Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
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Kappler J, von Figura K, Gieselmann V
Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
Ann Neurol. 1992 Mar;31(3):256-61.
- PubMed ID
- 1353340 [ View in PubMed]
- 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.