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Article

Aggregate formation analysis of GFAPR416W found in one case of Alexander disease.

Brain & development - 1 Feb 2019

Tulyeu Janyerkye, Tamaura Moe, Jimbo Eriko, Shimbo Hiroko, Takano Kyoko, Iai Mizue, Yamashita Sumimasa, Goto Tomohide, Aida Noriko, Tokuhiro Etsuro, Yamagata Takanori, Osaka Hitoshi

Abstract excerpt

Alexander disease (AxD) is a neurodegenerative disease in astrocytes caused by a mutation in the gene encoding glial fibrillary acidic protein, GFAP. We herein present the case of a 12-year-old girl who showed intermittent exotropia at 3 years of age and central precocious puberty at 7 years of age. The periventricular and medulla oblongata showed high signal intensity on T2-weighted magnetic resonance imaging....

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PMID: 30213442
DOI: 10.1016/j.braindev.2018.08.009

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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.

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