A Man with Adult-onset Progressive Spastic Paraparesis: Genetically Confirmed as Novel Mutation of ABCD1 Gene
- Author:
Byeol A YOON
1
;
Jisun KIM
;
Geum Bong LEE
;
Jae Woo KIM
;
Sang Myung CHEON
Author Information
- Publication Type:Case Report
- Keywords: Adrenomyeloneuropathy; Spastic paraparesis
- MeSH: Adrenoleukodystrophy; Humans; Muscle Spasticity; Paraparesis, Spastic
- From:Journal of the Korean Neurological Association 2018;36(1):31-34
- CountryRepublic of Korea
- Language:Korean
- 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.
