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KMID : 1044320210230010061
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Annals of Clinical Neurophysiology
2021 Volume.23 No. 1 p.61 ~ p.64
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Adrenomyeloneuropathy with cerebral involvement due to a novel frameshift variant in ABCD1 gene
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Kim Hye-Weon
Kim Hyun-Jin
Jeong Dong-Young
Chung Kyu-Yoon
Lee Eun-Jae
Lim Young-Min
Kim Kwang-Kuk
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Abstract
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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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KEYWORD
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ABCD1, Adrenoleukodystrophy, Phenotype
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