Progressive Cognitive and Behavioral Changes With Leukodystrophy due to ABCD1 Gene Mutation.

Abstract

Adrenoleukodystrophy (ALD) is caused by a mutation in the ABCD1 gene, which is located on the X-chromosome (Xq28).1 Peroxisomal dysfunction leads to accumulation of very long-chain fatty acids (VLCFA) in adrenal glands and peripheral white matter of the central nervous system.2 In contrast to childhood-onset ALD, adult-onset ALD is relatively rare and asymptomatic until the 4th decade of life.1 Since ALD has X-linked inheritance, it is difficult to prioritize genetic testing when there are only a few family members. In addition, if there are extensive white matter changes without a definitive family history, early diagnosis is difficult because other etiologies such as demyelinating disease should be given priority consideration. Herein, we report a sporadic case of adult-onset ALD caused by ABCD1 mutation. The condition was originally thought to be a demyelinating disease. Therefore, the ALD diagnosis was delayed.