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1.
Isr Med Assoc J ; 22(3): 178-184, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32147984

RESUMO

BACKGROUND: The authors reviewed the two most common current uses of brain 18F-labeled fluoro-2-deoxyglucose positron emission tomography (FDG-PET) at a large academic medical center. For epilepsy patients considering surgical management, FDG-PET can help localize epileptogenic lesions, discriminate between multiple or discordant EEG or MRI findings, and predict prognosis for post-surgical seizure control. In elderly patients with cognitive impairment, FDG-PET often demonstrates lobar-specific patterns of hypometabolism that suggest particular underlying neurodegenerative pathologies, such as Alzheimer's disease. FDG-PET of the brain can be a key diagnostic modality and contribute to improved patient care.


Assuntos
Encéfalo/diagnóstico por imagem , Demência/diagnóstico por imagem , Epilepsia/diagnóstico por imagem , Fluordesoxiglucose F18 , Tomografia por Emissão de Pósitrons/métodos , Encéfalo/patologia , Demência/patologia , Epilepsia/patologia , Humanos
2.
Zhonghua Er Ke Za Zhi ; 58(2): 118-122, 2020 Feb 02.
Artigo em Chinês | MEDLINE | ID: mdl-32102148

RESUMO

Objective: To summarize the clinical phenotypes of epilepsy in patients with GABRA1 gene variants. Methods: A total of 11 epileptic patients (4 boys and 7 girls) who were treated in the Department of Pediatrics, Peking University First Hospital from March 2016 to July 2019 and detected with GABRA1 gene heterozygous pathogenic variants by targeted next-generation sequencing were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed retrospectively. Results: A total of 11 epileptic patients carried GABRA1 gene pathogenic variants, of whom 10 were de novo variants and the other one was inherited from the patient's mother. Two patients had the same variants. Six variants were novel. Ages at seizure onset ranged from 3 to 14 months, and the median age was 8 months. The seizure was first observed within 1 year in 10 patients and beyond 1 year of age in 1 patient. Multiple seizure types were observed, including focal seizures in 10 patients, generalized tonic clonic seizures (GTCS) in 3 patients, myoclonic seizures in 3 patients, and epileptic spasm in 2 patients. There were 5 patients with multiple seizure types. Sensitivity to fever was observed in 9 patients, among whom 6 patients had a history of status epilepticus. Two patients had photoparoxysmal response. Five patients had abnormal EEG background, and 6 patients had abnormal discharges in EEG during interictal phase. Brain magnetic resonance imaging (MRI) was normal in all patients. Developmental delay in various degrees was present in 9 patients. Among the 11 patients, Dravet syndrome was diagnosed in 5 patients, West syndrome in 2 patients, undiagnosed early-onset epileptic encephalopathy in 1 patient, and focal epilepsy in the other 3 patients. The ages at the last follow-up ranged from 8 months to 12 years. During follow-up, 8 patients were seizure-free for 6 months to 8 years, and 1 patient had discontinuation of medication. Conclusions: In epilepsy associated with GABRA1 gene variants, de novo pathogenic variants are more common than inherited. Most epilepsy caused by GABRA1 gene variants occurs in infancy. Most patients have multiple seizures and focal seizures are common. Most patients have a comparatively favorable prognosis, but they may still have varied degrees of developmental delay.


Assuntos
Encéfalo/diagnóstico por imagem , Deficiências do Desenvolvimento/genética , Epilepsia/diagnóstico , Epilepsia/genética , Convulsões/etiologia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/etiologia , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Feminino , Humanos , Lactente , Masculino , Neuroimagem , Fenótipo , Receptores de GABA-A , Estudos Retrospectivos , Espasmos Infantis/diagnóstico
3.
PLoS Negl Trop Dis ; 13(12): e0007751, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31809501

RESUMO

In Africa, urbanization is happening faster than ever before which results in new implications for transmission of infectious diseases. For the zoonotic parasite Taenia solium, a major cause of acquired epilepsy in endemic countries, the prevalence in urban settings is unknown. The present study investigated epidemiological, neurological, and radiological characteristics of T. solium cysticercosis and taeniasis (TSCT) in people with epilepsy (PWE) living in Dar es Salaam, Tanzania, one of the fastest growing cities worldwide. A total of 302 PWE were recruited from six health centers in the Kinondoni district of Dar es Salaam. Serological testing for T. solium cysticercosis-antigen (Ag) and -antibodies (Abs) and for T. solium taeniasis-Abs was performed in all PWE. In addition, clinical and radiological examinations that included cranial computed tomography (CT) were performed. With questionnaires, demographic data from study populations were collected, and factors associated with TSCT were assessed. Follow-up examinations were conducted in PWE with TSCT. T. solium cysticercosis-Ag was detected in three (0.99%; 95% CI: 0-2.11%), -Abs in eight (2.65%; 95% CI: 0.84-4.46%), and taeniasis-Abs in five (1.66%; 95% CI: 0.22-3.09%) of 302 PWE. Six PWE (1.99%; 95% CI: 0.41-3.56%) were diagnosed with neurocysticercosis (NCC). This study demonstrates the presence of TSCT in Dar es Salaam, however, NCC was only associated with a few cases of epilepsy. The small fraction of PWE with cysticercosis- and taeniasis-Abs may suggest that active transmission of T. solium plays only a minor role in Dar es Salaam. A sufficiently powered risk analysis was hampered by the small number of PWE with TSCT; therefore, further studies are required to determine the exact routes of infection and risk behavior of affected individuals.


Assuntos
Cisticercose/complicações , Cisticercose/epidemiologia , Epilepsia/epidemiologia , Epilepsia/etiologia , Taenia solium/isolamento & purificação , População Urbana , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Animais , Criança , Cidades/epidemiologia , Cisticercose/diagnóstico por imagem , Cisticercose/patologia , Epilepsia/diagnóstico por imagem , Epilepsia/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Medição de Risco , Inquéritos e Questionários , Tanzânia/epidemiologia , Tomografia Computadorizada por Raios X , Adulto Jovem
4.
Zhonghua Er Ke Za Zhi ; 57(11): 844-851, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665838

RESUMO

Objective: To summarize the clinical and genetic characteristics of children with mitochondrial epilepsy. Methods: Clinical data of 62 children who were clinically and genetically diagnosed with mitochondrial epilepsy by the Department of Neurology, Beijing Children's Hospital from October 2011 to December 2018 were analyzed retrospectively, and the control of epilepsy was followed up. T test or χ(2) test were used to analyze the related factors affecting the prognosis of epilepsy between the effective group and the ineffective group. Results: Of the 62 patients, 33 were male and 29 were female. The age of onset was 3.38 (0-12.00) years; for the type of seizures, 68% (42/62) of the patients had focal seizures, generalized or secondary generalized tonic-clonic seizures were seen in 32% (20/62), myoclonic seizures in 23% (14/62), spastic seizures in 7 cases, tonic seizures in 4 cases, absence seizure, atonic seizure and clonic seizure in 1 case each; 16 cases (26%) had status epilepticus, of whom 6 cases had epilepsia partialis continua; 52% (32/62) had 2 or more types of seizures. The clinical phenotypes were mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in 29 cases, Leigh syndrome (LS) in 11 cases, combined oxidative phosphorylation deficiency in 6 cases, myoclonus epilepsy with ragged-red fibers in 5 cases, Alpers syndrome in 4 cases, pontocerebellar hypoplasia type 6 and mitochondrial DNA depletion syndrome 9 in 2 cases each, mitochondrial complex Ⅰ deficiency nuclear type 20, progressive cavitating leukoencephalopathy, and biotinidase deficiency in 1 case each. Of the 62 cases, 40 cases (65%) had mitochondrial DNA (mtDNA) variations, of which 26 cases had m.3243A>G variants, 6 cases had m.8344A>G variants, and 3 cases had m.8993T>G/C variants, m.3271T>C, m.3481G>A, m.3946G>A, m.13094T>C, m.14487T>C variant was in 1 case each; nuclear DNA (nDNA) variations were identified in 22 cases (35%), of which 7 cases carrying variations in mitochondrial ammonia acyl tRNA synthetase coding gene, mutations in POLG and the gene encoding complex Ⅰ were in 4 cases each, variations in SUCLG1 and SDHA genes were in 2 cases each, and variations in PDHA1, BTD and TRIT1 genes were in 1 case each. Forty-three patients were followed up, and the follow-up time was 20 (3-84) months. According to the follow-up results, the anti-epilepsy treatment was effective in 19 cases (44%) and ineffective in other 24 cases (56%). The onset age of the effective group was 3.42 (0-11.50) years and that of the ineffective group was 0.92 (0-9.50) years. The onset duration of the effective group was 0 (0-7.00) years and that of the ineffective group was 0 (0-4.83) years. There was no significant difference between the effective group and the ineffective group (t=1.662, 0.860; P=0.104, 0.395). In the effective group and the ineffective group, 12 cases and 9 cases used less than 2 kinds of antiepileptic drugs, 7 cases and 15 cases used more than or equal to 2 kinds of antiepileptic drugs, 13 and 15 cases had first epilepsy, 6 and 9 cases had non-first epilepsy, 14 and 11 cases had mtDNA variation, 5 and 13 cases had nDNA variation, respectively. There was no significant difference between the two groups (χ(2)=2.794, 0.164, 3.380; P=0.095, 0.686, 0.066). Conclusions: The types of seizures with mitochondrial epilepsy in children varied, with focal motor seizures being the most common, followed by generalized or secondary generalized tonic-clonic seizures. Most children have more than two types of seizures. MELAS is the most common clinical phenotype, followed by LS; mtDNA variation is the dominant gene variation, of which m.3243A>G variation is the most common hotspot variation, followed by gene variation encoding mitochondrial aminoacyl tRNA synthase.


Assuntos
Epilepsia/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Doenças Mitocondriais/diagnóstico por imagem , Anticonvulsivantes/uso terapêutico , Criança , Epilepsia/tratamento farmacológico , Epilepsia/genética , Feminino , Humanos , Masculino , Doenças Mitocondriais/genética , Fenótipo , Estudos Retrospectivos , Convulsões
7.
Pract Neurol ; 19(5): 438-443, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31420416

RESUMO

Brain imaging with MRI identifies structural cerebral pathology that may give rise to seizures. The greatest yield is from MRI at 3T using epilepsy protocols, and reported by expert neuroradiologists who possess the full clinical data. X-ray CT scanning has a role in assessing patients with seizures in the context of an acute neurological illness. Identifying a relevant structural lesion with MRI is fundamental in the consideration of epilepsy surgery; it is crucial to establish if a lesion is relevant to the epilepsy or not. If no lesion is identified, developmental MRI and image processing may identify a subtle abnormality. Positron-emission tomography (PET) and single-photon emission computed tomography (SPECT) may identify focal functional abnormalities that infer the location of an epileptic focus. Functional MRI is useful for localising eloquent cortex, and tractography delineates crucial white matter tracts, so that these may be avoided in epilepsy surgery. Reviewing data in three dimensions aids visualisation of structural relationships and helps surgical planning.


Assuntos
Encéfalo/diagnóstico por imagem , Epilepsia/diagnóstico por imagem , Epilepsia/fisiopatologia , Neuroimagem , Convulsões/fisiopatologia , Encéfalo/patologia , Encéfalo/fisiopatologia , Córtex Cerebral/patologia , Eletroencefalografia/métodos , Humanos , Imagem por Ressonância Magnética/métodos , Neuroimagem/métodos , Tomografia por Emissão de Pósitrons/métodos , Convulsões/diagnóstico por imagem , Convulsões/patologia , Tomografia Computadorizada de Emissão de Fóton Único/métodos
9.
Nat Rev Neurol ; 15(10): 594-606, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31341275

RESUMO

Candidates for epilepsy surgery must undergo presurgical evaluation to establish whether and how surgical treatment can stop seizures without causing neurological deficits. Various techniques, including MRI, PET, single-photon emission CT, video-EEG, magnetoencephalography and invasive EEG, aim to identify the diseased brain tissue and the involved network. Recent technical and methodological developments, encompassing both advances in existing techniques and new combinations of technologies, are enhancing the ability to define the optimal resection strategy. Multimodal interpretation and predictive computer models are expected to aid surgical planning and patient counselling, and multimodal intraoperative guidance is likely to increase surgical precision. In this Review, we discuss how the knowledge derived from these new approaches is challenging our way of thinking about surgery to stop focal seizures. In particular, we highlight the importance of looking beyond the EEG seizure onset zone and considering focal epilepsy as a brain network disease in which long-range connections need to be taken into account. We also explore how new diagnostic techniques are revealing essential information in the brain that was previously hidden from view.


Assuntos
Epilepsia/diagnóstico por imagem , Epilepsia/cirurgia , Cuidados Pré-Operatórios/tendências , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Encéfalo/cirurgia , Eletroencefalografia/métodos , Eletroencefalografia/tendências , Epilepsia/fisiopatologia , Humanos , Imagem por Ressonância Magnética/métodos , Imagem por Ressonância Magnética/tendências , Cuidados Pré-Operatórios/métodos
10.
PLoS Comput Biol ; 15(6): e1007051, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31242177

RESUMO

Studies to improve the efficacy of epilepsy surgery have focused on better refining the localization of the epileptogenic zone (EZ) with the aim of effectively resecting it. However, in a considerable number of patients, EZs are distributed across multiple brain regions and may involve eloquent areas that cannot be removed due to the risk of neurological complications. There is a clear need for developing alternative approaches to induce seizure relief, but minimal impact on normal brain functions. Here, we develop a personalized in-silico network approach, that suggests effective and safe surgical interventions for each patient. Based on the clinically identified EZ, we employ modularity analysis to identify target brain regions and fiber tracts involved in seizure propagation. We then construct and simulate a patient-specific brain network model comprising phenomenological neural mass models at the nodes, and patient-specific structural brain connectivity using the neuroinformatics platform The Virtual Brain (TVB), in order to evaluate effectiveness and safety of the target zones (TZs). In particular, we assess safety via electrical stimulation for pre- and post-surgical condition to quantify the impact on the signal transmission properties of the network. We demonstrate the existence of a large repertoire of efficient surgical interventions resulting in reduction of degree of seizure spread, but only a small subset of them proves safe. The identification of novel surgical interventions through modularity analysis and brain network simulations may provide exciting solutions to the treatment of inoperable epilepsies.


Assuntos
Encéfalo , Epilepsia , Rede Nervosa , Cirurgia Assistida por Computador/métodos , Realidade Virtual , Encéfalo/diagnóstico por imagem , Encéfalo/cirurgia , Biologia Computacional , Epilepsia/diagnóstico por imagem , Epilepsia/cirurgia , Humanos , Modelos Neurológicos , Rede Nervosa/diagnóstico por imagem , Rede Nervosa/cirurgia
11.
Neuroradiology ; 61(9): 991-1010, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31152191

RESUMO

PURPOSE: Seizures are often followed by a period of transient neurological dysfunction and postictal alterations in cerebral blood flow may underlie these symptoms. Recent animal studies have shown reduced local cerebral blood flow at the seizure onset zone (SOZ) lasting approximately 1 h following seizures. Using arterial spin labelling (ASL) MRI, we observed postictal hypoperfusion at the SOZ in 75% of patients. The clinical implementation of ASL as a tool to identify the SOZ is hampered by the limited availability of MRI on short notice. Computed tomography perfusion (CTP) also measures blood flow and may circumvent the logistical limitations of MRI. Thus, we aimed to measure the extent of postictal hypoperfusion using CTP. METHODS: Fourteen adult patients with refractory focal epilepsy admitted for presurgical evaluation were prospectively recruited and underwent CTP scanning within 80 min of a habitual seizure. Patients also underwent a baseline scan after they were seizure-free for > 24 h. The acquired scans were qualitatively assessed by two reviewers by visual inspection and quantitatively assessed through a subtraction pipeline to identify areas of significant postictal hypoperfusion. RESULTS: Postictal blood flow reductions of > 15 ml/100 g-1/min-1 were seen in 12/13 patients using the quantitative method of analysis. In 10/12 patients, the location of the hypoperfusion was partially or fully concordant with the presumed SOZ. In all patients, additional areas of scattered hypoperfusion were seen in areas corresponding to seizure spread. CONCLUSION: CTP can reliably measure postictal hypoperfusion which is maximal at the presumed SOZ.


Assuntos
Circulação Cerebrovascular/fisiologia , Angiografia por Tomografia Computadorizada , Epilepsia/diagnóstico por imagem , Epilepsia/fisiopatologia , Imagem por Ressonância Magnética , Tomografia Computadorizada com Tomografia Computadorizada de Emissão de Fóton Único , Adulto , Eletroencefalografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Marcadores de Spin , Adulto Jovem
12.
Seizure ; 69: 228-234, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31112829

RESUMO

PURPOSE: To summarize the clinical features and neuroimaging changes of epilepsy associated with TBC1D24 mutations. METHODS: Genetic testing was conducted in all epilepsy patients without acquired risk factors for epilepsy. Epilepsy patients identified with TBC1D24 compound heterozygous mutations by next-generation sequencing (NGS) epilepsy panel or whole exome sequencing (WES) were enrolled. The enrolled patients were followed up to summarize the clinical features. RESULTS: Nineteen patients were identified with TBC1D24 compound heterozygous mutations. Nine patients carried the same pathogenic variant c.241_252del. The seizure onset age ranged from 1 day to 8 months of age (median age 75 days). The most prominent features were multifocal myoclonus and epilepsia partialis continua (EPC). Myoclonus could be triggered by fever or infection in 15 patients, and could be terminated by sleep or sedation drugs. Psychomotor developmental delay was presented in 11 patients. Six patients exhibited hearing loss. Brain MRIs were abnormal in eight patients. Twelve patients were diagnosed with epilepsy syndromes including one patient who was diagnosed with Dravet syndrome. Two patients died due to status epilepticus at 4 months and 19 months of age, respectively. CONCLUSION: TBC1D24 mutation related epilepsy was drug-resistant. Multifocal myoclonus, EPC, and fever-induced seizures were common clinical features. Most patients presented psychomotor developmental delay. The neuroimaging abnormality and hearing loss could exacerbate during follow-up.


Assuntos
Epilepsia/genética , Proteínas Ativadoras de GTPase/genética , Mutação , Mioclonia/genética , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/fisiopatologia , Deficiências do Desenvolvimento/terapia , Epilepsia Parcial Contínua/diagnóstico por imagem , Epilepsia Parcial Contínua/genética , Epilepsia Parcial Contínua/fisiopatologia , Epilepsia Parcial Contínua/terapia , Epilepsia/diagnóstico por imagem , Epilepsia/fisiopatologia , Epilepsia/terapia , Feminino , Seguimentos , Predisposição Genética para Doença , Perda Auditiva/diagnóstico por imagem , Perda Auditiva/genética , Perda Auditiva/fisiopatologia , Perda Auditiva/terapia , Humanos , Lactente , Recém-Nascido , Masculino , Mioclonia/diagnóstico por imagem , Mioclonia/fisiopatologia , Mioclonia/terapia , Convulsões Febris/diagnóstico por imagem , Convulsões Febris/genética , Convulsões Febris/fisiopatologia , Convulsões Febris/terapia
13.
Neurol Med Chir (Tokyo) ; 59(7): 287-290, 2019 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-31118362

RESUMO

An electrical cortical stimulation provides important information for functional brain mapping. However, subjective responses (i.e. sensory, visual, and auditory symptoms) are purely detected by patients' descriptions, and may be affected by patients' awareness and intelligence levels. We experienced psychogenic responses in the electrical cortical stimulation of two patients with intractable epilepsy. A sham stimulation was useful for differentiating pseudo-responses from real responses in the electrical cortical stimulation. Inductive questions, long testing durations, and clear cues of stimulation onsets need to be avoided to prevent psychogenic pseudo-responses in the electrical cortical stimulation. Furthermore, a sham stimulation is applicable for detecting pseudo-responses the moment patients show atypical or inexplicable symptoms.


Assuntos
Mapeamento Encefálico/efeitos adversos , Eletroencefalografia/efeitos adversos , Epilepsia/fisiopatologia , Transtornos da Percepção/etiologia , Adolescente , Adulto , Estimulação Elétrica/efeitos adversos , Epilepsia/diagnóstico por imagem , Humanos , Masculino
15.
Magn Reson Imaging ; 61: 158-166, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31075421

RESUMO

Structural cerebral MRI analysis in patients with neurological diseases usually requires T1-weighted datasets for tissue segmentation. For this purpose, synthetic T1-weighted images which are constructed from quantitative maps of the underlying tissue parameters such as the T1 relaxation time and the proton density (PD) may provide advantages over conventional datasets. However, in some cases synthetic images may suffer from specific artifacts, hampering accurate tissue segmentation. The goal was to improve a previously described method for the calculation of synthetic magnetization-prepared rapid gradient-echo (MP-RAGE) datasets from quantitative T1 and PD maps. Improvements comprise a B0-correction for the water-selective excitation pulses employed in T1-mapping and the use of T1-based pseudo-PD maps. Synthetic T1-weighted MP-RAGE datasets were calculated, using the standard and the improved algorithm, for 10 patients with focal epilepsy (caused by focal cortical dysplasia in 9), 10 patients with multiple sclerosis and 10 healthy control subjects and segmented with the Freesurfer toolbox. Visual inspection disclosed that segmentation of the standard synthetic datasets was inaccurate in 6 out of 10 patients with epilepsy, 7 out of 10 patients with multiple sclerosis and 7 out of 10 healthy control subjects, while the improved synthetic datasets resulted in adequate segmentation outcomes in the majority of cases. Only for one patient with multiple sclerosis and one with epilepsy, segmentation in basal temporal regions was not sufficient. Furthermore, data based on the standard algorithm showed strong signal non-uniformities in basal regions. This effect was not present in the improved synthetic datasets.


Assuntos
Encéfalo/diagnóstico por imagem , Epilepsia/diagnóstico por imagem , Imagem por Ressonância Magnética , Esclerose Múltipla Recidivante-Remitente/diagnóstico por imagem , Doenças do Sistema Nervoso/diagnóstico por imagem , Adulto , Algoritmos , Artefatos , Bases de Dados Factuais , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Masculino , Pessoa de Meia-Idade , Prótons , Adulto Jovem
16.
Magn Reson Imaging ; 61: 137-142, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31129280

RESUMO

PURPOSE: Only a few studies have investigated the brain morphology abnormalities in structural MRI in patients with drug-naïve idiopathic generalized epilepsy (IGE) and mainly focused on brain volume changes. In the present study, we aimed to investigate the changes in three morphologic measurement differences including cortical thickness, cortical volume, and surface area using FreeSurfer in a pediatric cohort of recent-onset, drug-naïve IGE. METHODS: Forty-five recent-onset, drug-naïve patients diagnosed with IGE and 32 demographically matched healthy controls were recruited. All participants underwent structural MRI scans with a 3.0 T MR system. FreeSurfer, an automated cortical surface reconstruction toolbox, was applied to compare the cortical morphology between patients and controls. The brain regions with significant group differences after multiple comparison correction were extracted in common space for each patient, and then correlated with their clinical characteristics (including onset age, duration of epilepsy, and mini-mental state examination (MMSE)) using partial correlation analysis with age, sex and intracranial volume as covariates. RESULTS: Compared with controls, IGE patients showed decreased cortical thickness in the left rostral middle frontal gyrus, decreased cortical volume in the right cuneus and left superior frontal gyrus that extended to the precentral gyrus, and decreased surface area in the right cuneus and right inferior parietal gyrus. None of these regions showed significant relationships with clinical measurements in the patient group. CONCLUSION: Our findings suggest that cortical thickness, cortical volume, and surface area changes occurred in the early stage of IGE. These findings provide structural neuroimaging evidence underlying the pathology of IGE.


Assuntos
Mapeamento Encefálico , Epilepsia Generalizada/diagnóstico por imagem , Lobo Frontal/diagnóstico por imagem , Imagem por Ressonância Magnética , Córtex Pré-Frontal/diagnóstico por imagem , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Epilepsia/diagnóstico por imagem , Feminino , Lobo Frontal/patologia , Humanos , Processamento de Imagem Assistida por Computador/métodos , Masculino , Reconhecimento Automatizado de Padrão , Córtex Pré-Frontal/patologia , Reprodutibilidade dos Testes
17.
Biol Psychol ; 145: 211-223, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31129312

RESUMO

How emotions unfold through time in the brain, and how fast they can be regulated by voluntary control, remain unresolved. Psychological accounts of emotion regulation posit cognitive reappraisal mechanisms may alter early emotion generative processes directly, whereas suppression impacts only later processing stages, after emotion has arisen. However, to date, there is no neurophysiological data concerning the precise latency of emotion regulation effects on the amygdala, a major emotion processing relay in the brain. Here we record amygdala activity from six patients undergoing surgery for pharmaco-resistant epilepsy during both reappraisal and suppression. We find that emotion reappraisal strategy, but not suppression, modulates early neural responses to emotional scenes during an extended period of time, starting 130 ms post-stimulus onset. Further, reappraisal produced earlier impact on amygdala responses to positive compared to negative scenes. Our results provide the first neurophysiological support for theoretical accounts of emotion regulation that postulate an early modulation of emotion generative processes by reappraisal.


Assuntos
Tonsila do Cerebelo/fisiologia , Emoções/fisiologia , Adulto , Tonsila do Cerebelo/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Encéfalo/fisiologia , Mapeamento Encefálico , Epilepsia/diagnóstico por imagem , Epilepsia/fisiopatologia , Epilepsia/psicologia , Feminino , Humanos , Imagem por Ressonância Magnética , Pessoa de Meia-Idade
18.
Orphanet J Rare Dis ; 14(1): 110, 2019 05 16.
Artigo em Inglês | MEDLINE | ID: mdl-31096996

RESUMO

Linear scleroderma "en coup de sabre" (LSES) variant is a cephalic subtype of localized scleroderma that can be associated with extracutaneous stigmata, such as epilepsy, dementia syndromes, as well as focal central nervous system neurologic deficits. While the pathophysiology of cutaneous linear scleroderma includes endothelial cell injury and up regulation of pro-fibrogenic pathways, the basis of LSES-associated neurologic complications is largely unknown. We report a patient with a history of LSES who developed intractable epilepsy and cognitive decline. Magnetic resonance imaging (MRI) of the brain exhibited numerous persistently enhancing brain lesions. Due to progressive neurologic deterioration over a period of 7 years, despite interventional therapy, a brain biopsy was performed. Neuropathologic analysis exhibited acute and chronic cortical ischemia associated with a small vessel lymphocytic vasculitis. Direct immunofluorescent studies showed C5b-9 and IgG deposition on endothelium while indirect immunofluorescent studies demonstrated reactivity of the patient's serum with the microvasculature of the patient's own brain tissue and generic human umbilical vein endothelial cells indicative of anti-endothelial cell antibodies. Therapy focusing on damaged endothelium was implemented. The interleukin-6 (IL-6) receptor inhibitor tocilizumab was used and the patient improved dramatically, likely reflecting the drug's effect on the replenishment of endothelial progenitor cells.


Assuntos
Esclerodermia Localizada/tratamento farmacológico , Esclerodermia Localizada/patologia , Adulto , Anticorpos Monoclonais Humanizados/uso terapêutico , Cognição/efeitos dos fármacos , Progressão da Doença , Epilepsia/diagnóstico por imagem , Epilepsia/tratamento farmacológico , Epilepsia/patologia , Feminino , Técnica Indireta de Fluorescência para Anticorpo , Humanos , Imuno-Histoquímica , Imagem por Ressonância Magnética , Poliendocrinopatias Autoimunes/diagnóstico por imagem , Poliendocrinopatias Autoimunes/tratamento farmacológico , Poliendocrinopatias Autoimunes/patologia , Receptores de Interleucina-6/antagonistas & inibidores , Esclerodermia Localizada/diagnóstico por imagem , Vasculite/diagnóstico por imagem , Vasculite/tratamento farmacológico , Vasculite/patologia
19.
J Neurol ; 266(8): 1907-1918, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31055634

RESUMO

OBJECTIVE: We aimed to assess stereoelectroencephalography (SEEG) seizure-onset and interictal patterns associated with MRI-negative epilepsy and investigate their possible links with histology, extent of the epileptogenic zone (EZ) and surgical outcome. METHODS: We retrospectively analysed a cohort of 59 consecutive MRI-negative surgical candidates, who underwent SEEG recordings followed by cortectomy between 2000 and 2016. RESULTS: Most of the eight distinct seizure-onset patterns could be encountered both in confirmed focal cortical dysplasia (FCD) and in histologically non-specific or normal cases. We found strong correlation (p = 0.008) between seizure-onset pattern and histology for: (1) slow-wave/DC-shift prior to low voltage fast activity (LVFA), associated with normal/non-specific histology, and (2) bursts of polyspikes prior to LVFA, exclusively observed in FCD. Three interictal patterns were identified: periodic slow-wave/gamma burst, sub-continuous rhythmic spiking and irregular spikes. Both "periodic" patterns were more frequent in but not specific to FCD. Surgical outcome depended on the EZ complete removal, regardless electrophysiological features. CONCLUSIONS: Histologically normal and FCD-associated epileptogenic zones share distinct interictal and ictal electrophysiological phenotypes, with common patterns between FCD subtypes and between dysplastic and apparently normal brain. SIGNIFICANCE: Some specific seizure-onset patterns seem to be predictive of the underlying histology and may help to detect an MRI-invisible FCD.


Assuntos
Eletroencefalografia/métodos , Epilepsia/diagnóstico por imagem , Imagem por Ressonância Magnética , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Fenótipo , Técnicas Estereotáxicas , Adulto , Epilepsia/epidemiologia , Epilepsia/fisiopatologia , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Malformações do Desenvolvimento Cortical/epidemiologia , Malformações do Desenvolvimento Cortical/fisiopatologia , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
20.
Brain Dev ; 41(9): 783-789, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31122804

RESUMO

BACKGROUND: Cyclin-dependent kinase-like 5 (CDKL5), which maps to chromosome Xp22.13 and contains 20 coding exons, has been recognized as the gene responsible for early-onset epileptic encephalopathy (EoEE). A retrospective study is carried out to analyze potential genotypic and phenotypic differences between male and female patients with CDKL5 mutations. MATERIALS AND METHODS: Targeted next-generation DNA sequencing was employed to search for mutations in patients with cryptogenic EE. A total of 44 patients with EoEE/infantile spasms (ISs)/West syndrome were enrolled for pathogenic mutation screening. The clinical phenotypes of patients with CDKL5 mutations were analyzed and compared with those of 166 published cases. RESULTS: One novel and three recurrent mutations were found in four enrolled patients (two boys and two girls). One female patient had partial seizures during the early infantile period and epileptic spasms and tonic seizures several weeks thereafter. The other female patient had IS with hypsarrhythmia. The two male patients had IS without typical hypsarrhythmia and were bedridden. Brain MRIs of the male patients revealed brain atrophy and white matter hyperintensity. The female patients exhibited autistic features with hand stereotypies. CONCLUSION: Our study highlights that both girls and boys with IS harbor CDKL5 mutations. Male children with CDKL5 mutations demonstrate a higher frequency of infantile spasms and brain atrophy, whereas female children often exhibit atypical Rett syndrome with EoEE. In addition, male children have a more severe phenotype than female children.


Assuntos
Mutação , Proteínas Serina-Treonina Quinases/genética , Criança , Epilepsia/diagnóstico por imagem , Epilepsia/genética , Feminino , Estudos de Associação Genética , Humanos , Masculino , Hipotonia Muscular/genética , Fenótipo , Síndrome de Rett/genética , Fatores Sexuais
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