文章基本信息

标题：Adrenomyeloneuropathy with cerebral involvement due to a novel frameshift variant in ABCD1 gene (Case Report)
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作者：Hye Weon Kim ; Hyunjin Kim ; Dongyoung Jeong 等
期刊名称：Korean Journal of Clinical Neurophysiology
印刷版ISSN：1229-6414
出版年度：2021
卷号：23
期号：1
页码：61-64
DOI：10.14253/acn.2021.23.1.61
语种：English
出版社：KoreaMed Synapse
摘要：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.
关键词：ABCD;Adrenoleukodystrophy;Phenotype