Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.

Annals of neurology - 1 Mar 1992

Kappler J, von Figura K, Gieselmann V

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Alleles
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Gene Frequency

Share to Heterozygote

Share to Molecular Sequence Data

Share to Phenotype

Source

Identifiers

PMID: 1353340
DOI: 10.1002/ana.410310305

Genes

ARSA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.PMID 1353340Read ↗

A novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy.Semantic proximity Read ↗

Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.Semantic proximity Read ↗

Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.Semantic proximity Read ↗

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.Semantic proximity Read ↗

Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.Semantic proximity Read ↗

Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype.Semantic proximity Read ↗

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.Semantic proximity Read ↗

Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.Semantic proximity Read ↗

Metachromatic Leukodystrophy – An UpdateSemantic proximity Read ↗

Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.Semantic proximity Read ↗

A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy.Semantic proximity Read ↗

Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.