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Article

An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP.

Brain & development - 1 Mar 2006

Asahina Naoko, Okamoto Takayuki, Sudo Akira, Kanazawa Naomi, Tsujino Seiichi, Saitoh Shinji

Abstract excerpt

Alexander disease is a degenerative white matter disorder due to mutations in the glial fibrillary acidic protein (GFAP) gene. It has been classified into three forms based on the age of onset and severity: an infantile, a juvenile, and an adult form. In a 6-year-old patient with a relatively mild form of Alexander disease, we detected a common R79H mutation in GFAP, previously only described in the infantile...

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Identifiers

PMID: 16168593
DOI: 10.1016/j.braindev.2005.05.004

Genes

GFAP

Provenance

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Related research

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An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP.PMID 16168593Read ↗

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

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

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Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.Semantic proximity Read ↗

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