Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua

Daniel J Bonthius; Bahri Karacay

doi:10.1177/0883073815624762

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Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua

Journal article

Peer reviewed

Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua

Daniel J Bonthius and Bahri Karacay

Journal of child neurology, Vol.31(7), pp.869-872

06/2016

DOI: 10.1177/0883073815624762

PMCID: PMC4865433

PMID: 26719496

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Abstract

Alexander disease is a genetically induced leukodystrophy, due to dominant mutations in the glial fibrillary acidic protein (GFAP ) gene, causing dysfunction of astrocytes. We have identified a novel GFAP mutation, associated with a novel phenotype for Alexander disease. A boy with global developmental delay and hypertonia was found to have a leukodystrophy. Genetic analysis revealed a heterozygous point mutation in exon 6 of the GFAP gene. The guanine-to-adenine change causes substitution of the normal glutamic acid codon (GAG) with a mutant lysine codon (AAG) at position 312 (E312 K mutation). At the age of 4 years, the child developed epilepsia partialis continua, consisting of unabating motor seizures involving the unilateral perioral muscles. Epilepsia partialis continua has not previously been reported in association with Alexander disease. Whether and how the E312 K mutation produces pathologic changes and clinical signs that are unique from other Alexander disease-inducing mutations in GFAP remain to be determined.

Glial Fibrillary Acidic Protein - genetics

Alexander Disease - complications

Brain - diagnostic imaging

Humans

Child, Preschool

Male

Epilepsia Partialis Continua - genetics

Phenotype

Alexander Disease - diagnostic imaging

Alexander Disease - physiopathology

Mutation

Alexander Disease - genetics

Epilepsia Partialis Continua - physiopathology

Epilepsia Partialis Continua - etiology

Epilepsia Partialis Continua - diagnostic imaging

Details

Title: Subtitle: Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua
Creators: Daniel J Bonthius - Division of Child Neurology, Department of Pediatrics, University of Iowa, Iowa City, IA, USA daniel-bonthius@uiowa.edu
Bahri Karacay - Division of Child Neurology, Department of Pediatrics, University of Iowa, Iowa City, IA, USA
Resource Type: Journal article
Publication Details: Journal of child neurology, Vol.31(7), pp.869-872
DOI: 10.1177/0883073815624762
PMID: 26719496
PMCID: PMC4865433
NLM abbreviation: J Child Neurol
ISSN: 0883-0738
eISSN: 1708-8283
Publisher: SAGE Publications; United States
Grant note: R21 NS052432 / NINDS NIH HHS
Language: English
Date published: 06/2016
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984065822202771

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