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

Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.

Neuro-degenerative diseases - 1 Jan 2018

Qiu Yusen, Xin Ling, Wang Yuyao, Yu Yanyan, Zou Keji, Zhou Qian, Chen Yunqing, Chen Shuyun, Zhu Min, Hong Daojun

Abstract excerpt

BACKGROUND: Adult adrenomyeloneuropathy (AMN) is caused by mutations in the ABCD1 gene. Some pure AMN patients develop cerebral demyelination late in life. However, hypoplasia and agenesis of the corpus callosum (CC) has never been reported in AMN patients. OBJECTIVE: To describe a new clinical variant of AMN that is possibly caused by a novel ABCD1 gene mutation. METHODS: A total of 10 members in an X-linked...

Read the complete abstract on PubMed

Topics

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

Share to Adrenoleukodystrophy
Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Agenesis of Corpus Callosum

Share to ATP Binding Cassette Transporter, Subfamily D, Member 1

Share to ATP-Binding Cassette Transporters

Share to Corpus Callosum

Share to Magnetic Resonance Imaging

Share to Pedigree

Source

Identifiers

PMID: 29966135
DOI: 10.1159/000490248

Genes

AMN
ABCD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.PMID 29966135Read ↗

Clinical, Neuroimaging, Biochemical, and Genetic Features in Six Chinese Patients with AdrenomyeloneuropathySemantic proximity Read ↗

Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy.Semantic proximity Read ↗

Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances-a recent review.Semantic proximity Read ↗

Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.Semantic proximity Read ↗

Identification of two novel mutations of ABCD1 gene in pedigrees with X‐linked adrenoleukodystrophySemantic proximity Read ↗

Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.Semantic proximity Read ↗

Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report.Semantic proximity Read ↗

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the LiteratureSemantic proximity Read ↗

Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapiesSemantic proximity Read ↗

Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.Semantic proximity Read ↗

Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation.Semantic proximity Read ↗

A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.Semantic proximity Read ↗

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