A Man with Adult-onset Progressive Spastic Paraparesis: Genetically Confirmed as Novel Mutation of ABCD1 Gene

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.