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

Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?

Journal of physiology, Paris - 1 Jan 2000

Baumann Nicole, Turpin Jean-Claude, Lefevre Mireille, Colsch Benoit

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is biochemically characterized by an accumulation of sulfatides (sulfogalactosylceramides) mainly in oligodendrocytes and macrophages/microglia. The deficient enzyme is a lysosomal hydrolase, cerebroside sulfate sulfatase (arylsulfatase A). MLD is both a dysmyelinating and a demyelinating disease. The main clinical forms are infantile or...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cognition
Share to Genotype

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

Share to Infant

Share to Leukodystrophy, Metachromatic

Share to Movement Disorders

Share to Phenotype

Source

Identifiers

PMID: 12445909
DOI: 10.1016/s0928-4257(02)00019-0

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

Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?PMID 12445909Read ↗

Metachromatic Leukodystrophy – An UpdateSemantic proximity Read ↗

A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy.Semantic proximity Read ↗

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

Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.Semantic proximity Read ↗

[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects].Semantic proximity Read ↗

Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.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 ↗

Brain MRI and biological diagnosis in five Tunisians MLD patients.Semantic proximity Read ↗

Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy.Semantic proximity Read ↗

Enzyme, cell and gene‐based therapies for metachromatic leukodystrophySemantic proximity Read ↗

Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of 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 ↗

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