ArticleBMC neurology2016
Atypical MRI features in familial adult onset Alexander disease: case report.
Article in BMC neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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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
7 citing papers in PubMed, 10 citations in OpenAlex.
- White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Self-silencingJournal of neurology, neurosurgery, and psychiatry · 2025Article
- "Frog face and strangulated medulla": neuroimaging phenotype in a novel mutation in GFAP gene causing adult onset Alexander disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 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
- 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
- Does genetic anticipation occur in familial Alexander disease?Neurogenetics · 2021Article
- Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlexander disease (AxD) is a rare neurological disease, especially in adults. It shows variable clinical and radiological features. CASE PRESENTATION: We diagnosed a female with AxD presenting with paroxysmal numbness of the limbs at the onset age of 28-year-old, progressing gradually to spastic paraparesis at age 30. One year later, she had ataxia, bulbar paralysis, bowel and bladder urgency. Her mother had a similar neurological symptoms and died within 2 years after onset (at the age of 47), and her maternal aunt also had similar but mild symptoms at the onset age of 54-year-old. Her brain magnetic resonance imaging (MRI) showed abnormal signals in periventricular white matter with severe atrophy in the medulla oblongata and thoracic spinal cord, and mild atrophy in cervical spinal cord, which is unusual in the adult form of AxD. She and her daughter's glial fibrillary acidic protein (GFAP) gene analysis revealed the same heterozygous missense mutation, c.1246C > T, p.R416W, despite of no neurological symptoms in her daughter.
conclusionsOur case report enriches the understanding of the familial adult AxD. Genetic analysis is necessary when patients have the above mentioned symptoms and signs, MRI findings, especially with family history.
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