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1.
Chinese Journal of Neurology ; (12): 649-654, 2021.
Artigo em Chinês | WPRIM | ID: wpr-911772

RESUMO

Objective:To report the clinical and genetic features of a pedigree with familial encephalopathy with neuroserpin inclusions bodies (FENIB) and to enhance the understanding of the disease.Methods:The proband was admitted to Department of Neurology, Henan Provincial People′s Hospital in June 2020 due to cognitive impairment and epilepsy. Detailed medical history inquiry, physical examinations, and neuroimaging examination of the family were conducted. The proband completed the examination of brain magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebrospinal fluid examinations. Whole exome sequencing and Sanger sequencing were used to screen the genetic variations in the proband. Sanger sequencing was performed in some family members to verify the mutation. Through literature review, the characteristics of the disease were summarized.Results:The proband was a 23-year-old young female with progressive cognitive impairment, epilepsy as the main manifestations. Brain MRI indicated moderate atrophy of bilateral cerebral cortex. Genetic sequencing revealed a heterozygous missense mutation (c.1013A>G; p.H338R) of SERPINI1 gene encoding the neuroserine protease inhibitor protein. The proband′s mother and brother had similar clinical symptoms in adolescence. Both of them passed away several years later. This mutation was a proven pathogenic mutation for FENIB. The clinical phenotype was consistent within the family. Genotype and clinical phenotype were co-segregated.Conclusion:FENIB due to SERPINI1 gene mutations should be considered in young cases of cognitive decline, epilepsy and myoclonus.

2.
Journal of Zhejiang University. Science. B ; (12): 735-738, 2018.
Artigo em Inglês | WPRIM | ID: wpr-1010412

RESUMO

Neurological injury is a frequent and important complication of coronary artery bypass grafting (CABG). Several risk factors for this type of sequela have been identified, among them aortic arch atherosclerosis. Our previous study indicated that atherosclerotic burden in coronary arteries may likewise predict postoperative neurological complications (Pawliszak et al., 2016b). We assessed the severity of this condition by using the SYNTAX score calculator. However, diagnosing angiographic three-vessel coronary artery disease (3VD) could be an even simpler method of achieving this goal.


Assuntos
Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Angiografia Coronária , Ponte de Artéria Coronária sem Circulação Extracorpórea/efeitos adversos , Doença da Artéria Coronariana/cirurgia , Proteína Glial Fibrilar Ácida/sangue , Proteínas de Neurofilamentos/sangue , Neuropeptídeos/sangue , Fosforilação , Estudos Prospectivos , Serpinas/sangue , Neuroserpina
3.
Biol. Res ; 45(4): 357-362, 2012. ilus
Artigo em Inglês | LILACS | ID: lil-668686

RESUMO

Hypoxia-ischemia (HI) occurring in immature brains stimulates the expression of tissue-type plasminogen activator (tPA). Neuroserpin is a selected inhibitor of tPA in the central nerves system. However, the role that neuroserpin plays and the possible mechanisms involved during neonatal HI are poorly defined. In this study, an oxygen-glucose deprivation and reoxygenation (OGD/R) model was generated with cultured rat cortical neurons mimicking neonatal HI injury ex vivo, and an acute neuronal excitatory injury was induced by exposure to a high concentration of N-methyl-D-aspartic acid (NMDA). Cells received either neuroserpin or MK-801, an antagonist of the NMDA receptor, during OGD/R, and were incubated with or without neuroserpin after NMDA exposure. Cell viability and morphology were detected by a Cell Counting Kit-8 and immunohistochemical staining, respectively. TPA expression and activity were also assessed. We found that MK-801 alleviated injuries induced by OGD/R, suggesting an excitatory damage involvement. Neuroserpin provided a dose-dependent neuroprotective effect in both OGD/R and acute excitatory injuries by inhibiting the activity of tPA, without affecting neuronal tPA expression. Neuroserpin protected neurons against OGD/R even after a delayed administration of 3h. Collectively, our data indicate that neuroserpin protects neurons against OGD/R. mainly by inhibiting tPA-mediated acute neuronal excitotoxicity.


Assuntos
Animais , Feminino , Gravidez , Ratos , Hipóxia-Isquemia Encefálica/tratamento farmacológico , Neuropeptídeos/uso terapêutico , Fármacos Neuroprotetores/uso terapêutico , Serpinas/uso terapêutico , Ativador de Plasminogênio Tecidual/antagonistas & inibidores , Animais Recém-Nascidos , Sobrevivência Celular , Maleato de Dizocilpina/farmacologia , Hipóxia-Isquemia Encefálica/etiologia , Imuno-Histoquímica , N-Metilaspartato , Neurônios/efeitos dos fármacos , Neurônios/patologia , Ratos Sprague-Dawley , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa
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