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KMID : 0359720180360010031
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Journal of the Korean Neurological Association
2018 Volume.36 No. 1 p.31 ~ p.34
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A Man with Adult-onset Progressive Spastic Paraparesis: Genetically Confirmed as Novel Mutation of ABCD1 Gene
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Yoon Byeol-A
Kim Ji-Sun
Lee Geum-Bong
Kim Jae-Woo
Cheon Sang-Myung
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Abstract
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Spastic paraparesis is caused by various etiologies such as autoimmune, infection, genetic and metabolic disorder. Adrenomyeloneuropathy (AMN) is very rare but one of important causes in spastic paraparesis. We experienced a patient presenting with adult-onset progressive spastic paraparesis, who was diagnosed as AMN with hemizygous c.431C>T (p.A144V), a novel mutation in exon1. The level of very long chain fatty acid should be included in diagnostic work-up for patients presenting with adult-onset progressive spastic paraparesis.
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KEYWORD
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Adrenomyeloneuropathy, Spastic paraparesis
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