A novel GFAP mutation in a type II (late-onset) Alexander disease patient

Paiva, Anderson Rodrigues Brandão de; Freua, Fernando; Lucato, Leandro Tavares; Parmera, Jacy Bezerra; Doria, Denise; Nóbrega, Paulo Ribeiro; Olávio, Thiago Rosa; Macedo‐Souza, Lúcia Inês; Kok, Fernando

doi:10.1007/s00415-016-8065-8

Cited by 3 publications

(2 citation statements)

References 4 publications

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“…And finally, astrocytes are known to extend their processes and migrate to the wound region after traumatic injury, and this process affects the recovery. 27 In vitro scratch assay is used as a method for assessing cell migration 28 and was reported to be applicable for primary astrocytes. 29 Therefore, we tried to investigate whether the scratch assay is applicable to iPSC-derived astrocytes or not.…”

Section: Astrocytic Multifunction Of Ipsc-derived Astrocytesmentioning

confidence: 99%

Induced pluripotent stem cell‐based assays recapture multiple properties of human astrocytes

Nonaka,

Kondo,

Suga

et al. 2024

J Cellular Molecular Medi

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The majority of the population of glial cells in the central nervous system consists of astrocytes, and impairment of astrocytes causes various disorders. It is useful to assess the multiple astrocytic properties in order to understand their complex roles in the pathophysiology. Although we can differentiate human astrocytes from induced pluripotent stem cells (iPSCs), it remains unknown how we can analyse and reveal the multiple properties of astrocytes in complexed human disease conditions. For this purpose, we tested astrocytic differentiation protocols from feeder‐free iPSCs based on the previous method with some modifications. Then, we set up extra‐ and intracellular assessments of iPSC‐derived astrocytes by testing cytokine release, calcium influx, autophagy induction and migration. The results led us to analytic methods with conditions in which iPSC‐derived astrocytes behave as in vivo. Finally, we applied these methods for modelling an astrocyte‐related disease, Alexander disease. An analytic system using iPSC‐derived astrocytes could be used to recapture complexities in human astrocyte diseases.

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Section: Astrocytic Multifunction Of Ipsc-derived Astrocytesmentioning

confidence: 99%

Induced pluripotent stem cell‐based assays recapture multiple properties of human astrocytes

Nonaka,

Kondo,

Suga

et al. 2024

J Cellular Molecular Medi

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“…Identificamos uma paciente com doença de Alexander do adulto (Paiva et al, 2016). (p.Tyr494*), que é relacionado à síndrome de Gordon-Holmes.…”

Section: Doença De Alexanderunclassified

Leucodistrofias e leucoencefalopatias genéticas em adultos: caracterização clínica, molecular e de neuroimagem

Paiva¹

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C-Endereços eletrônicos dos artigos científicos relacionados a esta tese publicados em revistas indexadas 10.4 Apêndice D-Imaging of adult leukodystrophies. Arq Neuropsiquiatr 2014 10.5 Apêndice E-Leukodystrophy with premature ovarian failure: think on white matter disease. Arq Neuropsiquiatr 2015 10.6 Apêndice F-A novel GFAP mutation in a type II (late-onset) Alexander disease patient. J Neurol 2016 10.7 Apêndice G-Clinical and genetic characterization of leukoencephalopathies in adults. Brain 2017 10.8 Apêndice H-When multiple sclerosis and X-linked adrenoleukodystrophy are tangled. Neurol Clin Pract 2018 10.9 Apêndice I-Typical clinical and neuroimaging features in Sjögren-Larsson syndrome. Arq Neuropsiquiatr 2018 10.10 Apêndice J-A novel complex neurological phenotype due to a homozygous mutation in FDX2. Brain 2018 10.11 Apêndice K-Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.

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Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing

et al. 2022

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Background Alexander disease (AxD) is a rare leukodystrophy with an autosomal dominant inheritance mode. Variants in GFAP lead to this disorder and it is classified into three distinguishable subgroups: infantile, juvenile, and adult-onset types. Objective The aim of this study is to report a novel variant causing AxD and collect all the associated variants with juvenile and adult-onset as well. Methods We report a 2-year-old female with infantile AxD. All relevant clinical and genetic data were evaluated. Search strategy for all AxD types was performed on PubMed. The extracted data include total recruited patients, number of patients carrying a GFAP variant, nucleotide and protein change, zygosity and all the clinical symptoms. Results A novel de novo variant c.217A > G: p. Met73Val was found in our case by whole-exome sequencing. In silico analysis categorized this variant as pathogenic. Totally 377 patients clinically diagnosed with juvenile or adult-onset forms were recruited in these articles, among them 212 patients were affected with juvenile or adult-onset form carrier of an alteration in GFAP. A total of 98 variants were collected. Among these variants c.262C > T 11/212 (5.18%), c.1246C > T 9/212 (4.24%), c.827G > T 8/212 (3.77%), c.232G > A 6/212 (2.83%) account for the majority of reported variants. Conclusion This study highlighted the role of genetic in AxD diagnosing. It also helps to provide more information in order to expand the genetic spectrum of Iranian patients with AxD. Our literature review is beneficial in defining a better genotype–phenotype correlation of AxD disorder.

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A novel GFAP mutation in a type II (late-onset) Alexander disease patient

Cited by 3 publications

References 4 publications

Induced pluripotent stem cell‐based assays recapture multiple properties of human astrocytes

Induced pluripotent stem cell‐based assays recapture multiple properties of human astrocytes

Leucodistrofias e leucoencefalopatias genéticas em adultos: caracterização clínica, molecular e de neuroimagem

Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing

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