A Novel ABCD1 G1202A Mutation in a Chinese Patient with Pure Adrenomyeloneuropathy and Literature Review

ConclusionsWe report a rare Chinese pure AMN case with slowly progressive weakness of the lower extremities, caused by a novel c.1202G>A mutation in ABCD1 gene. The literature review indicates that spastic paraplegia is the mainly clinical manifestation in patients with AMN. VLCFAs and ABCD1 gene test should be performed in patients with spastic paraplegia of the lower limbs to diagnose AMN.

Source: Genes and Diseases - January 29, 2020 Category: Genetics & Stem Cells Source Type: research