131 results on '"Yasuda, Clarissa L."'
Search Results
102. Long term follow up of familial mesial temporal lobe epilepsy
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Morita, Márcia E., primary, Conz, Lívia, additional, Maurer-Morelli, Claudia V., additional, Kobayashi, Eliane, additional, Yasuda, Clarissa L., additional, Betting, Luiz E. G., additional, Pereira, Fabrício R. S., additional, Lopes-Cendes, Iscia, additional, and Cendes, Fernando, additional
- Published
- 2008
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103. IC‐P1‐002: Patterns of grey matter atrophy in mild Alzheimer's disease compared to amnestic mild cognitive impairment and normal aging: A voxel based morphometry study
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Balthazar, Marcio L.F., primary, Yasuda, Clarissa L., additional, Pedro, Tatiane, additional, Cendes, Fernando, additional, and Damasceno, Benito P., additional
- Published
- 2008
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104. FCD segmentation using texture asymmetry of MR-T1 images of the brain
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Bergo, Felipe P.G., primary, Falcao, Alexandre X., additional, Yasuda, Clarissa L., additional, and Cendes, Fernando, additional
- Published
- 2008
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105. Avaliação pré-cirúrgica de epilepsia neocortical de lobo temporal com utilização de FDG-18F SPECT: relato de caso
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Bilevicius, Elizabeth, primary, Etchebehere, Elba Cristina Sá de Camargo, additional, Camargo, Edwaldo E., additional, Yasuda, Clarissa L., additional, and Cendes, Fernando, additional
- Published
- 2006
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106. Revealing the spatiotemporal requirements for accurate subject identification with resting-state functional connectivity: a simultaneous fNIRS-fMRI study
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Novi, Sergio L., Carvalho, Alex C., Forti, R. M., Cendes, Fernado, Yasuda, Clarissa L., and Mesquita, Rickson C.
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- 2022
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107. Neocortical Atrophy in Machado-Joseph Disease: A Longitudinal Neuroimaging Study.
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D'Abreu, Anelyssa, França Jr., Marcondes C., Yasuda, Clarissa L., Campos, Bruno A. G., Lopes-Cendes, Iscia, and Cendes, Fernando
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ATROPHY ,BRAIN imaging ,SPINOCEREBELLAR ataxia ,REGRESSION analysis ,T-test (Statistics) - Abstract
ABSTRACT BACKGROUND/PURPOSE Previous imaging studies in the Machado-Joseph disease (MJD/SCA3) have mostly concentrated on the cerebellum and brainstem. Our goal was to perform a whole brain longitudinal evaluation. METHODS We included 45 patients and 51 controls, who underwent two brain magnetic resonance imaging and magnetic resonance spectroscopy (mean interval of 12.5 ± 1.5 months). We used voxel-based morphometry (VBM) and the MarsBar analysis toolbox to extract grey matter density (GMD) values from regions of interest. We used a linear regression model and a general linear model to correlate GMD with clinical markers, and paired t-test for the longitudinal evaluation. RESULTS We observed decreased GMD ( P < .01) at frontal, parietal, temporal and occipital lobes, subcortical grey matter, cerebellum, and brainstem. White matter atrophy was restricted to the cerebellum. Age, CAG, and disease duration predicted GMD in different areas, but age and CAG were the most important predictors. The longitudinal analysis failed to demonstrate changes. Changes in regions other than the cerebellum appeared to contribute significantly to the final International Cooperative Ataxia Rating Scale score. CONCLUSION We confirmed cortical involvement in MJD/SCA3. The most important factors in predicting GMD were age and CAG. The lack of progression of atrophy may indicate floor effect and/or short duration of follow-up. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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108. Learning, retrieval, and recognition are compromised in aMCI and mild AD: Are distinct episodic memory processes mediated by the same anatomical structures?
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Balthazar, Marcio L. F., Yasuda, Clarissa L., Cendes, Fernando, and Damasceno, Benito P.
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COGNITION disorders , *MEMORY disorders , *DEMENTIA , *ALZHEIMER'S patients , *ETIOLOGY of diseases , *DISEASE management , *PSYCHOLOGY of learning , *PHYSIOLOGY , *DISEASE risk factors - Abstract
Performance of different episodic memory processes in patients with amnestic mild cognitive impairment (aMCI) and mild Alzheimer's disease (AD) and their anatomical correlates are not completely understood. We evaluated the performance of 48 subjects (17 with aMCI, 15 with mild AD, and 16 controls) on the Rey Auditory Verbal Learning Test (RAVLT). A brain MRI voxel-based morphometry (VBM) analysis was run with the aim of evaluating the correlations between RAVLT and gray matter density. All memory processes were compromised in aMCI and mild AD. Also, the same cerebral structures were involved in all RAVLT stages. Learning and delayed recall were more related to the medial prefrontal cortex and hippocampi, whereas recognition was more related to the thalamic nuclei and caudate nucleus, particularly in the left side. Our findings suggest that these structures may act as a complex functional system and are involved in the acquisition of new information. [ABSTRACT FROM AUTHOR]
- Published
- 2010
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109. A combined voxel-based morphometry and 1H-MRS study in patients with Friedreich’s ataxia.
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França, Jr., Marcondes C., D'Abreu, Anelyssa, Yasuda, Clarissa L., Bonadia, Luciana Cardoso, da Silva, Marilza Santos, Nucci, Anamarli, Lopes-Cendes, Iscia, and Cendes, Fernando
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FRIEDREICH'S ataxia ,SPINAL cord diseases ,BRAIN stem ,ATAXIA ,BRAIN diseases - Abstract
Friedreich’s ataxia (FA) is the most frequent autosomal recessive ataxia and essentially considered a disease of the dorsal root ganglia and spinal cord. It is caused by homozygous GAA expansions in the Frataxin gene in most cases. Although only a few studies have addressed cerebral involvement in FA, cognitive symptoms have lately been emphasized. To evaluate brain damage in vivo, we employed whole-brain VBM and analysis of pre-defined regions of interest (ROIs) over the cerebellum to compare 24 patients with 24 age-and-sex-matched normal controls.
1 H-MRS of deep cerebral white matter (WM) was subsequently performed. Mean age of patients was 28 years (range 14–45), mean duration of disease was 14 years (range 5–28) and 11 were men. Mean length of shorter (GAA1) and longer (GAA2) alleles were 735 and 863, respectively. VBM analysis identified WM atrophy in the posterior cyngulate gyrus, paracentral lobule and middle frontal gyrus. ROIs over the infero-medial cerebellar hemispheres and dorsal brainstem presented gray matter atrophy, which correlated with duration of disease ( r = −0.4). NAA/Cr ratios were smaller among patients ( P = 0.006), but not Cho/Cr ( P = 0.08). Our results provide evidence of axonal damage in the cerebellum, brainstem and subcortical WM in FA. This suggests that neuronal dysfunction is more widespread than previously thought in FA. [ABSTRACT FROM AUTHOR]- Published
- 2009
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110. Thalamic Volume and Dystonia in Machado-Joseph Disease.
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D'Abreu, Anelyssa, França Jr, Macondes C., Yasuda, Clarissa L., Souza, Mariana S.A., Lopes-Cendes, Íscia, and Cendes, Fernando
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NEUROLOGICAL disorders ,DYSTONIA ,POSITRON emission tomography ,THALAMUS diseases ,T-test (Statistics) ,CENTRAL nervous system - Abstract
BACKGROUND AND PURPOSE: Neuropathological studies and one positron emission tomography study demonstrated involvement of the thalamus in Machado-Joseph disease (MJD), but a large series of patients has not been studied. Our objective was to perform an automated and a manual segmentation of the thalamus in patients with MJD. METHODS: We used the MarsBar volume of interest analysis toolbox to SPM2 and selected thalamic region of interests and we performed a t-test with Bonferroni's correction using SPM2 to compare patients to control. Next, we performed manual segmentation of the thalamus using the display software. Differences between patients and controls were analyzed by t-test. We also correlated manual thalamic volumes with clinical and genetic markers of the disease. RESULTS: We observed decreased thalamic volumes in MJD when compared to controls using both methods of volumetric measurement. MJD patients with dystonia had smaller volumes than patients without dystonia. CONCLUSIONS: We confirmed thalamic involvement in MJD patients. Patients with dystonia had smaller thalamic volumes than patients without dystonia. We observed a clinical-anatomical correlation, which suggests that different phenotypes of the disease present different primary or secondary targets of the disease. [ABSTRACT FROM AUTHOR]
- Published
- 2011
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111. ROLE OF THE THALAMUS IN JUVENILE MYOCLONIC EPILEPSY
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Luiz Betting, Mory, S. B., Yasuda, Clarissa L., Lopes-Cendes, I., Guerreiro, M. M., Guerreiro, C. A., Cendes, F., and Li, L. M.
112. VOXEL BASED MORPHOMETRY (VBM) REVEALS PROGRESSION OF GRAY MATTER ATROPHY IN PATIENTS WITH REFRACTORY FRONTAL LOBE EPILEPSY
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Yasuda, Clarissa L., Morita, M. E., Costa, A. F., Costa, A. C., Cardoso, T. A., Luiz Betting, Guerreiro, C. M., Tedeschi, H., Oliveira, E., Guerreiro, M. M., and Cendes, F.
113. Abstract WP121.
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Avelar, Wagner M, D’abreu, Anelyssa, Lima, Fabricio O, Yasuda, Clarissa L, Coan, Ana Carolina, Campos-Herrera, Cynthia R, Guillaumon, Ana T, Min, Li L, and Cendes, Fernando
- Published
- 2013
114. Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy.
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Gonsales, Marina C., Ribeiro, Patrícia A.O., Betting, Luiz E., Alvim, Marina K.M., Guerreiro, Carlos M., Yasuda, Clarissa L., Gitaí, Daniel L.G., Cendes, Fernando, and Lopes-Cendes, Iscia
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EPILEPSY , *MEDICAL genetics , *MOLECULAR pathology , *MEDICAL genomics , *GENETIC testing - Abstract
The most common form of genetic generalized epilepsy (GGE) is juvenile myoclonic epilepsy (JME), which accounts for 5 to 10% of all epilepsy cases. The gene EFHC1 has been implicated as a putative cause of JME. However, it remains debatable whether testing for EFHC1 mutations should be included in the diagnostic epilepsy gene panels. To investigate the clinical utility of EFHC1 testing, we studied 125 individuals: 100 with JME and 25 with other GGEs. We amplified and sequenced all EFHC1 coding exons. Then, we predicted the pathogenicity or benign impact of the variants using the analyses proposed by the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP). Mutation screening revealed 11 missense variants in 44 probands with JME (44%) and one of the seven individuals with generalized tonic–clonic seizures on awakening (14%). Six of the 11 variants (54%) were classified as 'benign,' and the remaining variants were considered variants of uncertain significance (VUS). There is currently a limitation to test for genes that predispose an individual to complex, nonmonogenic phenotypes. Thus, we show suggestive evidence that EFHC1 testing lacks a scientific foundation based on the disputed nature of the gene-disease relationship and should be currently limited to research purposes. • Variants in EFHC1 cannot be unequivocally classified regarding impact on disease. • Variants in EFHC1 are not a monogenic cause of JME. • Genetic test for EFHC1 does not present clinical utility. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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115. Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.
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Kerestes R, Perry A, Vivash L, O'Brien TJ, Alvim MKM, Arienzo D, Aventurato ÍK, Ballerini A, Baltazar GF, Bargalló N, Bender B, Brioschi R, Bürkle E, Caligiuri ME, Cendes F, de Tisi J, Duncan JS, Engel JP Jr, Foley S, Fortunato F, Gambardella A, Giacomini T, Guerrini R, Hall G, Hamandi K, Ives-Deliperi V, João RB, Keller SS, Kleiser B, Labate A, Lenge M, Marotta C, Martin P, Mascalchi M, Meletti S, Owens-Walton C, Parodi CB, Pascual-Diaz S, Powell D, Rao J, Rebsamen M, Reiter J, Riva A, Rüber T, Rummel C, Scheffler F, Severino M, Silva LS, Staba RJ, Stein DJ, Striano P, Taylor PN, Thomopoulos SI, Thompson PM, Tortora D, Vaudano AE, Weber B, Wiest R, Winston GP, Yasuda CL, Zheng H, McDonald CR, Sisodiya SM, and Harding IH
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- Adult, Humans, Phenytoin, Cross-Sectional Studies, Cerebellum diagnostic imaging, Cerebellum pathology, Seizures complications, Magnetic Resonance Imaging methods, Atrophy pathology, Epilepsy, Temporal Lobe complications, Epileptic Syndromes complications
- Abstract
Objective: The intricate neuroanatomical structure of the cerebellum is of longstanding interest in epilepsy, but has been poorly characterized within the current corticocentric models of this disease. We quantified cross-sectional regional cerebellar lobule volumes using structural magnetic resonance imaging in 1602 adults with epilepsy and 1022 healthy controls across 22 sites from the global ENIGMA-Epilepsy working group., Methods: A state-of-the-art deep learning-based approach was employed that parcellates the cerebellum into 28 neuroanatomical subregions. Linear mixed models compared total and regional cerebellar volume in (1) all epilepsies, (2) temporal lobe epilepsy with hippocampal sclerosis (TLE-HS), (3) nonlesional temporal lobe epilepsy, (4) genetic generalized epilepsy, and (5) extratemporal focal epilepsy (ETLE). Relationships were examined for cerebellar volume versus age at seizure onset, duration of epilepsy, phenytoin treatment, and cerebral cortical thickness., Results: Across all epilepsies, reduced total cerebellar volume was observed (d = .42). Maximum volume loss was observed in the corpus medullare (d
max = .49) and posterior lobe gray matter regions, including bilateral lobules VIIB (dmax = .47), crus I/II (dmax = .39), VIIIA (dmax = .45), and VIIIB (dmax = .40). Earlier age at seizure onset ( η ρ max 2 = .05) and longer epilepsy duration ( η ρ max 2 = .06) correlated with reduced volume in these regions. Findings were most pronounced in TLE-HS and ETLE, with distinct neuroanatomical profiles observed in the posterior lobe. Phenytoin treatment was associated with reduced posterior lobe volume. Cerebellum volume correlated with cerebral cortical thinning more strongly in the epilepsy cohort than in controls., Significance: We provide robust evidence of deep cerebellar and posterior lobe subregional gray matter volume loss in patients with chronic epilepsy. Volume loss was maximal for posterior subregions implicated in nonmotor functions, relative to motor regions of both the anterior and posterior lobe. Associations between cerebral and cerebellar changes, and variability of neuroanatomical profiles across epilepsy syndromes argue for more precise incorporation of cerebellar subregional damage into neurobiological models of epilepsy., (© 2024 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)- Published
- 2024
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116. Evidence of brain metabolism redistribution from neocortex to primitive brain structures in early acute COVID-19 respiratory syndrome.
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Souza SPM, Colet N, Fujiwara M, Fernandes AP, Tobar N, Dertkigil SSJ, Takahashi MES, Amorim BJ, Silva LS, Yasuda CL, Cendes F, de Souza TF, Rodrigues JT, Zantut-Wittmann DE, and Ramos CD
- Abstract
Background: Neuropsychiatric sequelae of COVID-19 have been widely documented in patients with severe neurological symptoms during the chronic or subacute phase of the disease. However, it remains unclear whether subclinical changes in brain metabolism can occur early in the acute phase of the disease. The aim of this study was to identify and quantify changes in brain metabolism in patients hospitalized for acute respiratory syndrome due to COVID-19 with no or mild neurological symptoms., Results: Twenty-three non-intubated patients (13 women; mean age 55.5 ± 12.1 years) hospitalized with positive nasopharyngeal swab test (RT-PCR) for COVID-19, requiring supplemental oxygen and no or mild neurological symptoms were studied. Serum C-reactive protein measured at admission ranged from 6.43 to 189.0 mg/L (mean: 96.9 ± 54.2 mg/L). The mean supplemental oxygen demand was 2.9 ± 1.4 L/min. [
18 F]FDG PET/CT images were acquired with a median of 12 (4-20) days of symptoms. After visual interpretation of the images, semiquantitative analysis of [18 F]FDG uptake in multiple brain regions was evaluated using dedicated software and the standard deviation (SD) of brain uptake in each region was automatically calculated in comparison with reference values of a normal database. Evolutionarily ancient structures showed positive SD mean values of [18 F]FDG uptake. Lenticular nuclei were bilaterally hypermetabolic (> 2 SD) in 21/23 (91.3%) patients, and thalamus in 16/23 (69.6%), bilaterally in 11/23 (47.8%). About half of patients showed hypermetabolism in brainstems, 40% in hippocampi, and 30% in cerebellums. In contrast, neocortical regions (frontal, parietal, temporal and occipital lobes) presented negative SD mean values of [18 F]FDG uptake and hypometabolism (< 2 SD) was observed in up to a third of patients. Associations were found between hypoxia, inflammation, coagulation markers, and [18 F]FDG uptake in various brain structures., Conclusions: Brain metabolism is clearly affected during the acute phase of COVID-19 respiratory syndrome in neurologically asymptomatic or oligosymptomatic patients. The most frequent finding is marked hypermetabolism in evolutionary ancient structures such as lenticular nucleus and thalami. Neocortical metabolism was reduced in up to one third of patients, suggesting a redistribution of brain metabolism from the neocortex to evolutionary ancient brain structures in these patients., (© 2024. The Author(s).)- Published
- 2024
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117. A WORLDWIDE ENIGMA STUDY ON EPILEPSY-RELATED GRAY AND WHITE MATTER COMPROMISE ACROSS THE ADULT LIFESPAN.
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Chen J, Ngo A, Rodríguez-Cruces R, Royer J, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda CL, Alvim MKM, Bonilha L, Gleichgerrcht E, Focke NK, Kreilkamp B, Domin M, von Podewils F, Langner S, Rummel C, Wiest R, Martin P, Kotikalapudi R, Bender B, O'Brien TJ, Sinclair B, Vivash L, Kwan P, Desmond PM, Lui E, Duma GM, Bonanni P, Ballerini A, Vaudano AE, Meletti S, Tondelli M, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kälviäinen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Lenge M, Guerrini R, Bartolini E, Hamandi K, Foley S, Rüber T, Bauer T, Weber B, Caldairou B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Pardoe H, Severino M, Striano P, Tortora D, Kaestner E, Hatton SN, Arienzo D, Vos SB, Ryten M, Taylor PN, Duncan JS, Whelan CD, Galovic M, Winston GP, Thomopoulos SI, Thompson PM, Sisodiya SM, Labate A, McDonald CR, Caciagli L, Bernasconi N, Bernasconi A, Larivière S, Schrader D, and Bernhardt BC
- Abstract
Objectives: Temporal lobe epilepsy (TLE) is commonly associated with mesiotemporal pathology and widespread alterations of grey and white matter structures. Evidence supports a progressive condition although the temporal evolution of TLE is poorly defined. This ENIGMA-Epilepsy study utilized multimodal magnetic resonance imaging (MRI) data to investigate structural alterations in TLE patients across the adult lifespan. We charted both grey and white matter changes and explored the covariance of age-related alterations in both compartments., Methods: We studied 769 TLE patients and 885 healthy controls across an age range of 17-73 years, from multiple international sites. To assess potentially non-linear lifespan changes in TLE, we harmonized data and combined median split assessments with cross-sectional sliding window analyses of grey and white matter age-related changes. Covariance analyses examined the coupling of grey and white matter lifespan curves., Results: In TLE, age was associated with a robust grey matter thickness/volume decline across a broad cortico-subcortical territory, extending beyond the mesiotemporal disease epicentre. White matter changes were also widespread across multiple tracts with peak effects in temporo-limbic fibers. While changes spanned the adult time window, changes accelerated in cortical thickness, subcortical volume, and fractional anisotropy (all decreased), and mean diffusivity (increased) after age 55 years. Covariance analyses revealed strong limbic associations between white matter tracts and subcortical structures with cortical regions., Conclusions: This study highlights the profound impact of TLE on lifespan changes in grey and white matter structures, with an acceleration of aging-related processes in later decades of life. Our findings motivate future longitudinal studies across the lifespan and emphasize the importance of prompt diagnosis as well as intervention in patients.
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- 2024
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118. Role of the glymphatic system and perivascular spaces as a potential biomarker for post-stroke epilepsy.
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Hlauschek G, Nicolo JP, Sinclair B, Law M, Yasuda CL, Cendes F, Lossius MI, Kwan P, and Vivash L
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- Humans, Aged, Brain, Biomarkers, Glymphatic System pathology, Stroke complications, Stroke pathology, Epilepsy etiology
- Abstract
Stroke is one of the most common causes of acquired epilepsy, which can also result in disability and increased mortality rates particularly in elderly patients. No preventive treatment for post-stroke epilepsy is currently available. Development of such treatments has been greatly limited by the lack of biomarkers to reliably identify high-risk patients. The glymphatic system, including perivascular spaces (PVS), is the brain's waste clearance system, and enlargement or asymmetry of PVS (ePVS) is hypothesized to play a significant role in the pathogenesis of several neurological conditions. In this article, we discuss potential mechanisms for the role of perivascular spaces in the development of post-stroke epilepsy. Using advanced MR-imaging techniques, it has been shown that there is asymmetry and impairment of glymphatic function in the setting of ischemic stroke. Furthermore, studies have described a dysfunction of PVS in patients with different focal and generalized epilepsy syndromes. It is thought that inflammatory processes involving PVS and the blood-brain barrier, impairment of waste clearance, and sustained hypertension affecting the glymphatic system during a seizure may play a crucial role in epileptogenesis post-stroke. We hypothesize that impairment of the glymphatic system and asymmetry and dynamics of ePVS in the course of a stroke contribute to the development of PSE. Automated ePVS detection in stroke patients might thus assist in the identification of high-risk patients for post-stroke epilepsy trials. PLAIN LANGUAGE SUMMARY: Stroke often leads to epilepsy and is one of the main causes of epilepsy in elderly patients, with no preventative treatment available. The brain's waste removal system, called the glymphatic system which consists of perivascular spaces, may be involved. Enlargement or asymmetry of perivascular spaces could play a role in this and can be visualised with advanced brain imaging after a stroke. Detecting enlarged perivascular spaces in stroke patients could help identify those at risk for post-stroke epilepsy., (© 2023 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)
- Published
- 2024
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119. Cerebellar Volume and Disease Staging in Parkinson's Disease: An ENIGMA-PD Study.
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Kerestes R, Laansma MA, Owens-Walton C, Perry A, van Heese EM, Al-Bachari S, Anderson TJ, Assogna F, Aventurato ÍK, van Balkom TD, Berendse HW, van den Berg KRE, Betts R, Brioschi R, Carr J, Cendes F, Clark LR, Dalrymple-Alford JC, Dirkx MF, Druzgal J, Durrant H, Emsley HCA, Garraux G, Haroon HA, Helmich RC, van den Heuvel OA, João RB, Johansson ME, Khachatryan SG, Lochner C, McMillan CT, Melzer TR, Mosley PE, Newman B, Opriessnig P, Parkes LM, Pellicano C, Piras F, Pitcher TL, Poston KL, Rango M, Roos A, Rummel C, Schmidt R, Schwingenschuh P, Silva LS, Smith V, Squarcina L, Stein DJ, Tavadyan Z, Tsai CC, Vecchio D, Vriend C, Wang JJ, Wiest R, Yasuda CL, Young CB, Jahanshad N, Thompson PM, van der Werf YD, and Harding IH
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- Humans, Cross-Sectional Studies, Magnetic Resonance Imaging, Cerebellum, Brain, Parkinson Disease complications
- Abstract
Background: Increasing evidence points to a pathophysiological role for the cerebellum in Parkinson's disease (PD). However, regional cerebellar changes associated with motor and non-motor functioning remain to be elucidated., Objective: To quantify cross-sectional regional cerebellar lobule volumes using three dimensional T1-weighted anatomical brain magnetic resonance imaging from the global ENIGMA-PD working group., Methods: Cerebellar parcellation was performed using a deep learning-based approach from 2487 people with PD and 1212 age and sex-matched controls across 22 sites. Linear mixed effects models compared total and regional cerebellar volume in people with PD at each Hoehn and Yahr (HY) disease stage, to an age- and sex- matched control group. Associations with motor symptom severity and Montreal Cognitive Assessment scores were investigated., Results: Overall, people with PD had a regionally smaller posterior lobe (d
max = -0.15). HY stage-specific analyses revealed a larger anterior lobule V bilaterally (dmax = 0.28) in people with PD in HY stage 1 compared to controls. In contrast, smaller bilateral lobule VII volume in the posterior lobe was observed in HY stages 3, 4, and 5 (dmax = -0.76), which was incrementally lower with higher disease stage. Within PD, cognitively impaired individuals had lower total cerebellar volume compared to cognitively normal individuals (d = -0.17)., Conclusions: We provide evidence of a dissociation between anterior "motor" lobe and posterior "non-motor" lobe cerebellar regions in PD. Whereas less severe stages of the disease are associated with larger motor lobe regions, more severe stages of the disease are marked by smaller non-motor regions. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)- Published
- 2023
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120. Clinical characteristics and outcomes of patients with post-stroke epilepsy: protocol for an individual patient data meta-analysis from the International Post-stroke Epilepsy Research Repository (IPSERR).
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Mishra NK, Kwan P, Tanaka T, Sunnerhagen KS, Dawson J, Zhao Y, Misra S, Wang S, Sharma VK, Mazumder R, Funaro MC, Ihara M, Nicolo JP, Liebeskind DS, Yasuda CL, Cendes F, Quinn TJ, Ge Z, Scalzo F, Zelano J, and Kasner SE
- Subjects
- Humans, Adolescent, Adult, Seizures etiology, Prognosis, Research Design, Meta-Analysis as Topic, Epilepsy etiology, Stroke complications
- Abstract
Introduction: Despite significant advances in managing acute stroke and reducing stroke mortality, preventing complications like post-stroke epilepsy (PSE) has seen limited progress. PSE research has been scattered worldwide with varying methodologies and data reporting. To address this, we established the International Post-stroke Epilepsy Research Consortium (IPSERC) to integrate global PSE research efforts. This protocol outlines an individual patient data meta-analysis (IPD-MA) to determine outcomes in patients with post-stroke seizures (PSS) and develop/validate PSE prediction models, comparing them with existing models. This protocol informs about creating the International Post-stroke Epilepsy Research Repository (IPSERR) to support future collaborative research., Methods and Analysis: We utilised a comprehensive search strategy and searched MEDLINE, Embase, PsycInfo, Cochrane, and Web of Science databases until 30 January 2023. We extracted observational studies of stroke patients aged ≥18 years, presenting early or late PSS with data on patient outcome measures, and conducted the risk of bias assessment. We did not apply any restriction based on the date or language of publication. We will invite these study authors and the IPSERC collaborators to contribute IPD to IPSERR. We will review the IPD lodged within IPSERR to identify patients who developed epileptic seizures and those who did not. We will merge the IPD files of individual data and standardise the variables where possible for consistency. We will conduct an IPD-MA to estimate the prognostic value of clinical characteristics in predicting PSE., Ethics and Dissemination: Ethics approval is not required for this study. The results will be published in peer-reviewed journals. This study will contribute to IPSERR, which will be available to researchers for future PSE research projects. It will also serve as a platform to anchor future clinical trials., Trial Registration Number: NCT06108102., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2023
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121. Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.
- Author
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Kerestes R, Perry A, Vivash L, O'Brien TJ, Alvim MKM, Arienzo D, Aventurato ÍK, Ballerini A, Baltazar GF, Bargalló N, Bender B, Brioschi R, Bürkle E, Caligiuri ME, Cendes F, de Tisi J, Duncan JS, Engel JP Jr, Foley S, Fortunato F, Gambardella A, Giacomini T, Guerrini R, Hall G, Hamandi K, Ives-Deliperi V, João RB, Keller SS, Kleiser B, Labate A, Lenge M, Marotta C, Martin P, Mascalchi M, Meletti S, Owens-Walton C, Parodi CB, Pascual-Diaz S, Powell D, Rao J, Rebsamen M, Reiter J, Riva A, Rüber T, Rummel C, Scheffler F, Severino M, Silva LS, Staba RJ, Stein DJ, Striano P, Taylor PN, Thomopoulos SI, Thompson PM, Tortora D, Vaudano AE, Weber B, Wiest R, Winston GP, Yasuda CL, Zheng H, McDonald CR, Sisodiya SM, and Harding IH
- Abstract
Objective: The intricate neuroanatomical structure of the cerebellum is of longstanding interest in epilepsy, but has been poorly characterized within the current cortico-centric models of this disease. We quantified cross-sectional regional cerebellar lobule volumes using structural MRI in 1,602 adults with epilepsy and 1,022 healthy controls across twenty-two sites from the global ENIGMA-Epilepsy working group., Methods: A state-of-the-art deep learning-based approach was employed that parcellates the cerebellum into 28 neuroanatomical subregions. Linear mixed models compared total and regional cerebellar volume in i) all epilepsies; ii) temporal lobe epilepsy with hippocampal sclerosis (TLE-HS); iii) non-lesional temporal lobe epilepsy (TLE-NL); iv) genetic generalised epilepsy; and (v) extra-temporal focal epilepsy (ETLE). Relationships were examined for cerebellar volume versus age at seizure onset, duration of epilepsy, phenytoin treatment, and cerebral cortical thickness., Results: Across all epilepsies, reduced total cerebellar volume was observed ( d =0.42). Maximum volume loss was observed in the corpus medullare ( d
max =0.49) and posterior lobe grey matter regions, including bilateral lobules VIIB ( dmax = 0.47), Crus I/II ( dmax = 0.39), VIIIA ( dmax =0.45) and VIIIB ( dmax =0.40). Earlier age at seizure onset ( ηρ2 max =0.05) and longer epilepsy duration ( ηρ2 max =0.06) correlated with reduced volume in these regions. Findings were most pronounced in TLE-HS and ETLE with distinct neuroanatomical profiles observed in the posterior lobe. Phenytoin treatment was associated with reduced posterior lobe volume. Cerebellum volume correlated with cerebral cortical thinning more strongly in the epilepsy cohort than in controls., Significance: We provide robust evidence of deep cerebellar and posterior lobe subregional grey matter volume loss in patients with chronic epilepsy. Volume loss was maximal for posterior subregions implicated in non-motor functions, relative to motor regions of both the anterior and posterior lobe. Associations between cerebral and cerebellar changes, and variability of neuroanatomical profiles across epilepsy syndromes argue for more precise incorporation of cerebellum subregions into neurobiological models of epilepsy., Competing Interests: L.Vivash. reports research funding from Biogen Australia, Life Molecular Imaging and Eisai. T.J. O’Brien has received consulting fees from Eisai, UCB, Supernus, Biogen, ES Therapeutics, Epidarex, LivaNova, Kinoxis Therapeutics. He participates on the Data Safety Monitoring Board for ES Therapeutics, Kinoxis Therapeutics. He has served as President (past) for Epilepsy Society of Australia, and is the current chair for Australian Epilepsy Clinical Trials Network (AECTN) and the American Epilepsy Society (Translational Research Committee). B. Bender is the cofounder of AIRAmed GmbH, a company that offers brain segmentation. P. Martin. has received honorary as an advisory board member from Biogen unrelated to the submitted work. P. Striano received speaker fees and advisory boards for Biomarin, Zogenyx, GW Pharmaceuticals; research funding by ENECTA BV, GW Pharmaceuticals, Kolfarma srl., Eisai. P.M. Thompson received a research grant from Biogen, Inc., and was a paid consultant for Kairos Venture Capital, Inc., USA, for projects unrelated to this work. C.L. Yasuda has received personal payments from Torrent, Zodiac and UCB. S.M Sisodiya has received research grants from UCB Pharma and Jazz Pharmaceuticals, speakers fees from UCB, Eisai and Zogenix; honoraria or other fees from Eisai, Jazz Pharma, Stoke Therapeutics, UCB and Zogenix. (payments to institution) The remaining authors have no conflicts of interest.- Published
- 2023
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122. Identifying cellular markers of focal cortical dysplasia type II with cell-type deconvolution and single-cell signatures.
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Galvão IC, Kandratavicius L, Messias LA, Athié MCP, Assis-Mendonça GR, Alvim MKM, Ghizoni E, Tedeschi H, Yasuda CL, Cendes F, Vieira AS, Rogerio F, Lopes-Cendes I, and Veiga DFT
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- Humans, Gliosis, Neuroglia, Focal Cortical Dysplasia, Malformations of Cortical Development, Group I
- Abstract
Focal cortical dysplasia (FCD) is a brain malformation that causes medically refractory epilepsy. FCD is classified into three categories based on structural and cellular abnormalities, with FCD type II being the most common and characterized by disrupted organization of the cortex and abnormal neuronal development. In this study, we employed cell-type deconvolution and single-cell signatures to analyze bulk RNA-seq from multiple transcriptomic studies, aiming to characterize the cellular composition of brain lesions in patients with FCD IIa and IIb subtypes. Our deconvolution analyses revealed specific cellular changes in FCD IIb, including neuronal loss and an increase in reactive astrocytes (astrogliosis) when compared to FCD IIa. Astrogliosis in FCD IIb was further supported by a gene signature analysis and histologically confirmed by glial fibrillary acidic protein (GFAP) immunostaining. Overall, our findings demonstrate that FCD II subtypes exhibit differential neuronal and glial compositions, with astrogliosis emerging as a hallmark of FCD IIb. These observations, validated in independent patient cohorts and confirmed using immunohistochemistry, offer novel insights into the involvement of glial cells in FCD type II pathophysiology and may contribute to the development of targeted therapies for this condition., (© 2023. Springer Nature Limited.)
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- 2023
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123. Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression.
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Larivière S, Royer J, Rodríguez-Cruces R, Paquola C, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda CL, Bonilha L, Gleichgerrcht E, Focke NK, Domin M, von Podewills F, Langner S, Rummel C, Wiest R, Martin P, Kotikalapudi R, O'Brien TJ, Sinclair B, Vivash L, Desmond PM, Lui E, Vaudano AE, Meletti S, Tondelli M, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kälviäinen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Winston GP, Griffin A, Singh A, Tiwari VK, Kreilkamp BAK, Lenge M, Guerrini R, Hamandi K, Foley S, Rüber T, Weber B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Severino M, Striano P, Tortora D, Kaestner E, Hatton SN, Vos SB, Caciagli L, Duncan JS, Whelan CD, Thompson PM, Sisodiya SM, Bernasconi A, Labate A, McDonald CR, Bernasconi N, and Bernhardt BC
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- Adult, Gene Expression, Humans, Immunoglobulin E, Magnetic Resonance Imaging, Nerve Net, Connectome, Epilepsy, Epilepsy, Generalized genetics, Epilepsy, Temporal Lobe diagnosis, Epilepsy, Temporal Lobe genetics
- Abstract
Epilepsy is associated with genetic risk factors and cortico-subcortical network alterations, but associations between neurobiological mechanisms and macroscale connectomics remain unclear. This multisite ENIGMA-Epilepsy study examined whole-brain structural covariance networks in patients with epilepsy and related findings to postmortem epilepsy risk gene expression patterns. Brain network analysis included 578 adults with temporal lobe epilepsy (TLE), 288 adults with idiopathic generalized epilepsy (IGE), and 1328 healthy controls from 18 centres worldwide. Graph theoretical analysis of structural covariance networks revealed increased clustering and path length in orbitofrontal and temporal regions in TLE, suggesting a shift towards network regularization. Conversely, people with IGE showed decreased clustering and path length in fronto-temporo-parietal cortices, indicating a random network configuration. Syndrome-specific topological alterations reflected expression patterns of risk genes for hippocampal sclerosis in TLE and for generalized epilepsy in IGE. These imaging-transcriptomic signatures could potentially guide diagnosis or tailor therapeutic approaches to specific epilepsy syndromes., (© 2022. The Author(s).)
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- 2022
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124. Junctional instability in neuroepithelium and network hyperexcitability in a focal cortical dysplasia human model.
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Avansini SH, Puppo F, Adams JW, Vieira AS, Coan AC, Rogerio F, Torres FR, Araújo PAOR, Martin M, Montenegro MA, Yasuda CL, Tedeschi H, Ghizoni E, França AFEC, Alvim MKM, Athié MC, Rocha CS, Almeida VS, Dias EV, Delay L, Molina E, Yaksh TL, Cendes F, Lopes Cendes I, and Muotri AR
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- Brain, Humans, Infant, Newborn, Neurons, Epilepsy, Malformations of Cortical Development, Malformations of Cortical Development, Group I
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Focal cortical dysplasia is a highly epileptogenic cortical malformation with few treatment options. Here, we generated human cortical organoids from patients with focal cortical dysplasia type II. Using this human model, we mimicked some focal cortical dysplasia hallmarks, such as impaired cell proliferation, the presence of dysmorphic neurons and balloon cells, and neuronal network hyperexcitability. Furthermore, we observed alterations in the adherens junctions zonula occludens-1 and partitioning defective 3, reduced polarization of the actin cytoskeleton, and fewer synaptic puncta. Focal cortical dysplasia cortical organoids showed downregulation of the small GTPase RHOA, a finding that was confirmed in brain tissue resected from these patients. Functionally, both spontaneous and optogenetically-evoked electrical activity revealed hyperexcitability and enhanced network connectivity in focal cortical dysplasia organoids. Taken together, our findings suggest a ventricular zone instability in tissue cohesion of neuroepithelial cells, leading to a maturational arrest of progenitors or newborn neurons, which may predispose to cellular and functional immaturity and compromise the formation of neural networks in focal cortical dysplasia., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain.)
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- 2022
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125. A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.
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Altmann A, Ryten M, Di Nunzio M, Ravizza T, Tolomeo D, Reynolds RH, Somani A, Bacigaluppi M, Iori V, Micotti E, Di Sapia R, Cerovic M, Palma E, Ruffolo G, Botía JA, Absil J, Alhusaini S, Alvim MKM, Auvinen P, Bargallo N, Bartolini E, Bender B, Bergo FPG, Bernardes T, Bernasconi A, Bernasconi N, Bernhardt BC, Blackmon K, Braga B, Caligiuri ME, Calvo A, Carlson C, Carr SJA, Cavalleri GL, Cendes F, Chen J, Chen S, Cherubini A, Concha L, David P, Delanty N, Depondt C, Devinsky O, Doherty CP, Domin M, Focke NK, Foley S, Franca W, Gambardella A, Guerrini R, Hamandi K, Hibar DP, Isaev D, Jackson GD, Jahanshad N, Kälviäinen R, Keller SS, Kochunov P, Kotikalapudi R, Kowalczyk MA, Kuzniecky R, Kwan P, Labate A, Langner S, Lenge M, Liu M, Martin P, Mascalchi M, Meletti S, Morita-Sherman ME, O'Brien TJ, Pariente JC, Richardson MP, Rodriguez-Cruces R, Rummel C, Saavalainen T, Semmelroch MK, Severino M, Striano P, Thesen T, Thomas RH, Tondelli M, Tortora D, Vaudano AE, Vivash L, von Podewils F, Wagner J, Weber B, Wiest R, Yasuda CL, Zhang G, Zhang J, Leu C, Avbersek A, Thom M, Whelan CD, Thompson P, McDonald CR, Vezzani A, and Sisodiya SM
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- Animals, Brain, Endothelial Cells, Mice, Seizures, Epilepsy metabolism, Microglia metabolism
- Abstract
Aims: The causes of distinct patterns of reduced cortical thickness in the common human epilepsies, detectable on neuroimaging and with important clinical consequences, are unknown. We investigated the underlying mechanisms of cortical thinning using a systems-level analysis., Methods: Imaging-based cortical structural maps from a large-scale epilepsy neuroimaging study were overlaid with highly spatially resolved human brain gene expression data from the Allen Human Brain Atlas. Cell-type deconvolution, differential expression analysis and cell-type enrichment analyses were used to identify differences in cell-type distribution. These differences were followed up in post-mortem brain tissue from humans with epilepsy using Iba1 immunolabelling. Furthermore, to investigate a causal effect in cortical thinning, cell-type-specific depletion was used in a murine model of acquired epilepsy., Results: We identified elevated fractions of microglia and endothelial cells in regions of reduced cortical thickness. Differentially expressed genes showed enrichment for microglial markers and, in particular, activated microglial states. Analysis of post-mortem brain tissue from humans with epilepsy confirmed excess activated microglia. In the murine model, transient depletion of activated microglia during the early phase of the disease development prevented cortical thinning and neuronal cell loss in the temporal cortex. Although the development of chronic seizures was unaffected, the epileptic mice with early depletion of activated microglia did not develop deficits in a non-spatial memory test seen in epileptic mice not depleted of microglia., Conclusions: These convergent data strongly implicate activated microglia in cortical thinning, representing a new dimension for concern and disease modification in the epilepsies, potentially distinct from seizure control., (© 2021 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society.)
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- 2022
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126. International Multicenter Analysis of Brain Structure Across Clinical Stages of Parkinson's Disease.
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Laansma MA, Bright JK, Al-Bachari S, Anderson TJ, Ard T, Assogna F, Baquero KA, Berendse HW, Blair J, Cendes F, Dalrymple-Alford JC, de Bie RMA, Debove I, Dirkx MF, Druzgal J, Emsley HCA, Garraux G, Guimarães RP, Gutman BA, Helmich RC, Klein JC, Mackay CE, McMillan CT, Melzer TR, Parkes LM, Piras F, Pitcher TL, Poston KL, Rango M, Ribeiro LF, Rocha CS, Rummel C, Santos LSR, Schmidt R, Schwingenschuh P, Spalletta G, Squarcina L, van den Heuvel OA, Vriend C, Wang JJ, Weintraub D, Wiest R, Yasuda CL, Jahanshad N, Thompson PM, and van der Werf YD
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- Brain diagnostic imaging, Brain pathology, Humans, Magnetic Resonance Imaging, Neuroimaging, Thalamus pathology, Parkinson Disease complications
- Abstract
Background: Brain structure abnormalities throughout the course of Parkinson's disease have yet to be fully elucidated., Objective: Using a multicenter approach and harmonized analysis methods, we aimed to shed light on Parkinson's disease stage-specific profiles of pathology, as suggested by in vivo neuroimaging., Methods: Individual brain MRI and clinical data from 2357 Parkinson's disease patients and 1182 healthy controls were collected from 19 sources. We analyzed regional cortical thickness, cortical surface area, and subcortical volume using mixed-effects models. Patients grouped according to Hoehn and Yahr stage were compared with age- and sex-matched controls. Within the patient sample, we investigated associations with Montreal Cognitive Assessment score., Results: Overall, patients showed a thinner cortex in 38 of 68 regions compared with controls (d
max = -0.20, dmin = -0.09). The bilateral putamen (dleft = -0.14, dright = -0.14) and left amygdala (d = -0.13) were smaller in patients, whereas the left thalamus was larger (d = 0.13). Analysis of staging demonstrated an initial presentation of thinner occipital, parietal, and temporal cortices, extending toward rostrally located cortical regions with increased disease severity. From stage 2 and onward, the bilateral putamen and amygdala were consistently smaller with larger differences denoting each increment. Poorer cognition was associated with widespread cortical thinning and lower volumes of core limbic structures., Conclusions: Our findings offer robust and novel imaging signatures that are generally incremental across but in certain regions specific to disease stages. Our findings highlight the importance of adequately powered multicenter collaborations. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)- Published
- 2021
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127. Longitudinal analysis of interictal electroencephalograms in patients with temporal lobe epilepsy with hippocampal sclerosis.
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Brito MR, Prado TS, Alvim MKM, Santos LSR, Morita-Sherman M, Yasuda CL, and Cendes F
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- Electroencephalography, Hippocampus diagnostic imaging, Hippocampus pathology, Humans, Magnetic Resonance Imaging, Sclerosis pathology, Epilepsy pathology, Epilepsy, Temporal Lobe diagnostic imaging, Epilepsy, Temporal Lobe pathology
- Abstract
Background: While studies have shown the progression of atrophy in temporal lobe epilepsy (TLE) with hippocampal sclerosis (HS), little is known about the long-term dynamics of interictal epileptiform discharges (IEDs)., Objectives: To investigate long-term IEDs distribution in routine EEGs., Methods: We evaluated 314 patients with TLE and MRI signs of HS (TLE-HS). Six had bilateral, 163 had left, and 145 had right HS. We analyzed 3655 routine EEGs (average 11.6 EEGs/patient). The EEGs were classified into four groups: (i) ipsilateral-IEDs (n = 1485), EEGs with only IEDs ipsilateral to the HS; (ii) bilateral-IEDs (n = 390); (iii) contralateral-IEDs (n = 186); and (iv) normal-EEGs (n = 1594). The duration of epilepsy at the time of the EEG (average 27.9 years) was divided into four groups: (a) <8 years (n = 140), (b) 9-17 years (n = 505), (c) 18-29 years (n = 1165), and (d) >30 years (n = 1845). We performed ANOVA with Tukey's pairwise comparisons and linear regression analysis between the duration of epilepsy and the EEG groups., Results: The ANOVA showed a difference in the distribution of IEDs over time (p < 0.0001). While there were no significant changes in the relative numbers of bilateral and contralateral-IEDs combined, there was a significant increase in ipsilateral-IEDs (p < 0.0001) and a decrease in normal-EEGs (p < 0.0001) over time. The linear regression analysis confirmed that the proportion of ipsilateral-IEDs (p < 0.0001), and to a lesser extent, bilateral-IEDs (p = 0.0002), increased over time, while contralateral-IEDs were unchanged (p = 0.923)., Conclusions: Contrary to our expectations, contralateral-IEDs remained stable over time, whereas normal-EEGs decreased and ipsilateral-IEDs increased. Contralateral-IEDs may reflect early abnormalities and not epilepsy progression., (Copyright © 2021 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2021
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128. White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study.
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Hatton SN, Huynh KH, Bonilha L, Abela E, Alhusaini S, Altmann A, Alvim MKM, Balachandra AR, Bartolini E, Bender B, Bernasconi N, Bernasconi A, Bernhardt B, Bargallo N, Caldairou B, Caligiuri ME, Carr SJA, Cavalleri GL, Cendes F, Concha L, Davoodi-Bojd E, Desmond PM, Devinsky O, Doherty CP, Domin M, Duncan JS, Focke NK, Foley SF, Gambardella A, Gleichgerrcht E, Guerrini R, Hamandi K, Ishikawa A, Keller SS, Kochunov PV, Kotikalapudi R, Kreilkamp BAK, Kwan P, Labate A, Langner S, Lenge M, Liu M, Lui E, Martin P, Mascalchi M, Moreira JCV, Morita-Sherman ME, O'Brien TJ, Pardoe HR, Pariente JC, Ribeiro LF, Richardson MP, Rocha CS, Rodríguez-Cruces R, Rosenow F, Severino M, Sinclair B, Soltanian-Zadeh H, Striano P, Taylor PN, Thomas RH, Tortora D, Velakoulis D, Vezzani A, Vivash L, von Podewils F, Vos SB, Weber B, Winston GP, Yasuda CL, Zhu AH, Thompson PM, Whelan CD, Jahanshad N, Sisodiya SM, and McDonald CR
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- Adult, Diffusion Magnetic Resonance Imaging methods, Female, Humans, Image Interpretation, Computer-Assisted methods, Male, Middle Aged, Brain pathology, Epileptic Syndromes pathology, White Matter pathology
- Abstract
The epilepsies are commonly accompanied by widespread abnormalities in cerebral white matter. ENIGMA-Epilepsy is a large quantitative brain imaging consortium, aggregating data to investigate patterns of neuroimaging abnormalities in common epilepsy syndromes, including temporal lobe epilepsy, extratemporal epilepsy, and genetic generalized epilepsy. Our goal was to rank the most robust white matter microstructural differences across and within syndromes in a multicentre sample of adult epilepsy patients. Diffusion-weighted MRI data were analysed from 1069 healthy controls and 1249 patients: temporal lobe epilepsy with hippocampal sclerosis (n = 599), temporal lobe epilepsy with normal MRI (n = 275), genetic generalized epilepsy (n = 182) and non-lesional extratemporal epilepsy (n = 193). A harmonized protocol using tract-based spatial statistics was used to derive skeletonized maps of fractional anisotropy and mean diffusivity for each participant, and fibre tracts were segmented using a diffusion MRI atlas. Data were harmonized to correct for scanner-specific variations in diffusion measures using a batch-effect correction tool (ComBat). Analyses of covariance, adjusting for age and sex, examined differences between each epilepsy syndrome and controls for each white matter tract (Bonferroni corrected at P < 0.001). Across 'all epilepsies' lower fractional anisotropy was observed in most fibre tracts with small to medium effect sizes, especially in the corpus callosum, cingulum and external capsule. There were also less robust increases in mean diffusivity. Syndrome-specific fractional anisotropy and mean diffusivity differences were most pronounced in patients with hippocampal sclerosis in the ipsilateral parahippocampal cingulum and external capsule, with smaller effects across most other tracts. Individuals with temporal lobe epilepsy and normal MRI showed a similar pattern of greater ipsilateral than contralateral abnormalities, but less marked than those in patients with hippocampal sclerosis. Patients with generalized and extratemporal epilepsies had pronounced reductions in fractional anisotropy in the corpus callosum, corona radiata and external capsule, and increased mean diffusivity of the anterior corona radiata. Earlier age of seizure onset and longer disease duration were associated with a greater extent of diffusion abnormalities in patients with hippocampal sclerosis. We demonstrate microstructural abnormalities across major association, commissural, and projection fibres in a large multicentre study of epilepsy. Overall, patients with epilepsy showed white matter abnormalities in the corpus callosum, cingulum and external capsule, with differing severity across epilepsy syndromes. These data further define the spectrum of white matter abnormalities in common epilepsy syndromes, yielding more detailed insights into pathological substrates that may explain cognitive and psychiatric co-morbidities and be used to guide biomarker studies of treatment outcomes and/or genetic research., (© The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please email: journals.permissions@oup.com.)
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- 2020
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129. The genetic architecture of the human cerebral cortex.
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Grasby KL, Jahanshad N, Painter JN, Colodro-Conde L, Bralten J, Hibar DP, Lind PA, Pizzagalli F, Ching CRK, McMahon MAB, Shatokhina N, Zsembik LCP, Thomopoulos SI, Zhu AH, Strike LT, Agartz I, Alhusaini S, Almeida MAA, Alnæs D, Amlien IK, Andersson M, Ard T, Armstrong NJ, Ashley-Koch A, Atkins JR, Bernard M, Brouwer RM, Buimer EEL, Bülow R, Bürger C, Cannon DM, Chakravarty M, Chen Q, Cheung JW, Couvy-Duchesne B, Dale AM, Dalvie S, de Araujo TK, de Zubicaray GI, de Zwarte SMC, den Braber A, Doan NT, Dohm K, Ehrlich S, Engelbrecht HR, Erk S, Fan CC, Fedko IO, Foley SF, Ford JM, Fukunaga M, Garrett ME, Ge T, Giddaluru S, Goldman AL, Green MJ, Groenewold NA, Grotegerd D, Gurholt TP, Gutman BA, Hansell NK, Harris MA, Harrison MB, Haswell CC, Hauser M, Herms S, Heslenfeld DJ, Ho NF, Hoehn D, Hoffmann P, Holleran L, Hoogman M, Hottenga JJ, Ikeda M, Janowitz D, Jansen IE, Jia T, Jockwitz C, Kanai R, Karama S, Kasperaviciute D, Kaufmann T, Kelly S, Kikuchi M, Klein M, Knapp M, Knodt AR, Krämer B, Lam M, Lancaster TM, Lee PH, Lett TA, Lewis LB, Lopes-Cendes I, Luciano M, Macciardi F, Marquand AF, Mathias SR, Melzer TR, Milaneschi Y, Mirza-Schreiber N, Moreira JCV, Mühleisen TW, Müller-Myhsok B, Najt P, Nakahara S, Nho K, Olde Loohuis LM, Orfanos DP, Pearson JF, Pitcher TL, Pütz B, Quidé Y, Ragothaman A, Rashid FM, Reay WR, Redlich R, Reinbold CS, Repple J, Richard G, Riedel BC, Risacher SL, Rocha CS, Mota NR, Salminen L, Saremi A, Saykin AJ, Schlag F, Schmaal L, Schofield PR, Secolin R, Shapland CY, Shen L, Shin J, Shumskaya E, Sønderby IE, Sprooten E, Tansey KE, Teumer A, Thalamuthu A, Tordesillas-Gutiérrez D, Turner JA, Uhlmann A, Vallerga CL, van der Meer D, van Donkelaar MMJ, van Eijk L, van Erp TGM, van Haren NEM, van Rooij D, van Tol MJ, Veldink JH, Verhoef E, Walton E, Wang M, Wang Y, Wardlaw JM, Wen W, Westlye LT, Whelan CD, Witt SH, Wittfeld K, Wolf C, Wolfers T, Wu JQ, Yasuda CL, Zaremba D, Zhang Z, Zwiers MP, Artiges E, Assareh AA, Ayesa-Arriola R, Belger A, Brandt CL, Brown GG, Cichon S, Curran JE, Davies GE, Degenhardt F, Dennis MF, Dietsche B, Djurovic S, Doherty CP, Espiritu R, Garijo D, Gil Y, Gowland PA, Green RC, Häusler AN, Heindel W, Ho BC, Hoffmann WU, Holsboer F, Homuth G, Hosten N, Jack CR Jr, Jang M, Jansen A, Kimbrel NA, Kolskår K, Koops S, Krug A, Lim KO, Luykx JJ, Mathalon DH, Mather KA, Mattay VS, Matthews S, Mayoral Van Son J, McEwen SC, Melle I, Morris DW, Mueller BA, Nauck M, Nordvik JE, Nöthen MM, O'Leary DS, Opel N, Martinot MP, Pike GB, Preda A, Quinlan EB, Rasser PE, Ratnakar V, Reppermund S, Steen VM, Tooney PA, Torres FR, Veltman DJ, Voyvodic JT, Whelan R, White T, Yamamori H, Adams HHH, Bis JC, Debette S, Decarli C, Fornage M, Gudnason V, Hofer E, Ikram MA, Launer L, Longstreth WT, Lopez OL, Mazoyer B, Mosley TH, Roshchupkin GV, Satizabal CL, Schmidt R, Seshadri S, Yang Q, Alvim MKM, Ames D, Anderson TJ, Andreassen OA, Arias-Vasquez A, Bastin ME, Baune BT, Beckham JC, Blangero J, Boomsma DI, Brodaty H, Brunner HG, Buckner RL, Buitelaar JK, Bustillo JR, Cahn W, Cairns MJ, Calhoun V, Carr VJ, Caseras X, Caspers S, Cavalleri GL, Cendes F, Corvin A, Crespo-Facorro B, Dalrymple-Alford JC, Dannlowski U, de Geus EJC, Deary IJ, Delanty N, Depondt C, Desrivières S, Donohoe G, Espeseth T, Fernández G, Fisher SE, Flor H, Forstner AJ, Francks C, Franke B, Glahn DC, Gollub RL, Grabe HJ, Gruber O, Håberg AK, Hariri AR, Hartman CA, Hashimoto R, Heinz A, Henskens FA, Hillegers MHJ, Hoekstra PJ, Holmes AJ, Hong LE, Hopkins WD, Hulshoff Pol HE, Jernigan TL, Jönsson EG, Kahn RS, Kennedy MA, Kircher TTJ, Kochunov P, Kwok JBJ, Le Hellard S, Loughland CM, Martin NG, Martinot JL, McDonald C, McMahon KL, Meyer-Lindenberg A, Michie PT, Morey RA, Mowry B, Nyberg L, Oosterlaan J, Ophoff RA, Pantelis C, Paus T, Pausova Z, Penninx BWJH, Polderman TJC, Posthuma D, Rietschel M, Roffman JL, Rowland LM, Sachdev PS, Sämann PG, Schall U, Schumann G, Scott RJ, Sim K, Sisodiya SM, Smoller JW, Sommer IE, St Pourcain B, Stein DJ, Toga AW, Trollor JN, Van der Wee NJA, van 't Ent D, Völzke H, Walter H, Weber B, Weinberger DR, Wright MJ, Zhou J, Stein JL, Thompson PM, and Medland SE
- Subjects
- Attention Deficit Disorder with Hyperactivity genetics, Brain Mapping, Cognition, Genetic Loci, Genome-Wide Association Study, Humans, Magnetic Resonance Imaging, Organ Size genetics, Parkinson Disease genetics, Cerebral Cortex anatomy & histology, Genetic Variation
- Abstract
The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder., (Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.)
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- 2020
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130. Automated Online Quantification Method for 18 F-FDG Positron Emission Tomography/CT Improves Detection of the Epileptogenic Zone in Patients with Pharmacoresistant Epilepsy.
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Mendes Coelho VC, Morita ME, Amorim BJ, Ramos CD, Yasuda CL, Tedeschi H, Ghizoni E, and Cendes F
- Abstract
Aims: To assess the validity of an online method to quantitatively evaluate cerebral hypometabolism in patients with pharmacoresistant focal epilepsy as a complement to the visual analysis of the
18 F-FDG positron emission tomography (PET)/CT exam., Methods: A total of 39 patients with pharmacoresistant epilepsy and probable focal cortical dysplasia [22 patients with frontal lobe epilepsy (FLE) and 17 with temporal lobe epilepsy (TLE)] underwent a presurgical evaluation including EEG, video-EEG, MRI, and18 F-FDG PET/CT. We conducted the automated quantification of their18 F-FDG PET/CT data and compared the results with those of the visual-PET analysis conducted by experienced nuclear medicine physicians. For each patient group, we calculated Cohen's Kappa coefficient for the visual and quantitative analyses, as well as each method's sensitivity, specificity, and positive and negative predictive values., Results: For the TLE group, both the visual and quantitative analyses showed high agreement. Thus, although the quantitative analysis could be used as a complement, the visual analysis on its own was consistent and precise. For the FLE group, on the other hand, the visual analysis categorized almost half of the cases as normal, revealing very low agreement. For those patients, the quantitative analysis proved critical to identify the focal hypometabolism characteristic of the epileptogenic zone. Our results suggest that the quantitative analysis of18 F-FDG PET/CT data is critical for patients with extratemporal epilepsies, and especially those with subtle MRI findings. Furthermore, it can easily be used during the routine clinical evaluation of18 F-FDG PET/CT exams., Significance: Our results show that quantification of18 F-FDG PET is an informative complementary method that can be added to the routine visual evaluation of patients with subtle lesions, particularly those in the frontal lobes.- Published
- 2017
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131. Neuroanatomical correlates of depression in Friedreich's ataxia: a voxel-based morphometry study.
- Author
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Silva CB, Yasuda CL, D'Abreu A, Cendes F, Lopes-Cendes I, and França MC Jr
- Subjects
- Adult, Case-Control Studies, Cluster Analysis, Disability Evaluation, Female, Humans, Imaging, Three-Dimensional, Magnetic Resonance Imaging, Male, Middle Aged, Severity of Illness Index, Statistics, Nonparametric, Young Adult, Brain pathology, Depression etiology, Depression pathology, Friedreich Ataxia complications, Friedreich Ataxia pathology
- Abstract
Affective disorders have been increasingly recognized in neurodegenerative diseases and often result in poor quality of life. However, the frequency, clinical relevance, and anatomical substrate of depression in Friedreich's ataxia were not yet evaluated. We assessed 22 patients with Friedreich's ataxia for major depression using Beck Depression Inventory and cerebral 3 T MRI scans. We then employed whole-brain voxel-based morphometry analyses on volumetric T1 datasets to compare tissue loss between patients with and without major depression. Patients (36.3 %) fulfilled criteria for major depression (8/22). Mean Beck Depression Inventory (BDI) score was 9.63 ± 8.95 and the depressive group had significantly higher score compared to non-depressive group (18.5 ± 8.6 vs 4.4 ± 2.9, p < 0.001). There was no correlation between Beck Depression Inventory score and age of patients, ataxia severity, age at onset, or duration of the disease. The comparison between patient groups found no significant differences of white matter volumes. In contrast, we found reduction of gray matter volumes in the depressive group in medial and orbital region of frontal lobe and anterior cingulate gyri (p < 0.001). Regression analyses have shown that BDI scores were inversely correlated with gray matter volume at right superior frontal gyrus. Major depression is frequent in Friedreich's ataxia and possibly under recognized. Our results strongly suggest that this may not be a simply reactive phenomenon, but rather associated to structural abnormalities.
- Published
- 2013
- Full Text
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