J Korean Neurol Assoc.
2018 Feb;36(1):31-34. 10.17340/jkna.2018.1.7.
A Man with Adult-onset Progressive Spastic Paraparesis: Genetically Confirmed as Novel Mutation of ABCD1 Gene
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- 1Department of Neurology, Dong-A University College of Medicine, Busan, Korea. sangmcheon@gmail.com
- KMID: 2435782
- DOI: http://doi.org/10.17340/jkna.2018.1.7
Abstract
- 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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