ASSOCIATION OF X-LINKED ADRENOLEUKODYSTROPHY WITH HLA DRB1 ALLELES

Inflammatory demyelination in the central nervous system in the childh ood cerebral phenotype of X-linked adrenoleukodystrophy (X-ALD) bears resemblance to that of multiple sclerosis. With a view to an associati on of HLA class II genes, specifically HLA-DRB1 subtype DRB115 to mul tiple sclerosis we investigated the HLA class II DR haplotype in 29 un related X-ALD patients including 17 childhood cerebral phenotype patie nts. Our results did not show an association of DRB115 and X-ALD, but disclosed a significant association of HLA DRB116 alleles and X-ALD in general. This finding suggests that in addition to the X-chromosoma l ALD gene an autosomal gene linked to the HLA class II region is invo lved in the pathogenesis of X-ALD This gene should affect a pathomecha nism common to all ALD variants, such as defective peroxisomal metabol ism of very long chain fatty acids. (C) 1995 Academic Press, Inc.