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 in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.

European journal of human genetics : EJHG - 1 Jun 2022

Kang You-Ri, Lee So-Hyun, Lin Ni-Hsuan, Lee Seung-Jin, Yang Ai-Wen, Chandrasekaran Gopalakrishnan, Kang Kyung Wook, Jin Mi Sun, Kim Myeong-Kyu, Perng Ming-Der, Choi Seok-Yong, Nam Tai-Seung

Abstract excerpt

Alexander disease (AxD) is a neurodegenerative astrogliopathy caused by mutation in the glial fibrillary acidic protein (GFAP) gene. A 42-year-old Korean man presented with temporary gait disturbance and psychiatric regression after a minor head trauma in the absence of bulbar symptoms and signs. Magnetic resonance images of the brain and spinal cord showed significant atrophy of the medulla oblongata and the...

Read the complete abstract on PubMed

Topics

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

Share to Alexander Disease
Share to Brain

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Glial Fibrillary Acidic Protein

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 35246666
DOI: 10.1038/s41431-022-01073-2
PMCID: PMC9178008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.PMID 35246666Read ↗

Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease.Semantic proximity Read ↗

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformSemantic proximity Read ↗

Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.Semantic proximity Read ↗

Two novel GFAP mutations and genotype-phenotype associations in Alexander diseaseSemantic proximity Read ↗

A systematic review and meta-analysis of GFAP gene variants in Alexander disease.Semantic proximity Read ↗

A novel GFAP mutation in a type II (late-onset) Alexander disease patient.Semantic proximity Read ↗

A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.Semantic proximity Read ↗

[Clinical characteristics and diagnostic criteria on Alexander disease].Semantic proximity Read ↗

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.Semantic proximity Read ↗

Alexander Disease: A Literature Review for Clinicians.Semantic proximity Read ↗

Alexander Disease: Screening and<i>in silico</i>functional characterization of variants on candidate geneSemantic proximity Read ↗

Aggregate formation analysis of GFAPR416W found in one case of Alexander disease.Semantic proximity Read ↗

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