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

Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2002

Bajaj N P S, Waldman A, Orrell R, Wood N W, Bhatia K P

Abstract excerpt

Krabbe's disease (globoid cell leucodystrophy) is a disorder involving the white matter of the peripheral and central nervous systems. Mutations in the gene for the lysosomal enzyme galactocerebrosidase (GALC) result in low enzymatic activity and decreased ability to degrade galactolipids found in myelin. The disease is classically of infantile onset, but adult onset cases have been reported. Magnetic resonance...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Brain
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Galactosylceramidase

Share to Glycolipids

Share to Leukodystrophy, Globoid Cell

Share to Magnetic Resonance Imaging

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 11971051
DOI: 10.1136/jnnp.72.5.635
PMCID: PMC1737880

Genes

GALC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging.PMID 11971051Read ↗

Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase geneSemantic proximity Read ↗

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.Semantic proximity Read ↗

GALC mutations in Chinese patients with late-onset Krabbe disease: a case reportSemantic proximity Read ↗

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.Semantic proximity Read ↗

Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease.Semantic proximity Read ↗

Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene.Semantic proximity Read ↗

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.Semantic proximity Read ↗

A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.Semantic proximity Read ↗

A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.Semantic proximity Read ↗

A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.Semantic proximity Read ↗

An autopsy case report of adult-onset Krabbe disease: Comparison with an infantile-onset case.Semantic proximity Read ↗

Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report.Semantic proximity Read ↗

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