GuidelineJournal of neurology2011
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Guideline in Journal of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
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Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 112 citations in OpenAlex.
- A systematic review and meta-analysis of GFAP gene variants in Alexander disease.Scientific reports · 2024Pooled it
- Behavioral characterization of bulbar sensorimotor function in a rat model of Alexander disease.Behavioural brain research · 2026Article
- Progressive gait and motor deficits in a rat model of Alexander disease.Behavioural brain research · 2026Article
- Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease.Annals of clinical and translational neurology · 2026Article
- Language Skills in Patients With Alexander Disease.American journal of speech-language pathology · 2026Article
- Risk of Seizures and Epilepsy in the Leukodystrophies.Pediatric neurology · 2026Article
- Progressive Spastic Paraparesis as the Dominant Manifestation of Adolescent-Onset Alexander Disease: Case Report and Literature Review.Journal of clinical medicine · 2025Article
- Diagnosing Alexander disease in adults.Practical neurology · 2025Review
- Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.Journal of clinical medicine · 2025Article
- Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- Genotype-Phenotype Association for 14Neurology. Genetics · 2025Article
- Case report: Co-occurrence of Wilson's and Alexander's diseases revealed by genetic analysis.Frontiers in neurology · 2025Article
- Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population.NPJ genomic medicine · 2024Article
- Establishment and Use of Primary Cultured Astrocytes from Alexander Disease Model Mice.International journal of molecular sciences · 2024Article
- Plasma concentrations of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- A retrospective observational cohort study of the anesthetic management and outcomes of pediatric patients with Alexander disease undergoing lumbar puncture or magnetic resonance imaging.Paediatric anaesthesia · 2024Observational
- Article
- Quantitative diffusion imaging and genotype-by-sex interactions in a rat model of Alexander disease.Magnetic resonance in medicine · 2024Article
- Microglia sense astrocyte dysfunction and prevent disease progression in an Alexander disease model.Brain : a journal of neurology · 2024Article
- Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease.Frontiers in neurology · 2024Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alexander disease (AxD) is a rare neurodegenerative disorder characterized by white matter degeneration and formation of cytoplasmic inclusions. Glial fibrillary acidic protein (GFAP) mutations have been reported in various forms of AxD since 2001. However, a definitive diagnosis remains difficult because of uncertain prevalence, and different clinical features seen in infantile AxD and adult AxD may lead to confusion and misdiagnosis. Here we report an epidemiological study conducted in Japan. Two nationwide questionnaire-based surveys were conducted using tentative diagnostic criteria. We gathered information regarding prevalence, neurological findings, magnetic resonance imaging (MRI) findings, electrophysiological findings, genetic information, and the results of therapeutic interventions and home care. Prevalence of various forms of AxD was determined as 27.3% (infantile), 24.2% (juvenile), and 48.5% (adult). Prevalence of AxD in Japan was estimated to be approximately 1 case per 2.7 million individuals. The main characteristics of infantile and juvenile AxD include delayed psychomotor development or mental retardation, convulsions, macrocephaly, and predominant cerebral white matter abnormalities in the frontal lobe on brain MRI. The main characteristics of adult AxD include bulbar signs, muscle weakness with hyperreflexia, and signal abnormalities and/or atrophy of medulla oblongata and cervical spinal cord on MRI. To ensure correct diagnosis of AxD, the physician should understand the importance of the process of GFAP genetic testing, which provides definitive diagnosis. Therefore, we propose new clinical guidelines for diagnosing AxD based on simplified classifications: cerebral AxD (type 1), bulbospinal AxD (type 2), and intermediate form (type 3).
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