Acute disseminated encephalomyelitis: clinical features, HLA DRB1*1501, HLA DRB1*1503, HLA DQA1*0102, HLA DQB1*0602, and HLA DPA1*0301 allelic association study

Alves-Leon, Soniza Vieira; Veluttini-Pimentel, Maria Lucia; Gouveia, Maria Emmerick; Malfetano, Fabíola Rachid; Gaspareto, Emerson L.; Alvarenga, Marcos Papais; Frugulhetti, Izabel; Quirico-Santos, Thereza

doi:10.1590/s0004-282x2009000400013

Cited by 26 publications

(9 citation statements)

References 30 publications

(76 reference statements)

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“…Multiple human leukocyte antigen (HLA) alleles have been found to occur at a higher frequency in patients with ADEM, including HLA-DRB1*1501, HLA-DRB5*0101, HLA-DRBQ*1503, HLA-DQA1*0102, HLA-DQB1*0602, HLA-DRB1*01, HLA-DRB*03, and HLA-DPA1*0301. 17,98,99 The exact frequency of expression of these alleles and their future clinical utility in ADEM is currently unknown.…”

Section: Immunopathogenesismentioning

confidence: 99%

The Magnetic Resonance Imaging Appearance of Monophasic Acute Disseminated Encephalomyelitis

Marin

Callen

2013

Neuroimaging Clinics of North America

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Acute disseminated encephalomyelitis (ADEM) is an immunologically mediated inflammatory disease of the central nervous system that typically occurs after a viral infection or recent vaccination, and is most commonly seen in the pediatric population. In 2007 the International Pediatric Multiple Sclerosis Study Group proposed a consensus definition for ADEM for application in research and clinical settings. This article gives an overview of ADEM in children, focusing on differences that have emerged since the consensus definition was established. Although the focus is on neuroimaging in these patients, a synopsis of the clinical features, immunopathogenesis, treatment, and prognosis of ADEM is provided.

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Section: Immunopathogenesismentioning

confidence: 99%

The Magnetic Resonance Imaging Appearance of Monophasic Acute Disseminated Encephalomyelitis

Marin

Callen

2013

Neuroimaging Clinics of North America

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“…Down regulated genes were enriched in various pathways. Enriched genes such as MAOA (monoamine oxidase A) [97], TGFB3 [98], CEBPD (CCAAT enhancer binding protein delta) [99], NDRG2 [100], SLC11A1 [101], HDAC1 [102], TYROBP (TYRO protein tyrosine kinase binding protein) [103], ALOX5 [104], DOCK2 [105], OLR1 [106], CD14 [107], CD44 [108], CD68 [109], ITPKB (inositol-trisphosphate 3-kinase B) [110], WAS (Wiskott-Aldrich syndrome) [111], CD86 [112] and CD74 [113] were linked with development of Alzheimer’s disease, but these genes may be involved in progression of sCJD. HLA-DPA1 was involved in progression of acute disseminated encephalomyelitis [114], but this gene may be important for development of sCJD.…”

Section: Discussionmentioning

confidence: 99%

Identification of potential key genes and pathway linked with sporadic Creutzfeldt-Jakob disease based on integrated bioinformatics analyses

Vastrad¹,

Vastrad²,

Kotturshetti³

2020

Preprint

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Sporadic Creutzfeldt-Jakob disease (sCJD) is neurodegenerative disease also called prion disease linked with poor prognosis. The aim of the current study was to illuminate the underlying molecular mechanisms of sCJD. The mRNA microarray dataset GSE124571 was downloaded from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) were screened. Pathway and GO enrichment analyses of DEGs were performed. Furthermore, the protein-protein interaction (PPI) network was predicted using the IntAct Molecular Interaction Database and visualized with Cytoscape software. In addition, hub genes and important modules were selected based on the network. Finally, we constructed target genes - miRNA regulatory network and target genes - TF regulatory network. Hub genes were validated. A total of 891 DEGs 448 of these DEGs presented significant up regulated, and the remaining 443 down regulated were obtained. Pathway enrichment analysis indicated that up regulated genes were mainly linked with glutamine degradation/glutamate biosynthesis, while the down regulated genes were involved in melatonin degradation. GO enrichment analyses indicated that up regulated genes were mainly linked with chemical synaptic transmission, while the down regulated genes were involved in regulation of immune system process. hub and target genes were selected from the PPI network, modules, and target genes - miRNA regulatory network and target genes - TF regulatory network namely YWHAZ, GABARAPL1, EZR, CEBPA, HSPB8, TUBB2A and CDK14. The current study sheds light on the molecular mechanisms of sCJD and may provide molecular targets and diagnostic biomarkers for sCJD.

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“…Simetrik tutulum daha çok talamus ve bazal ganglionlar düzeyinde izlenir. Bilateral simetrik beyaz cevher lezyonları da rapor edilmiştir (3,14). Bu durumda ayırıcı tanıda lokodistrofiler akla gelmelidir (15).…”

Section: Discussionunclassified

Supratentorial MRG Bulguları Serebral Adrenolökodistrofiye Benzeyen ADEM Olgusu

Beyazal

Ünal

Yılmaz

et al. 2014

npa

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A 9-year-old male admitted for syncope also had the complains of pain and numbness in his legs and frequent falling down. There was a history of upper respiratory tract infection 10 days before. On neurologic examination, paraparesia and fall a sleep were identified. On magnetic resonance imaging, the symetric signal increases were seen in biparieto-occipital white matter intented to corpus callosum at T2-weighted sequences and cytotoxic edema was seen at diffusion-weighted images. Heterogeneous contrast enhancement was seen on these areas. In addition, at the C7-Th5 vertebrae levels, spinal cord had diffuse increased signal intensity and contrast enhancement. Acute disseminated encephalomyelitis was thought based on clinical and radiological findings. Steroid therapy was started. Significant improvement was shown after treatment. On 2-year follow-up, there was no recurrence. In conclusion, it must be kept in mind that acute disseminated encephalomyelitis can rarely present with biparieto-occipital involvement which extends to corpus callosum and can mimic adrenoleukodystrophy. For the differential diagnosis butterfly glioma, tumefactive demyelinating lesions or multiple sclerosis should be considered.

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Acute disseminated encephalomyelitis: clinical features, HLA DRB11501, HLA DRB11503, HLA DQA10102, HLA DQB10602, and HLA DPA1*0301 allelic association study

Cited by 26 publications

References 30 publications

The Magnetic Resonance Imaging Appearance of Monophasic Acute Disseminated Encephalomyelitis

The Magnetic Resonance Imaging Appearance of Monophasic Acute Disseminated Encephalomyelitis

Identification of potential key genes and pathway linked with sporadic Creutzfeldt-Jakob disease based on integrated bioinformatics analyses

Supratentorial MRG Bulguları Serebral Adrenolökodistrofiye Benzeyen ADEM Olgusu

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