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Article

Adult-onset Alexander disease : report on a family.

Journal of neurology - 1 Jan 2008

Balbi Pietro, Seri Marco, Ceccherini Isabella, Uggetti Carla, Casale Roberto, Fundarò Cira, Caroli Francesco, Santoro Lucio

Abstract excerpt

Pathogenic, dominant, de novo missense mutations in the glial fibrillary acidic protein (GFAP) have been found in the three subtypes of infantile, juvenile and adult Alexander disease. Here we describe four members of an Italian family (32 to 66-yearsold, 2 women and 2 men) affected by adult Alexander disease, the least common and the most clinically variable form. Direct sequencing of all coding regions of the...

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Source

Identifiers

PMID: 18004641
DOI: 10.1007/s00415-007-0654-0

Genes

GFAP

Provenance

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Related research

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Adult-onset Alexander disease : report on a family.PMID 18004641Read ↗

Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.Semantic proximity Read ↗

A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?Semantic proximity Read ↗

The clinical spectrum of late-onset Alexander disease: a systematic literature review.Semantic proximity Read ↗

A novel mutation in the GFAP gene in a familial adult onset Alexander disease.Semantic proximity Read ↗

An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.Semantic proximity Read ↗

A novel GFAP mutation in a type II (late-onset) Alexander disease patient.Semantic proximity Read ↗

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.Semantic proximity Read ↗

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

GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant.Semantic proximity Read ↗

Substitution of Glu to Lys at Codon 332 on the GFAP Gene Alone Is Causative for Adult-onset Alexander Disease.Semantic proximity Read ↗

Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor.Semantic proximity Read ↗

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