Variable onset of metachromatic leukodystrophy in a Vietnamese family

We report two siblings with metachromatic leukodystrophy, one who presented at 7 years of age (juvenile onset) and his sister who presented at 22 year s of age (adult onset), They are compound heterozygotes for two novel mutat ions in the arylsufatase ii gene (ARSA), The responsible mutations in this Vietnamese family consist of a missense mutation with 5 % enzyme activity ( R143G) and a nonsense mutation (W318ter), from which no enzyme activity wou ld be expected, These mutations in the ARSA gene have not been previously r eported and may be useful when diagnosing metachromatic leukodystrophy in o ther affected Vietnamese individuals. The variability in presentation sugge sts that the genotype alone is not sufficient to determine the onset and co urse of the disease and modifying genetic and perhaps nongenetic factors li kely contribute, (C) 2000 by Elsevier Science Inc. All rights reserved.