Ann Clin Neurophysiol.  2021 Apr;23(1):61-64. 10.14253/acn.2021.23.1.61.

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

Affiliations
  • 1Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
  • 2Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Korea

Abstract

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.

Keyword

Adrenoleukodystrophy; Phenotype
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