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Late‐onset metachromatic leukodystrophy: Molecular pathology in two siblings
Author(s) -
Kappler Joachim,
von Figura Kurt,
Gieselmann Volkmar
Publication year - 1992
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410310305
Subject(s) - metachromatic leukodystrophy , arylsulfatase a , allele , leukodystrophy , glutamine , locus (genetics) , genotype , genetics , biology , phenotype , arginine , pathology , medicine , gene , disease , amino acid
We report on a new allele at the arylsulfatase A (ARSA) locus causing late‐onset metachromatic leukodystrophy (MLD). In that allele arginine 84 , 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 arginine 84 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.