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 case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.

Journal of Korean medical science - 1 Oct 2006

Lee Jung Mu, Kim Ae Suk, Lee Sun Ju, Cho Sung Min, Lee Dong Seok, Choi Sung Min, Kim Doo Kwun, Ki Chang Seok, Kim Jong Won

Abstract excerpt

Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death...

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 Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GFAP gene

Share to Glial Fibrillary Acidic Protein

Share to Infant

Share to Magnetic Resonance Imaging

Share to Mutation

Share to Spasms, Infantile

Source

Open in PubMed Open full text

Identifiers

PMID: 17043438
DOI: 10.3346/jkms.2006.21.5.954
PMCID: PMC2722014

Genes

GFAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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 case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.PMID 17043438Read ↗

Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.Semantic proximity Read ↗

Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients.Semantic proximity Read ↗

Clinical and genetic study in Chinese patients with Alexander disease.Semantic proximity Read ↗

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

Clinical characteristics of Alexander disease.Semantic proximity Read ↗

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

GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant.Semantic proximity Read ↗

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.Semantic proximity Read ↗

Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.Semantic proximity Read ↗

Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis.Semantic proximity Read ↗

Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.Semantic proximity Read ↗

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.Semantic proximity Read ↗

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