Results 11 to 20 of about 306,111 (180)
MRI diagnosis of Alexander disease
South African Journal of Radiology, 2012 Alexander disease (fibrinoid leucodystrophy; originally described by Alexander in 1949) is a rare, fatal, nonfamilial leucoencephalopathy caused by astrocyte dysfunction characterised by missense mutation in the genes coding for glial fibrillary acidic ...
C G Muralidharan +2 more
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Neuroimaging Features of Type II Alexander Disease
Pediatric Neurology Briefs, 2014 Investigators from Mayo Clinic, Rochester, MN, retrospectively identified 13 patients with type II Alexander disease (AxD) evaluated from Jan 1996 to Feb 2012.
J Gordon Millichap, John J Millichap
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Infantile-Onset Alexander Disease
Pediatric Neurology Briefs, 2012 Researchers at the All India Institute of Medical Sciences, New Delhi, India, and VU University Medical Center, Amsterdam report a 6-year-old Indian boy with infantile-onset Alexander disease having an unusually mild clinical course and a de novo ...
J Gordon Millichap
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Juvenile Alexander Disease: a Case Report
Eurasian Journal of Medicine, 2019 Alexander disease is a rare autosomal recessive disorder that is characterized by degeneration of the white matter in the central nervous system. Alexander disease is a leukodystrophy that is usually observed in early childhood but rarely in adults.
Halit Ozkaya +6 more
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Alexander Disease Without White Matter Lesions
Pediatric Neurology Briefs, 2006 Seven patients with atypical Alexander disease, showing signs of medulla and spinal cord involvement and little evidence of leukoencephalopathy, are reported from University Medical Center, Amsterdam, the Netherlands; and centers in the UK, USA, Canada ...
J Gordon Millichap
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Glial Protein Mutations in Alexander Disease
Pediatric Neurology Briefs, 2005 The role of glial fibrillary acidic protein (GFAP) mutations in Alexander disease was analyzed in 44 patients, including 18 with later onset, at the University of Alabama, Birmingham, AL, and at other centers in the US, UK and Europe.
J Gordon Millichap
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Molecular Diagnosis of Alexander Disease
Pediatric Neurology Briefs, 2002 The value of clinical and MRI criteria in the diagnosis of Alexander disease was determined by using GFAP gene sequencing as the confirmatory assay in 13 patients with variable ages of onset in a study at Children’s National Medical Center, Washington ...
J Gordon Millichap
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Basic and Clinical Neuroscience, 2022 Introduction: Alexander disease is a heterogeneous group of diseases with various manifestations based on the age of disease onset. This rare leukodystrophy syndrome with mutations in the GFAP gene could present with developmental delay and seizure in ...
Hedieh Arshiany +4 more
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Tissue and cellular rigidity and mechanosensitive signaling activation in Alexander disease
Nature Communications, 2018 Alexander disease is a rare neurodegeneration caused by mutations in a glial gene GFAP. Here, Wang and colleagues show in animal models of Alexander disease that GFAP mutant brain and cells have greater tissue and cellular stiffness and greater ...
Liqun Wang +9 more
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Journal of Integrated Health Sciences, 2023 Alexander disease is a rare nervous system disorder resulting from GFAP gene mutation, cause dysarthria in children to adults. A comprehensive language and speech including voice, articulation, and speech intelligibility assessment were carried out ...
Sarita Rautara, Himanshu Kant
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