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Article

Novel deletion mutation in GFAP gene in an infantile form of Alexander disease.

Pediatric neurology - 1 Jan 2008

Murakami Nobuyuki, Tsuchiya Takayoshi, Kanazawa Naomi, Tsujino Seiichi, Nagai Toshiro

Abstract excerpt

Alexander disease is a rare, fatal neurologic disorder characterized by white-matter degeneration and cytoplasmic inclusions in astrocytes known as Rosenthal fibers, which are immunohistochemically positive to glial fibrillary acidic protein. Mutations in the glial fibrillary acidic protein gene were reported in patients with Alexander disease who had clinical and pathologic characteristics of the disease. All...

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Source

Identifiers

PMID: 18054694
DOI: 10.1016/j.pediatrneurol.2007.08.017

Genes

GFAP

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

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Novel deletion mutation in GFAP gene in an infantile form of Alexander disease.PMID 18054694Read ↗

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GFAP mutations in Alexander disease.Semantic proximity Read ↗

A novel mutation in the GFAP gene in a familial adult onset Alexander disease.Semantic proximity Read ↗

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.Semantic proximity Read ↗

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.Semantic proximity Read ↗

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

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

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

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

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 ↗

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

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