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

Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene.

Brain & development - 1 Jun 2013

Tokushige Shin-ichi, Sonoo Tomohiro, Maekawa Risa, Shirota Yuichiro, Hanajima Ritsuko, Terao Yasuo, Matsumoto Hideyuki, Hossain Mohammad Arif, Sakai Norio, Shiio Yasushi

Abstract excerpt

This report describes a 60-year-old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia. Brain magnetic resonance imaging showed high-intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to DNA Mutational Analysis
Share to Evoked Potentials, Motor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Galactosylceramidase

Share to Leukodystrophy, Globoid Cell

Share to Magnetic Resonance Imaging

Share to Neural Conduction

Share to Pyramidal Tracts

Source

Identifiers

PMID: 22959700
DOI: 10.1016/j.braindev.2012.08.004

Genes

GALC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22959700-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene.PMID 22959700Read ↗

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

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

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

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

Adult-onset Krabbe disease presenting as isolated sensorimotor demyelinating polyneuropathy: A case report.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 ↗

Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature.Semantic proximity Read ↗

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

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

A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.Semantic proximity Read ↗

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.Semantic proximity Read ↗

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

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