共查询到20条相似文献,搜索用时 31 毫秒
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Federico Zara Nicola Specchio Pasquale Striano Angela Robbiano Elena Gennaro Roberta Paravidino Nicola Vanni Francesca Beccaria Giuseppe Capovilla Amedeo Bianchi Lorella Caffi Viviana Cardilli Francesca Darra Bernardo Dalla Bernardina Lucia Fusco Roberto Gaggero Lucio Giordano Renzo Guerrini Gemma Incorpora Massimo Mastrangelo Luigina Spaccini Anna Maria Laverda Marilena Vecchi Francesca Vanadia Pierangelo Veggiotti Maurizio Viri Guya Occhi Mauro Budetta Maurizio Taglialatela Domenico A. Coviello Federico Vigevano Carlo Minetti 《Epilepsia》2013,54(3):425-436
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R. Piredda P. Desmarais M. Masellis C. Gasca‐Salas 《European journal of neurology》2020,27(2):229-234
The aim was to review the existing reports on cognitive and behavioural symptoms in monogenic forms of Parkinson’s disease (PD) and to identify recurring patterns of clinical manifestations in those with specific mutations. A systematic literature search was conducted to retrieve observational studies of monogenic PD. Data pertaining to cognitive and psychiatric manifestations were extracted using standardized templates. The PRISMA guidelines were followed. Of the 1889 citations retrieved, 95 studies on PD‐related gene mutations were included: 35 in SNCA, 35 in LRRK2, four in VPS35, 10 in Parkin, three in DJ1 and eight in PINK1. Nineteen studies (20%) provided adequate data from comprehensive cognitive assessment and 31 studies (32.6%) outlined psychiatric manifestations through the use of neuropsychiatric scales. Cognitive impairment was reported in all monogenic PD forms with variable rates (58.8% PINK1, 53.9% SNCA, 50% DJ1, 29.2% VPS35, 15.7% LRRK2 and 7.4% Parkin). In this regard, executive functions and attention were the domains most affected. With respect to psychiatric symptoms, depression was the most frequent symptom, occurring in 37.5% of PINK1 cases and 41.7% of VPS35 and LRRK2 cases. Co‐occurrence of cognitive decline with visual hallucinations was evidenced. Widespread accumulation of Lewy bodies, distinctive of SNCA, PINK1 and DJ1 mutations, results in higher rates of cognitive impairment. Similarly, a higher degree of visual hallucinations is observed in SNCA mutations, probably owing to the more widespread accumulation. The lower rates of α‐synuclein pathology in LRRK2 and Parkin may underpin the more benign disease course in these patients. 相似文献
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Sonu Bhaskar Kolsoum Saeidi Parvin Borhani Houshang Amiri 《The European journal of neuroscience》2013,38(11):3540-3551
Migraine is characterised by debilitating pain, which affects the quality of life in affected patients in both the western and the eastern worlds. The purpose of this article is to give a detailed outline of the pathophysiology of migraine pain, which is one of the most confounding pathologies among pain disorders in clinical conditions. We critically evaluate the scientific basis of various theories concerning migraine pathophysiology, and draw insights from brain imaging approaches that have unraveled the prevalence of cortical spreading depression (CSD) in migraine. The findings supporting the role of CSD as a physiological substrate in clinical pain are discussed. We also give an exhaustive overview of brain imaging approaches that have been employed to solve the genesis of migraine pain, and its possible links to the brainstem, the neocortex, genetic endophenotypes, and pathogenetic factors (such as dopaminergic hypersensitivity). Furthermore, a roadmap is proposed to provide a better understanding of pain pathophysiology in migraine, to enable the development of strategies using leads from brain imaging studies for the identification of early biomarkers, efficient prognosis, and treatment planning, which eventually may help in alleviating some of the devastating impact of pain morbidity in patients afflicted with migraine. 相似文献
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Prasanna Jayakar William D. Gaillard Manjari Tripathi Mark H. Libenson Gary W. Mathern J. Helen Cross The Task Force for Paediatric Epilepsy Surgery Commission for Paediatrics and the Diagnostic Commission of the International League Against Epilepsy 《Epilepsia》2014,55(4):507-518
Epilepsy surgery is highly successful in achieving seizure freedom in carefully selected children with drug‐resistant focal epilepsy. Advances in technology have aided presurgical evaluation and increased the number of possible candidates. Many of the tests employed are resource intense, and in specific cases they may be unhelpful or have adverse effects. Some standardization of the evaluation process is thus considered timely. Given the lack of class 1 or 2 evidence defining the relative utility of each test in specific clinicopathologic cohorts, a set of expert recommendations was attempted using consensus among members of the Pediatric Epilepsy Surgery Task Force of the International League Against Epilepsy (ILAE) Commissions of Pediatrics and Diagnostics These recommendations aim to limit fringe over or underutilization of use while retaining substantial flexibility in the use of various tests, in keeping with most standard practices at established pediatric epilepsy centers. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here . 相似文献
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H. G. Vuong T. T. K. Tran H. T. T. Ngo T. Q. Pham T. Nakazawa K.‐M. Fung L. Hassell R. Katoh T. Kondo 《European journal of neurology》2019,26(3):379-387
The clinical outcomes of isocitrate dehydrogenase‐wild‐type (IDH‐wt) lower‐grade glioma (LGG) have been the subject of debate for some time. In this meta‐analysis, we aimed to assess the prognostic values of several known genetic markers (e.g. TERT promoter mutation, H3F3A mutation, CDKN2A loss) in this tumor group. Four electronic databases, including PubMed, Scopus, Web of Science and Virtual Health Library, were searched for relevant articles. Pooled hazard ratio (HR) and corresponding 95% confidence interval (CI) for overall survival were calculated using a random‐effect model weighted by an inverse variance method. A total of 11 studies were finally selected from 2274 articles for meta‐analyses. Several genetic alterations were demonstrated to have a negative impact on prognosis of IDH‐wt LGGs, specifically TERT promoter mutation (HR, 1.96; 95% CI, 1.42–2.70), H3F3A mutation (HR, 3.21; 95% CI, 1.86–5.55) and EGFR amplification (HR, 1.67; 95% CI, 1.02–2.74). However, CDKN loss, ATRX mutation and coexisting gain of chromosome 7/loss of chromosome 10 showed no clinical significance in this glioma entity. Our study results demonstrated that IDH‐wt LGGs are heterogeneous in clinical outcome and not all tumors have a poor prognosis. The presence of TERT promoter mutation, H3F3A mutation and EGFR amplification showed negative prognostic impacts in this tumor entity. These genetic events can be used to better stratify patient outcomes. 相似文献
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Xiao‐Jing He Ling‐Yan Jian Xiao‐Lin He Man Tang Yan Wu Yuan‐Yuan Xu Xiao‐Jie Sun Li‐Mei Zhao 《Epilepsia》2014,55(8):1301-1306
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Changes in orexinergic immunoreactivity of the piglet hypothalamus and pons after exposure to chronic postnatal nicotine and intermittent hypercapnic hypoxia 下载免费PDF全文
Nicholas J. Hunt Benjamin Russell Man K. Du Karen A. Waters Rita Machaalani 《The European journal of neuroscience》2016,43(12):1612-1622
We recently showed that orexin expression in sudden infant death syndrome (SIDS) infants was reduced by 21% in the hypothalamus and by 40–50% in the pons as compared with controls. Orexin maintains wakefulness/sleeping states, arousal, and rapid eye movement sleep, abnormalities of which have been reported in SIDS. This study examined the effects of two prominent risk factors for SIDS, intermittent hypercapnic hypoxia (IHH) (prone‐sleeping) and chronic nicotine exposure (cigarette‐smoking), on orexin A (OxA) and orexin B (OxB) expression in piglets. Piglets were randomly assigned to five groups: saline control (n = 7), air control (n = 7), nicotine [2 mg/kg per day (14 days)] (n = 7), IHH (6 min of 7% O2/8% CO2 alternating with 6‐min periods of breathing air, for four cycles) (n = 7), and the combination of nicotine and IHH (N + IHH) (n = 7). OxA/OxB expression was quantified in the central tuberal hypothalamus [dorsal medial hypothalamus (DMH), perifornical area (PeF), and lateral hypothalamus], and the dorsal raphe, locus coeruleus of the pons. Nicotine and N + IHH exposures significantly increased: (i) orexin expression in the hypothalamus and pons; and (ii) the total number of neurons in the DMH and PeF. IHH decreased orexin expression in the hypothalamus and pons without changing neuronal numbers. Linear relationships existed between the percentage of orexin‐positive neurons and the area of pontine orexin immunoreactivity of control and exposure piglets. These results demonstrate that postnatal nicotine exposure increases the proportion of orexin‐positive neurons in the hypothalamus and fibre expression in the pons, and that IHH exposure does not prevent the nicotine‐induced increase. Thus, although both nicotine and IHH are risk factors for SIDS, it appears they have opposing effects on OxA and OxB expression, with the IHH exposure closely mimicking what we recently found in SIDS. 相似文献
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Accuracy of arterial spin labeling magnetic resonance imaging (MRI) perfusion in detecting the epileptogenic zone in patients with drug‐resistant neocortical epilepsy: comparison with electrophysiological data,structural MRI,SISCOM and FDG‐PET 下载免费PDF全文
A. Sierra‐Marcos M. Carreño X. Setoain A. López‐Rueda J. Aparicio A. Donaire N. Bargalló 《European journal of neurology》2016,23(1):160-167
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Eric A. Horne Jonathan Coy Katie Swinney Susan Fung Allison E. T. Cherry William R. Marrs Alipi V. Naydenov Yi Hsing Lin Xiaocui Sun C. Dirk Keene Eric Grouzmann Paul Muchowski Gillian P. Bates Ken Mackie Nephi Stella 《The European journal of neuroscience》2013,37(3):429-440
Cannabinoid receptor 1 (CB1 receptor) controls several neuronal functions, including neurotransmitter release, synaptic plasticity, gene expression and neuronal viability. Downregulation of CB1 expression in the basal ganglia of patients with Huntington's disease (HD) and animal models represents one of the earliest molecular events induced by mutant huntingtin (mHtt). This early disruption of neuronal CB1 signaling is thought to contribute to HD symptoms and neurodegeneration. Here we determined whether CB1 downregulation measured in patients with HD and mouse models was ubiquitous or restricted to specific striatal neuronal subpopulations. Using unbiased semi‐quantitative immunohistochemistry, we confirmed previous studies showing that CB1 expression is downregulated in medium spiny neurons of the indirect pathway, and found that CB1 is also downregulated in neuropeptide Y (NPY)/neuronal nitric oxide synthase (nNOS)‐expressing interneurons while remaining unchanged in parvalbumin‐ and calretinin‐expressing interneurons. CB1 downregulation in striatal NPY/nNOS‐expressing interneurons occurs in R6/2 mice, HdhQ150/Q150 mice and the caudate nucleus of patients with HD. In R6/2 mice, CB1 downregulation in NPY/nNOS‐expressing interneurons correlates with diffuse expression of mHtt in the soma. This downregulation also occludes the ability of cannabinoid agonists to activate the pro‐survival signaling molecule cAMP response element‐binding protein in NPY/nNOS‐expressing interneurons. Loss of CB1 signaling in NPY/nNOS‐expressing interneurons could contribute to the impairment of basal ganglia functions linked to HD. 相似文献
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