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Article

Archetypal and new families with Alexander disease and novel mutations in GFAP.

Archives of neurology - 1 Feb 2012

Messing Albee, Li Rong, Naidu Sakkubai, Taylor J Paul, Silverman Lital, Flint Daniel, van der Knaap Marjo S, Brenner Michael

Abstract excerpt

OBJECTIVE: To describe genetic analyses of the 2 most thoroughly studied, historically seminal multigenerational families with Alexander disease described prior to the identification of GFAP as the related gene, as well as 1 newly discovered family. DESIGN: Clinical histories were obtained and DNA was analyzed from blood, cheek epithelial cells, or fixed paraffin-embedded surgical samples. SUBJECTS: Affected and...

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Source

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Identifiers

PMID: 21987397
DOI: 10.1001/archneurol.2011.1181
PMCID: PMC3574575

Genes

GFAP

Variants

Provenance

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Related research

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Archetypal and new families with Alexander disease and novel mutations in GFAP.PMID 21987397Read ↗

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Alexander disease genetics: Beyond GFAP exon sequencing?Semantic proximity Read ↗

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Alexander disease: GFAP mutations unify young and old.Semantic proximity Read ↗

Loss of<i>GFAP</i>causes optico-retinal dysplasia and vision impairmentSemantic proximity Read ↗

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformSemantic proximity Read ↗

Parkinsonism phenotype in a family with adult onset Alexander disease and a novel mutation of GFAP.Semantic proximity Read ↗

A systematic review and meta-analysis of GFAP gene variants in Alexander disease.Semantic proximity Read ↗

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.Semantic proximity Read ↗

GFAP mutations in Alexander disease.Semantic proximity Read ↗

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