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

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.

PloS one - 1 Jan 2017

Chen Ying-Hao, Lee Yi-Chung, Tsai Yu-Shuen, Guo Yuh-Cherng, Hsiao Cheng-Tsung, Tsai Pei-Chien, Huang Jin-An, Liao Yi-Chu, Soong Bing-Wen

Abstract excerpt

Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Mutations in the ATP binding cassette subfamily D member 1 gene...

Read the complete abstract on PubMed

Topics

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

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATP-Binding Cassette Transporters

Share to Cerebellar Ataxia

Share to Cohort Studies

Share to Magnetic Resonance Imaging

Share to Pedigree

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 28481932
DOI: 10.1371/journal.pone.0177296
PMCID: PMC5421786

Genes

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

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.PMID 28481932Read ↗

Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.Semantic proximity Read ↗

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

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

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.Semantic proximity Read ↗

Recent advances in the genetics of cerebellar ataxias.Semantic proximity Read ↗

The inherited cerebellar ataxias: an update.Semantic proximity Read ↗

Genetic cerebellar ataxias.Semantic proximity Read ↗

Spectrum of Clinical and Imaging Characteristics of 48 X-Linked Adrenoleukodystrophy Patients: Our Experience from a University Hospital.Semantic proximity Read ↗

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.Semantic proximity Read ↗

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

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

The genetic nomenclature of recessive cerebellar ataxias.Semantic proximity Read ↗

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