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Ravel Jean-Marie Benkirane Mehdi Calmels Nadège Marelli Cecilia Ory-Magne Fabienne Ewenczyk Claire Halleb Yosra Tison François Lecocq Claire Pische Guillaume Casenave Philippe Chaussenot Annabelle Frismand Solène Tyvaert Louise Larrieu Lise Pointaux Morgane Drouot Nathalie Bossenmeyer-Pourié Carine Oussalah Abderrahim Guéant Jean-Louis Leheup Bruno Bonnet Céline Anheim Mathieu Tranchant Christine Lambert Laëtitia Chelly Jamel Koenig Michel Renaud Mathilde 《Journal of neurology》2021,268(5):1927-1937
Journal of Neurology - STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1... 相似文献
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Mathilde Goudot Solne Frismand Lucie Hopes Antoine Verger Bastien Joubert Jrme Honnorat Louise Tyvaert 《Epileptic Disord》2019,21(5):437-442
Aims. To delineate common epilepsy features associated with the presence of glutamic acid decarboxylase autoantibodies (GAD65‐Ab). Methods. Three consecutive cases of GAD65‐Ab encephalitis patients, followed in our neurological department, were investigated with regards to clinical semiology and EEG. Results. These patients presented new‐onset subtle ictal clinical features. Patients 1 and 2 described prolonged and transitory feelings of “déjà vu ‐ déjà vécu” and a “dreamy state”. Patient 3 was admitted for subsequent transient aphasia events followed by paroxysmal behavioural disturbances. Epileptic origin of the symptoms was confirmed using either a standard EEG (observation of temporal status epilepticus in one case) or a prolonged EEG (focal epileptiform activity during an asymptomatic period for two patients). All patients suffered from clinical focal status epilepticus. Patients 1 and 2 presented with temporo‐mesial seizures in agreement with the definition for limbic encephalitis, whereas Patient 3 presented with neocortical (lateral temporal and frontal lobe) seizures arguing for a non‐limbic encephalitis. A high level of GAD65‐Ab was found in cerebral spinal fluid, confirming a diagnosis of epilepsy associated with GAD65‐Ab encephalitis. Conclusion. Encephalitis seems to be a frequent neurological syndrome associated with GAD65‐Ab disorders. Epilepsy may be more frequent and severe than currently suggested, as ictal semiology may be subtle for these outpatients in whom standard EEG is commonly falsely reassuring. Subtle focal status epilepticus is a particular semiology of the GAD65‐Ab encephalitis spectrum. 相似文献
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Chloé Angelini MD Christelle Marie Durand PhD Patricia Fergelot MD PhD Julie Deforges MLT Anne Vital MD PhD Patrice Menegon MD Elizabeth Sarrazin MD Rémi Bellance MD Stéphane Mathis MD PhD Victoria Gonzalez MD PhD Mathilde Renaud MD PhD Solène Frismand MD Emmanuelle Schmitt MD Marie Rouanet MD Lydie Burglen MD PhD Brigitte Chabrol MD PhD Béatrice Desnous MD PhD Benoît Arveiler PharmD PhD Giovanni Stevanin PhD Isabelle Coupry PhD Cyril Goizet MD PhD 《Movement disorders》2023,38(11):2103-2115
Background
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. MPAN typically appears in the first two decades of life and presents with progressive dystonia-parkinsonism, lower motor neuron signs, optic atrophy, and abnormal iron deposits predominantly in the basal ganglia. MPAN, initially considered as a strictly autosomal recessive disease (AR), turned out to be also dominantly inherited (AD).Objectives
Our aim was to better characterize the clinical, molecular, and functional spectra associated with such dominant pathogenic heterozygous C19orf12 variants.Methods
We collected clinical, imaging, and molecular information of eight individuals from four AD-MPAN families and obtained brain neuropathology results for one. Functional studies, focused on energy and iron metabolism, were conducted on fibroblasts from AD-MPAN patients, AR-MPAN patients, and controls.Results
We identified four heterozygous C19orf12 variants in eight AD-MPAN patients. Two of them carrying the familial variant in mosaic displayed an atypical late-onset phenotype. Fibroblasts from AD-MPAN showed more severe alterations of iron storage metabolism and autophagy compared to AR-MPAN cells.Conclusion
Our data add strong evidence of the realness of AD-MPAN with identification of novel monoallelic C19orf12 variants, including at the mosaic state. This has implications in diagnosis procedures. We also expand the phenotypic spectrum of MPAN to late onset atypical presentations. Finally, we demonstrate for the first time more drastic abnormalities of iron metabolism and autophagy in AD-MPAN than in AR-MPAN. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. 相似文献4.
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Nicolas Carpentier Jacques Jonas Solène Frismand Jean‐Pierre Vignal Estelle Rikir Cédric Baumann Françoise Lapicque Franck Saint‐Marcoux Hervé Vespignani Louis Maillard 《Epilepsia》2013,54(1):e20-e23
The adherence to medication in drug‐resistant focal epilepsy (RFE) remains largely unknown. The present work aimed to assess the frequency of recent adherence to antiepileptic drugs (AEDs) in patients with RFE. This prospective observational study screened all patients with RFE, admitted to the Nancy University Hospital between April 2006 and September 2008, for a 5‐day hospitalization without AED tapering. The adherence to AEDs was assessed by measuring serum drug levels on day 1 (reflecting the recent “at home” adherence) and day 5 (reflecting the individual reference concentration when drug ingestion was supervised). A patient was considered nonadherent if at least one of their serum drug levels was different between days 1 and 5. The day‐1 value was considered different from day 5 when it was at least 30% lower (underdosed) or 30% higher (overdosed). Nonadherent patients were classified as under‐consumers in the case of one or more underdosed day‐1 values, over‐consumers in the case of one or more overdosed day‐1 values, or undefined if they exhibited both underdosed and overdosed day‐1 values. Forty‐four of the 48 screened patients were included. Eighteen (40.9%) of 44 patients were nonadherent. Among them, 12 (66.7%) were over‐consumers, 4 (22.2%) were under‐consumers, and 2 (11.1%) were undefined nonadherents. The study indicates that recent adherence to antiepileptic medication in this group of patients with RFE is poor. Overconsumption is the most frequent form of nonadherence in this population and should be specifically assessed to prevent its possible consequences in terms of AEDs dose‐dependent adverse events. 相似文献
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Muriel Panouillères Solène Frismand Olivier Sillan Christian Urquizar Alain Vighetto Denis Pélisson Caroline Tilikete 《Cerebellum (London, England)》2013,12(4):557-567
Ataxia with oculomotor apraxia type 2 (AOA2) is one of the most frequent autosomal recessive cerebellar ataxias. Oculomotor apraxia refers to horizontal gaze failure due to deficits in voluntary/reactive eye movements. These deficits can manifest as increased latency and/or hypometria of saccades with a staircase pattern and are frequently associated with compensatory head thrust movements. Oculomotor disturbances associated with AOA2 have been poorly studied mainly because the diagnosis of oculomotor apraxia was based on the presence of compensatory head thrusts. The aim of this study was to characterise the nature of horizontal gaze failure in patients with AOA2 and to demonstrate oculomotor apraxia even in the absence of head thrusts. Five patients with AOA2, without head thrusts, were tested in saccadic tasks with the head restrained or free to move and their performance was compared to a group of six healthy participants. The most salient deficit of the patients was saccadic hypometria with a typical staircase pattern. Saccade latency in the patients was longer than controls only for memory-guided saccades. In the head-free condition, head movements were delayed relative to the eye and their amplitude and velocity were strongly reduced compared to controls. Our study emphasises that in AOA2, hypometric saccades with a staircase pattern are a more reliable sign of oculomotor apraxia than head thrust movements. In addition, the variety of eye and head movements’ deficits suggests that, although the main neural degeneration in AOA2 affects the cerebellum, this disease affects other structures. 相似文献
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Right hemispheric dominance of visual phenomena evoked by intracerebral stimulation of the human visual cortex 下载免费PDF全文
Jacques Jonas Solène Frismand Jean‐Pierre Vignal Sophie Colnat‐Coulbois Laurent Koessler Hervé Vespignani Bruno Rossion Louis Maillard 《Human brain mapping》2014,35(7):3360-3371
Electrical brain stimulation can provide important information about the functional organization of the human visual cortex. Here, we report the visual phenomena evoked by a large number (562) of intracerebral electrical stimulations performed at low‐intensity with depth electrodes implanted in the occipito‐parieto‐temporal cortex of 22 epileptic patients. Focal electrical stimulation evoked primarily visual hallucinations with various complexities: simple (spot or blob), intermediary (geometric forms), or complex meaningful shapes (faces); visual illusions and impairments of visual recognition were more rarely observed. With the exception of the most posterior cortical sites, the probability of evoking a visual phenomenon was significantly higher in the right than the left hemisphere. Intermediary and complex hallucinations, illusions, and visual recognition impairments were almost exclusively evoked by stimulation in the right hemisphere. The probability of evoking a visual phenomenon decreased substantially from the occipital pole to the most anterior sites of the temporal lobe, and this decrease was more pronounced in the left hemisphere. The greater sensitivity of the right occipito‐parieto‐temporal regions to intracerebral electrical stimulation to evoke visual phenomena supports a predominant role of right hemispheric visual areas from perception to recognition of visual forms, regardless of visuospatial and attentional factors. Hum Brain Mapp 35:3360–3371, 2014. © 2013 Wiley Periodicals, Inc . 相似文献
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Jean-Charles Lamy PhD Pasquale Varriale PhD Emmanuelle Apartis MD PhD Sophien Mehdi BSc Anne Blancher-Meinadier MD Zuzana Kosutzka MD PhD Bertrand Degos MD PhD Solène Frismand MD Marion Simonetta-Moreau MD PhD Sabine Meunier MD PhD Emmanuel Roze MD PhD Marie Vidailhet MD 《Movement disorders》2021,36(8):1835-1842