.61-64
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  • 2021
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  • 2508-691X(pISSN)
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  • 2508-6960(eISSN)
대한임상신경생리학회 (The Korean Society of Clinical Neurophysiology)
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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
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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

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