MUTATIONS IN THE ADRENOLEUKODYSTROPHY GENE

Adrenoleukodystrophy (ALD) is a peroxisomal disorder that commonly man ifests as demyelination of the central nervous system (CNS). The isola tion of the ALD gene by positional cloning has led to the identificati on of a variety of mutations in the ALD gene. One hundred and ten muta tions have been identified to date, of which approximately 50% are mis sense mutations. While rapid DNA based diagnoses of ALD is now possibl e, there appears to be no simple correlation between genotype and phen otype. (C) 1997 Wiley-Liss, Inc.