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Article

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.

Journal of the neurological sciences - 15 Oct 2004

Shiihara Takashi, Sawaishi Yukio, Adachi Michito, Kato Mitsuhiro, Hayasaka Kiyoshi

Abstract excerpt

We report on a family with dominantly inherited asymptomatic Alexander's disease due to a novel Glial fibrillary acidic protein (GFAP) mutation. The proband, a 16-month-old boy, presented with megalocephaly and brain magnetic resonance imaging (MRI) showing the typical findings of Alexander's disease. Molecular analysis showed that he was a heterozygote of the L331P mutation of GFAP. His mother and sister,...

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Source

Identifiers

PMID: 15465095
DOI: 10.1016/j.jns.2004.07.008

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.

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