Recessively‐Inherited Adult‐Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders"
DOI: 10.1002/mds.28099
Abstract: Alexander disease (AxD) is an autosomal‐dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene. read more here.
Keywords: alexander disease; recessively inherited; gfap gene;
Modeling Alexander disease with patient IPSCS reveals cellular and molecular pathology of astrocytes
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.08.3751
Abstract: Alexander disease is a fatal neurological illness characterized by white-matter degeneration and formation of Rosenthal fibers, which contain glial fibrillary acidic protein as astrocytic inclusion. Alexander disease is mainly caused by a gene mutation encoding… read more here.
Keywords: alexander disease; disease patient; pathology;
A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.28
Abstract: Alexander disease (AxD) is a rare hereditary neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations, most of which are missense mutations. We present an AxD case with a novel de novo three-base… read more here.
Keywords: three base; base duplication; alexander disease;
Tissue and cellular rigidity and mechanosensitive signaling activation in Alexander disease
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DOI: 10.1038/s41467-018-04269-7
Abstract: Glial cells have increasingly been implicated as active participants in the pathogenesis of neurological diseases, but critical pathways and mechanisms controlling glial function and secondary non-cell autonomous neuronal injury remain incompletely defined. Here we use… read more here.
Keywords: mechanosensitive signaling; alexander disease; disease; tissue cellular ... See more keywords
Developmental Profiles in Children and Young Adults with Alexander Disease
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DOI: 10.1080/17518423.2023.2209834
Abstract: ABSTRACT Purpose The study aims to describe the developmental profile of children and young adults with Alexander disease [AxD] infantile form, analyzing their clinical features, adaptive behavior and neuropsychological skills. Methods Participants were eight children… read more here.
Keywords: developmental profile; adults alexander; alexander disease; young adults ... See more keywords
Identification of association fibers using ex vivo diffusion tractography in Alexander disease brains
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DOI: 10.1111/jon.13040
Abstract: Alexander disease (AxD) is a neurodegenerative disorder caused by heterozygous Glial Fibrillary Acidic Protein mutation. The characteristic structural findings of AxD, such as leukodystrophic features, are well known, while association fibers of AxD remain uninvestigated.… read more here.
Keywords: association fibers; using vivo; vivo diffusion; alexander disease ... See more keywords
Diagnostic features of type II fibrinoid leukodystrophy (Alexander disease) in a juvenile Beagle dog
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Veterinary Internal Medicine"
DOI: 10.1111/jvim.16655
Abstract: Abstract A 3‐month‐old female entire Beagle presented with a progressive history of caudotentorial encephalopathy. Reactive encephalopathies were ruled out and tests for the most common infectious diseases agents were negative. Magnetic resonance imaging of the… read more here.
Keywords: disease; fibrinoid leukodystrophy; beagle; alexander disease ... See more keywords
Refining the concept of GFAP toxicity in Alexander disease
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurodevelopmental Disorders"
DOI: 10.1186/s11689-019-9290-0
Abstract: Alexander disease is caused by dominantly acting mutations in glial fibrillary acidic protein (GFAP), the major intermediate filament of astrocytes in the central nervous system. In addition to the sequence variants that represent the origin… read more here.
Keywords: gfap toxicity; alexander disease; gfap;
Pexidartinib treatment in Alexander disease model mice reduces macrophage numbers and increases glial fibrillary acidic protein levels, yet has minimal impact on other disease phenotypes
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neuroinflammation"
DOI: 10.1186/s12974-021-02118-x
Abstract: Background Alexander disease (AxD) is a rare neurodegenerative disorder that is caused by dominant mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament that is primarily expressed by astrocytes. In AxD,… read more here.
Keywords: protein; alexander disease; model mice; disease ... See more keywords
The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease
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DOI: 10.1186/s40478-017-0425-9
Abstract: Rosenthal fibers (RFs) are cytoplasmic, proteinaceous aggregates. They are the pathognomonic feature of the astrocyte pathology in Alexander Disease (AxD), a neurodegenerative disorder caused by heterozygous mutations in the GFAP gene, encoding glial fibrillary acidic… read more here.
Keywords: rosenthal fibers; alexander disease; pathology; rfs ... See more keywords
Teaching NeuroImages: Neuroimaging in Adult-Onset Alexander Disease
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DOI: 10.1212/wnl.0000000000010803
Abstract: A 35-year-old woman presented with gait disturbance, generalized stiffness, difficulty swallowing, and bladder incontinence for the past 3 years. Neurologic evaluation revealed brisk deep tendon reflexes in all 4 limbs and bilateral Hoffman signs. Her… read more here.
Keywords: onset alexander; alexander disease; adult onset; alexander ... See more keywords