Late-onset metachromatic leukodystrophy: molecular pathology in two siblings

Ann Neurol. 1992 Mar;31(3):256-61. doi: 10.1002/ana.410310305.

Abstract

We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. A comparison of genotypes, ARSA activities, and clinical data on 4 individuals carrying the allele of 81 patients with MLD examined, further validates the concept that different degrees of residual ARSA activity are the basis of phenotypical variation in MLD.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Alleles
  • Base Sequence
  • Cerebroside-Sulfatase / deficiency*
  • Cerebroside-Sulfatase / genetics
  • DNA Mutational Analysis
  • Gene Frequency
  • Genes
  • Heterozygote
  • Homozygote
  • Humans
  • Leukodystrophy, Metachromatic / classification
  • Leukodystrophy, Metachromatic / genetics*
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed
  • Phenotype

Substances

  • Cerebroside-Sulfatase