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Article

Alexander disease with periventricular calcification: a novel mutation of the GFAP gene.

Developmental medicine and child neurology - 1 Dec 2010

Jefferson Rosalind J, Absoud Michael, Jain Rakesh, Livingston John H, VAN DER Knaap Marjo S, Jayawant Sandeep

Abstract excerpt

Alexander disease is a rare neurodegenerative leucoencephalopathy caused by de novo mutations in the GFAP gene. Infantile, juvenile, and adult subtypes have been described and the clinical and radiological phenotypes are broad. Here we report on a single case of juvenile-onset Alexander disease a...

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Source

Identifiers

PMID: 20964669
DOI: 10.1111/j.1469-8749.2010.03784.x

Genes

GFAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20964669-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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