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

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

Neurocase - 1 Jun 2022

He Zhengqing, Pang Xinyuan, Bai Jiongming, Wang Haoran, Feng Feng, Du Rongrong, Huang Xusheng

Abstract excerpt

To analyze the clinical, imaging, and genetic characteristics of a patient diagnosed with adult-onset Krabbe disease (KD). Clinical and imaging features of the patient were retrospectively reviewed. The patient, a 40-year-old female, presented adult-onset spastic paraplegia. Brain magnetic resonance imaging (MRI) showed white matter hyperintensities along bilateral optic radiations. Colorimetry of...

Read the complete abstract on PubMed

Topics

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

Share to Galactosylceramidase
Share to Leukodystrophy, Globoid Cell

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Paraplegia

Source

Identifiers

PMID: 35654103
DOI: 10.1080/13554794.2022.2083518

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.PMID 35654103Read ↗

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 ↗

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

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

Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.Semantic proximity Read ↗

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

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

Clinical and molecular findings in 6 Turkish cases with Krabbe disease.Semantic proximity Read ↗

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

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

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

Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature.Semantic proximity Read ↗

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

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