Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene
- 28 May 2002
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 58 (10) , 1541-1543
- https://doi.org/10.1212/wnl.58.10.1541
Abstract
Early-onset (infantile) Alexander disease is associated with mutations in the glial fibrillary acidic protein (GFAP) gene and two hot spots correlate to the severe phenotype. No molecular mechanisms have been elucidated in late-onset (juvenile) Alexander disease. The authors report a novel GFAP mutation in a patient with juvenile Alexander disease. The authors discuss similar molecular mechanisms in another intermediate filament disease and propose a possible molecular pathogenesis in juvenile Alexander disease.Keywords
This publication has 11 references indexed in Scilit:
- Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype CorrelationAmerican Journal of Human Genetics, 2001
- A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander diseaseNeuroscience Letters, 2001
- Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysisJournal of Human Genetics, 2001
- Alexander Disease: New Insights From GeneticsJournal of Neuropathology and Experimental Neurology, 2001
- Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander diseaseNature Genetics, 2001
- The intermediate filament protein consensus motif of helix 2B: its atomic structure and contribution to assemblyJournal of Molecular Biology, 2000
- Positron emission tomography in juvenile Alexander diseaseJournal of the Neurological Sciences, 1999
- A Novel Glutamic Acid to Aspartic Acid Mutation Near the End of the 2B Rod Domain in the Keratin 1 Chain in Epidermolytic HyperkeratosisJournal of Investigative Dermatology, 1999
- A Novel Glutamic Acid to Aspartic Acid Mutation Near the End of the 2B Rod Domain in the Keratin 1 Chain in Epidermolytic HyperkeratosisJournal of Investigative Dermatology, 1999
- Accumulation of αB-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5′-flanking and coding sequence of the genomic DNANeuroscience Letters, 1992