ArticleAmerican journal of human genetics2001
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 41 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 150 citations in OpenAlex.
- Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.Journal of neurology · 2011Guideline
- Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.Molecular genetics and metabolism · 2026Article
- Alexander's Disease: Potential Drug Targets and Future Directions.Molecular neurobiology · 2025Review
- Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.Journal of clinical medicine · 2025Article
- Response to amoxicillin and perampanel in infantile Alexander disease.Epilepsia open · 2024Article
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Fetal-onset Alexander disease with radiological-neuropathological correlation.Pediatric radiology · 2023Article
- Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.European journal of medical research · 2022Review
- Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report.BMC pediatrics · 2022Article
- Case report: Alexander's disease with "head drop" as the main symptom and literature review.Frontiers in neurology · 2022Article
- Parental Somatic Mosaicism Uncovers Inheritance of an ApparentlyFrontiers in genetics · 2021Article
- Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.Frontiers in chemistry · 2021Article
- Epigenomic programming in early fetal brain development.Epigenomics · 2020Article
- All in Your Mind? New-Onset Dysphagia in a Previously Healthy Adolescent Child.Journal of pediatric intensive care · 2020Article
- Refining the concept of GFAP toxicity in Alexander disease.Journal of neurodevelopmental disorders · 2019Review
- Infantile Alexander Disease: Case Report and Review of Literature.Journal of clinical and diagnostic research : JCDR · 2017Article
- HIV-1 Tat Induces Unfolded Protein Response and Endoplasmic Reticulum Stress in Astrocytes and Causes Neurotoxicity through Glial Fibrillary Acidic Protein (GFAP) Activation and Aggregation.The Journal of biological chemistry · 2016Article
- Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2016Article
- A New Outlook on Mental Illnesses: Glial Involvement Beyond the Glue.Frontiers in cellular neuroscience · 2015Review
- Infantile onset alexander disease with normal head circumference: a genetically proven case report.Journal of clinical and diagnostic research : JCDR · 2014Article
Corrections and comments
- Erratum issued
Authors and funding
18 authors at 12 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene have recently been reported in 12 patients affected by neuropathologically proved Alexander disease. We searched for GFAP mutations in a series of patients who had heterogeneous clinical symptoms but were candidates for Alexander disease on the basis of suggestive neuroimaging abnormalities. Missense, heterozygous, de novo GFAP mutations were found in exons 1 or 4 for 14 of the 15 patients analyzed, including patients without macrocephaly. Nine patients carried arginine mutations (four had R79H; four had R239C; and one had R239H) that have been described elsewhere, whereas the other five had one of four novel mutations, of which two affect arginine (2R88C and 1R88S) and two affect nonarginine residues (1L76F and 1N77Y). All mutations were located in the rod domain of GFAP, and there is a correlation between clinical severity and the affected amino acid. These results confirm that GFAP mutations are a reliable molecular marker for the diagnosis of infantile Alexander disease, and they also form a basis for the recommendation of GFAP analysis for prenatal diagnosis to detect potential cases of germinal mosaicism.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.