Author: "Nathalie Derache" - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Nathalie Derache"' showing total 52 results

Start Over Author "Nathalie Derache"

52 results on '"Nathalie Derache"'

1. Real-World Effectiveness of Natalizumab Extended Interval Dosing in a French Cohort

Author: Juliette Pelle, Anais R. Briant, Pierre Branger, Nathalie Derache, Charlotte Arnaud, Christine Lebrun-Frenay, Mikael Cohen, Lydiane Mondot, Jerome De Seze, Kevin Bigaut, Nicolas Collongues, Laurent Kremer, Damien Ricard, Flavie Bompaire, Charlotte Ohlmann, Magali Sallansonnet-Froment, Jonathan Ciron, Damien Biotti, Beatrice Pignolet, Jean-Jacques Parienti, and Gilles Defer
Subjects: Extended interval dosing, Multiple sclerosis, Natalizumab, Real-world evidence, Neurology. Diseases of the nervous system, RC346-429
Abstract: Abstract Introduction Natalizumab, a therapy for relapsing–remitting multiple sclerosis (RRMS), is associated with a risk of progressive multifocal leukoencephalopathy (PML). Over the last several years, practitioners have used off-label extended interval dosing (EID) of natalizumab to reduce PML risk, despite the absence of a large-scale efficacy evaluation. Methods We conducted a retrospective, multicenter cohort study among adults with RRMS receiving stable standard interval dosing (SID), defined as a ≥ 12-month consecutive period of ≥ 11 natalizumab infusions/year in France. We compared the 12-month risk difference of remaining relapse-free (primary endpoint) between patients who switched to EID (≤ 9 natalizumab infusions) and those who remained on SID, with a noninferiority margin of − 11%. We used propensity score methods such as inverse probability treatment weighting (IPTW) and 1:1 propensity score matching (PSM). Secondary endpoints were annualized relapse rate, disease progression, and safety. Results Baseline characteristics were similar between patients receiving EID (n = 147) and SID (n = 156). The proportion of relapse-free patients 12 months postbaseline was 142/147 in the EID (96.6%) and 144/156 in the SID group (92.3%); risk difference (95% CI) 4.3% (− 1.3 to 9.8%); p
Published: 2023
Full Text: View/download PDF

2. Outcome and risk of recurrence in a large cohort of idiopathic longitudinally extensive transverse myelitis without AQP4/MOG antibodies

Author: Elisabeth Maillart, Françoise Durand-Dubief, Céline Louapre, Bertrand Audoin, Bertrand Bourre, Nathalie Derache, Jonathan Ciron, Nicolas Collongues, Jérome de Sèze, Mikael Cohen, Christine Lebrun-Frenay, Nawel Hadhoum, Hélène Zéphir, Romain Deschamps, Clarisse Carra-Dallière, Pierre Labauge, Philippe Kerschen, Alexis Montcuquet, Sandrine Wiertlewski, David Laplaud, Gwenaëlle Runavot, Sandra Vukusic, Caroline Papeix, Romain Marignier, and on behalf of the OFSEP, SFSEP, and NOMADMUS study groups
Subjects: Longitudinally extensive transverse myelitis, Seronegative, Neuromyelitis optica, Outcome, Treatment, Neurology. Diseases of the nervous system, RC346-429
Abstract: Abstract Background Longitudinally extensive transverse myelitis (LETM) is classically related to aquaporin (AQP4)-antibodies (Ab) neuromyelitis optica spectrum disorders (NMOSD) or more recently to myelin oligodendrocyte glycoprotein (MOG)-Ab associated disease. However, some patients remain negative for any diagnosis, despite a large work-up including AQP4-Ab and MOG-Ab. Data about natural history, disability outcome, and treatment are limited in this group of patients. We aimed to (1) describe clinical, biological, and radiological features of double seronegative LETM patients; (2) assess the clinical course and identify prognostic factors; and (3) assess the risk of recurrence, according to maintenance immunosuppressive therapy. Methods Retrospective evaluation of patients with a first episode of LETM, tested negative for AQP-Ab and MOG-Ab, from the French nationwide observatory study NOMADMUS. Results Fifty-three patients (median age 38 years (range 16–80)) with double seronegative LETM were included. Median nadir EDSS at onset was 6.0 (1–8.5), associated to a median EDSS at last follow-up of 4.0 (0–8). Recurrence was observed in 24.5% of patients in the 18 following months, with a median time to first relapse of 5.7 months. The risk of recurrence was lower in the group of patients treated early with an immunosuppressive drug (2/22, 9%), in comparison with untreated patients (10/31, 32%). Conclusions A first episode of a double seronegative LETM is associated to a severe outcome and a high rate of relapse in the following 18 months, suggesting that an early immunosuppressive treatment may be beneficial in that condition.
Published: 2020
Full Text: View/download PDF

3. Anti-Argonaute antibodies as a potential biomarker in NMOSD

Author: Sara Carta, Do Le Duy, Veronique Rogemond, Nathalie Derache, Hugo Chaumont, Agnès Fromont, Sebastien Cabasson, Marine Boudot de la Motte, Jerome Honnorat, and Romain Marignier
Subjects: immunology, Psychiatry and Mental health, myelin, myelopathy, Surgery, Neurology (clinical), neuroimmunology
Abstract: Background and objectivesNeuromyelitis optica spectrum disorders (NMOSDs) are a group of diseases mainly characterised by recurrent optic neuritis and/or myelitis. Most cases are associated with a pathogenic antibody against aquaporin-4 (AQP4-Ab), while some patients display autoantibodies targeting the myelin oligodendrocyte glycoprotein (myelin oligodendrocyte glycoprotein antibodies (MOG-Abs)). Anti-Argonaute antibodies (Ago-Abs) were first described in patients with rheumatological conditions and were recently reported as a potential biomarker in patients with neurological disorders. The aims of the study were to investigate if Ago-Abs can be detected in NMOSD and to evaluate its clinical usefulness.MethodsSera from patients prospectively referred to our centre with suspected NMOSD were tested for AQP4-Abs, MOG-Abs and Ago-Abs with cell-based assays.ResultsThe cohort included 104 prospective patients: 43 AQP4-Abs-positive cases, 34 MOG-Abs positive cases and 27 double-negative patients. Ago-Abs were detected in 7 of 104 patients (6.7%). Clinical data were available for six of seven patients. The median age at onset of patients with Ago-Abs was 37.5 [IQR 28.8–50.8]; five of six patients tested positive also for AQP4-Abs. Clinical presentation at onset was transverse myelitis in five patients, while one presented with diencephalic syndrome and experienced a transverse myelitis during follow-up. One case presented a concomitant polyradiculopathy. Median EDSS score at onset was 7.5 [IQR 4.8–8.4]; median follow-up was 40.3 months [IQR 8.3–64.7], and median EDSS score at last evaluation was 4.25 [IQR 1.9–5.5].ConclusionAgo-Abs are present in a subset of patients with NMOSD and, in some cases, represent the only biomarker of an autoimmune process. Their presence is associated with a myelitis phenotype and a severe disease course.
Published: 2023

4. Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic

Author: Laure Delaval, Karine Nguyen, J. Cogez, Romain Schneckenburger, Eric Jouvent, Valérie Lauer, Fatoumata Ba, Matthias Lamy, Cédric Urbanczyk, Igor Raynouard, Françoise Bergametti, Jérémie Dassa, Livia Lanotte, Valérie Layet, Elisabeth Tournier-Lasserve, Jean Philippe Neau, Mira Didic, Alexandru Florea, Cédric Gollion, Carmen Badiu, Thibault Coste, Dominique Hervé, Nathalie Derache, and Maude Grelet
Subjects: Male, Proband, Genetics, Heterozygote, Mutation, Brain, High-Temperature Requirement A Serine Peptidase 1, Middle Aged, Biology, medicine.disease_cause, Penetrance, eye diseases, Stop codon, Pedigree, Frameshift mutation, Codon, Nonsense, medicine, Humans, Missense mutation, Female, Neurology (clinical), Allele, Frameshift Mutation, Haploinsufficiency, Aged
Abstract: Heterozygous missense HTRA1 mutations have been associated with an autosomal dominant cerebral small vessel disease (CSVD) whereas the pathogenicity of heterozygous HTRA1 stop codon variants is unclear. We performed a targeted high throughput sequencing of all known CSVD genes, including HTRA1, in 3853 unrelated consecutive CSVD patients referred for molecular diagnosis. The frequency of heterozygous HTRA1 mutations leading to a premature stop codon in this patient cohort was compared with their frequency in large control databases. An analysis of HTRA1 mRNA was performed in several stop codon carrier patients. Clinical and neuroimaging features were characterized in all probands. Twenty unrelated patients carrying a heterozygous HTRA1 variant leading to a premature stop codon were identified. A highly significant difference was observed when comparing our patient cohort with control databases: gnomAD v3.1.1 [P = 3.12 × 10−17, odds ratio (OR) = 21.9], TOPMed freeze 5 (P = 7.6 × 10−18, OR = 27.1) and 1000 Genomes (P = 1.5 × 10−5). Messenger RNA analysis performed in eight patients showed a degradation of the mutated allele strongly suggesting a haploinsufficiency. Clinical and neuroimaging features are similar to those previously reported in heterozygous missense mutation carriers, except for penetrance, which seems lower. Altogether, our findings strongly suggest that heterozygous HTRA1 stop codons are pathogenic through a haploinsufficiency mechanism. Future work will help to estimate their penetrance, an important information for genetic counselling.
Published: 2021

5. The detection of antithyroid antibodies in cerebrospinal fluid using fluorescent enzyme immuno assay (FEIA) is suitable for biological diagnosis of Hashimoto's encephalopathy

Author: Julien Serrier, Kathy Khoy, Pierre Branger, Elisabeth Comby, Brigitte Le Mauff, Clémentine Gondolf, Nathalie Derache, and Delphine Mariotte
Subjects: Immunoassay, biology, business.industry, Detection threshold, Encephalopathy, Autoantibody, Hashimoto's encephalopathy, Enzyme-Linked Immunosorbent Assay, Hashimoto Disease, General Medicine, medicine.disease, Immuno assay, Cerebrospinal fluid, Immunology, Elisa test, biology.protein, Encephalitis, Humans, Medicine, Antibody, business, Autoantibodies
Abstract: Hashimoto encephalopathy (HE) is a rare condition often underdiagnosed. The clinical picture is heterogeneous with numerous neurological signs and is associated with the presence of high levels of anti-thyroperoxidase (TPO) and / or anti-thyroglobulin (TG) antibodies in the blood and cerebrospinal fluid (CSF). The determination of anti-TPO and anti-TG antibodies in CSF is performed in only few laboratories. The aim of our study was to adapt the EliATM fluoroenzymatic immuno assay (FEIA) to the detection of these autoantibodies in the CSF, and to compare the results with our previously published ELISA test (Blanchin S. 2007). For the FEIA technique, the detection threshold, and the quantification threshold have been determined for anti-TPO and anti-TG antibodies. FEIA results were concordant with ELISA at 75% and 100% for anti-TPO and anti-TG antibodies, respectively. Coefficients of variation (CV) of the intra-assay and inter-assay results were calculated as well as the uncertainties of measurement. The anti-TPO and anti-TG antibodies detection in CSF using FEIA technique correlate with the previously published ELISA and show good analytical performances. The availability of PhadiaTM 250 analyzer in a large number of laboratories will allow an easier biological detection. We hope that this test will respond to physician needs and help for HE diagnosis.
Published: 2021

6. Neurologic manifestations associated with COVID-19: a multicentre registry

Author: Elodie Meppiel, Nathan Peiffer-Smadja, Alexandra Maury, Imen Bekri, Cécile Delorme, Virginie Desestret, Lucas Gorza, Geoffroy Hautecloque-Raysz, Sophie Landre, Annie Lannuzel, Solène Moulin, Peggy Perrin, Paul Petitgas, François SellaI, Adrien Wang, Pierre Tattevin, Thomas de Broucker, Sophie Abgrall, Fanny Alby-Laurent, Thibault Allou, Joséphine Amevigbe, Hanifa Amarguellay, Nabil Alloussi, Guillaume Baille, Mathilde Barbaz, Lamia Bencherif, Samia Bensaadi, Guillaume Beraud, Alexandra Bizot, Laure Bottin, Fabrice Bruneel, Jean-Philippe Camdessanche, Jeanne Chauffier, Jean-Philippe Csajaghy, Chloé De Broucker, Thomas De Broucker, Luc Defebvre, Elodie Dembloque, Nathalie Derache, Olivier Dereeper, Céline Derollez, Cécile Descotes-Genon, Mathilde Devaux, Lydie Dubuc, Gilles Edan, Andréa Fickl, Thibault Fraisse, Michel Gugenheim, Karolina Hankiewicz, Yves Hansmann, Carole Henry, Stéphanie Jobard, Fanny Jouan, Arnaud Kwiatkowski, Thibault Lalu, Johan Leguilloux, Camille Lejeune, Clémence Liegeois, Sophie Mahy, Jonathan Marey, Laure Michel, Rita Mitri, Chloé Moulin, Asma Omarjee, Canan Ozsancak, Fernando Pico, Marie Poupard, Valérie Rabier, Camille Rizzato, Caroline Roos, Julien Saison, Naomi Sayre, Nicolas Sedillot, François Sellal, Jérôme Servan, Caroline Storey, Laurent Suchet, Paul Tarteret, Mathilde Thiebaut, Claudia Vaduva, David Varlan, Virginie Zarrouk, Centre Hospitalier de Saint-Denis [Ile-de-France], Infection, Anti-microbiens, Modélisation, Evolution (IAME (UMR_S_1137 / U1137)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Université Sorbonne Paris Nord, Centre Hospitalier de Versailles André Mignot (CHV), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hospices Civils de Lyon (HCL), Hôpital Foch [Suresnes], Hôpitaux Civils de Colmar, Centre d'Investigation Clinique Antilles-Guyane (CIC - Antilles Guyane), CHU de Fort de France-Centre Hospitalier Andrée Rosemon [Cayenne, Guyane Française]-CHU Pointe-à-Pitre/Abymes [Guadeloupe] -Institut National de la Santé et de la Recherche Médicale (INSERM)-Université des Antilles et de la Guyane (UAG), Centre Hospitalier Universitaire de Reims (CHU Reims), Les Hôpitaux Universitaires de Strasbourg (HUS), CHU Pontchaillou [Rennes], Service de Neurologie [Hôpitaux Civils de Colmar], Hôpitaux Civils Colmar, Jonchère, Laurent, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Université des Antilles et de la Guyane (UAG)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pointe-à-Pitre/Abymes [Guadeloupe] -CHU de Fort de France-Centre Hospitalier Andrée Rosemon [Cayenne, Guyane Française]
Subjects: Male, 0301 basic medicine, Microbiology (medical), Registry, medicine.medical_specialty, [SDV]Life Sciences [q-bio], 030106 microbiology, Encephalopathy, Nervous System, 03 medical and health sciences, 0302 clinical medicine, Interquartile range, Internal medicine, medicine, Humans, Registries, 030212 general & internal medicine, Pleocytosis, Aged, Retrospective Studies, medicine.diagnostic_test, SARS-CoV-2, business.industry, Mortality rate, Brain, COVID-19, Retrospective cohort study, Magnetic resonance imaging, General Medicine, Neurologic manifestations, Middle Aged, medicine.disease, Thrombosis, 3. Good health, [SDV] Life Sciences [q-bio], Infectious Diseases, Neurological manifestations, Female, Original Article, France, Nervous System Diseases, business, Encephalitis
Abstract: International audience; OBJECTIVES: To provide an overview of the spectrum, characteristics and outcomes of neurologic manifestations associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. METHODS: We conducted a single-centre retrospective study during the French coronavirus disease 2019 (COVID-19) epidemic in March-April 2020. All COVID-19 patients with de novo neurologic manifestations were eligible. RESULTS: We included 222 COVID-19 patients with neurologic manifestations from 46 centres in France. Median (interquartile range, IQR) age was 65 (53-72) years and 136 patients (61.3%) were male. COVID-19 was severe or critical in 102 patients (45.2%). The most common neurologic diseases were COVID-19-associated encephalopathy (67/222, 30.2%), acute ischaemic cerebrovascular syndrome (57/222, 25.7%), encephalitis (21/222, 9.5%) and Guillain-Barré syndrome (15/222, 6.8%). Neurologic manifestations appeared after the first COVID-19 symptoms with a median (IQR) delay of 6 (3-8) days in COVID-19-associated encephalopathy, 7 (5-10) days in encephalitis, 12 (7-18) days in acute ischaemic cerebrovascular syndrome and 18 (15-28) days in Guillain-Barré syndrome. Brain imaging was performed in 192 patients (86.5%), including 157 magnetic resonance imaging (70.7%). Among patients with acute ischaemic cerebrovascular syndrome, 13 (22.8%) of 57 had multiterritory ischaemic strokes, with large vessel thrombosis in 16 (28.1%) of 57. Brain magnetic resonance imaging of encephalitis patients showed heterogeneous acute nonvascular lesions in 14 (66.7%) of 21. Cerebrospinal fluid of 97 patients (43.7%) was analysed, with pleocytosis found in 18 patients (18.6%) and a positive SARS-CoV-2 PCR result in two patients with encephalitis. The median (IQR) follow-up was 24 (17-34) days with a high short-term mortality rate (28/222, 12.6%). CONCLUSIONS: Clinical spectrum and outcomes of neurologic manifestations associated with SARS-CoV-2 infection were broad and heterogeneous, suggesting different underlying pathogenic processes.
Published: 2021

7. The long‐term outcome of MOGAD: An observational national cohort study of 61 patients

Author: Valerie Touitou, Bertrand Audoin, Nicolas Collongues, Mikael Cohen, Romain Deschamps, David Laplaud, Nathalie Derache, Jonathan Ciron, Eric Thouvenot, Françoise Durand-Dubief, Caroline Papeix, Jennifer Aboab, Guillaume Mathey, Julie Pique, C. Vignal-Clermont, Aurélie Ruet, Elisabeth Maillart, Romain Marignier, Hélène Zéphir, Bertrand Bourre, Olivier Gout, and Xavier Ayrignac
Subjects: Pediatrics, medicine.medical_specialty, Optic Neuritis, Visual acuity, Bilateral blindness, medicine.medical_treatment, Urinary catheterization, National cohort, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Optic neuritis, 030212 general & internal medicine, Autoantibodies, Retrospective Studies, Aquaporin 4, First episode, Expanded Disability Status Scale, business.industry, medicine.disease, Neurology, Myelin-Oligodendrocyte Glycoprotein, Observational study, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: BACKGROUND AND OBJECTIVE The prognosis in myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is a matter of debate. Our aim was to assess the long-term outcomes of patients with MOGAD. METHODS We retrospectively analysed the clinical and paraclinical data of patients from the French nationwide observatory study NOMADMUS who tested positive for MOG antibodies (MOG-IgG) and who had clinical follow-up of at least 8 years from their first episode. RESULTS Sixty-one patients (median [range] age at onset 27 [3-69] years), with a median (mean; range) follow-up of 177 (212.8; 98-657) months, were included. Among 58 patients with a relapsing course, 26.3% relapsed in the first year after onset. Of the 61 patients, 90.2% experienced at least one episode of optic neuritis. At last visit, the median (mean; range) Expanded Disability Status Scale (EDSS) score was 1 (2.12; 0-7.5), 12.5% had an EDSS score ≥6 and 37.5% had an EDSS score ≥3. Of 51 patients with final visual acuity (VA) data available, 15.7% had VA ≤0.1 in at least one eye and 25.5% had VA ≤0.5 in at least one eye. Bilateral blindness (VA ≤0.1) was present in 5.9% of patients. Finally, 12.5% of patients presented bladder dysfunction requiring long-term urinary catheterization. No factor associated significantly with a final EDSS score ≥3 or with final VA ≤0.1 was found. CONCLUSION Overall long-term favourable outcomes were achieved in a majority of our patients, but severe impairment, in particular visual damage, was not uncommon.
Published: 2021

8. Severe bone pain with teriflunomide: Five case reports and review of the French pharmacovigilance database

Author: Stéphane Allouche, Maxence Ficheux, Gilles Defer, Jean-Jacques Parienti, Florian Le Caignec, Laure Peyro-Saint-Paul, Nathalie Derache, Sophie Fedrizzi, and Floriane Calocer
Subjects: medicine.medical_specialty, business.industry, Multiple sclerosis, medicine.disease, chemistry.chemical_compound, chemistry, Internal medicine, Teriflunomide, Pharmacovigilance, medicine, Pharmacology (medical), medicine.symptom, Adverse effect, business, Bone pain, Severe bone pain
Published: 2020

9. Post-vaccine COVID-19 in patients with multiple sclerosis or neuromyelitis optica

Author: Edouard Januel, Jérôme De Seze, Patrick Vermersch, Elisabeth Maillart, Bertrand Bourre, Julie Pique, Xavier Moisset, Caroline Bensa, Adil Maarouf, Jean Pelletier, Sandra Vukusic, Bertrand Audoin, Céline Louapre, Stéphane Beltran, Eric Berger, Kevin Bigaut, Nathalie Derache, Salimata Gassama, Olivier Heinzlef, Laurent Kremer, Philippe Kerschen, Aude Maurousset, Vito A G Ricigliano, Pierre-Yves Garcia, Pierre Labauge, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, CHU Lille, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Centre de Référence des Maladies Inflammatoires Rares du Cerveau et de la Moelle (MIRCEM), Neuro-Dol (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Service de Neurologie [CHU Nice], Hôpital Pasteur [Nice] (CHU)-Centre Hospitalier Universitaire de Nice (CHU Nice), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), CHU Marseille, Département de Neuroradiologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), CIC Strasbourg (Centre d’Investigation Clinique Plurithématique (CIC - P) ), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Nouvel Hôpital Civil de Strasbourg-Hôpital de Hautepierre [Strasbourg], Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), CHI Poissy-Saint-Germain, Excitabilité nerveuse et thérapeutique (ENT), Hôpital Henri Mondor-EA 4391, Service de Physiologie Explorations Fonctionnelles-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Gestionnaire, HAL Sorbonne Université 5
Subjects: Multiple Sclerosis, Neurology, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Fingolimod Hydrochloride, SARS-CoV-2, Neuromyelitis Optica, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, COVID-19, Humans, Neurology (clinical), BNT162 Vaccine
Abstract: Introduction: Recent studies suggested that anti-CD20 and fingolimod may be associated with lower anti-spike protein-based immunoglobulin-G response following COVID-19 vaccination. We evaluated if COVID-19 occurred despite vaccination among patients with multiple sclerosis (MS) and neuromyelitis optica (NMO), using the COVISEP registry. Case series: We report 18 cases of COVID-19 after two doses of BNT162b2-vaccination, 13 of which treated with anti-CD20 and four with fingolimod. COVID-19 severity was mild. Discussion: These results reinforce the recommendation for a third COVID-19 vaccine dose among anti-CD20 treated patients and stress the need for a prospective clinical and biological study on COVID-19 vaccine efficacy among MS and NMO patients.
Published: 2021

10. Frequency and characteristics of short versus longitudinally extensive myelitis in adults with MOG antibodies: A retrospective multicentric study

Author: Carole Henry, Sandra Vukusic, Alexis Montcuquet, Clarisse Gagou-Scherer, Mikael Cohen, Bruno Brochet, Nathalie Derache, Alvaro Cobo-Calvo, David Brassat, Caroline Papeix, Philippe Kerschen, Françoise Durand-Dubief, Jonathan Ciron, Nicolas Collongues, Hélène Zéphir, Nicolas Maubeuge, Thibault Moreau, Romain Deschamps, Aude Maurousset, Romain Marignier, Matthieu Bereau, Fabien Rollot, Eric Thouvenot, Clarisse Carra-Dalliere, Christophe Prat, David Laplaud, Frederic Taithe, Ayman Tourbah, Elisabeth Maillart, Bertrand Bourre, Guillaume Mathey, Bertrand Audoin, Département de Neurologie [Toulouse], Institut des Neurosciences [Toulouse], Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Neurologie générale et maladies inflammatoires du système nerveux [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Neurologie [CHU Nice], Hôpital Pasteur [Nice] (CHU)-Centre Hospitalier Universitaire de Nice (CHU Nice), Biopathologie de la Myéline, Neuroprotection et Stratégies Thérapeutiques (BMNST), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Fondation Ophtalmologique Adolphe de Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département de neurologie [Lille], Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de neurologie [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de neurologie [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier de Saint-Denis [Ile-de-France], Centre Hospitalier de Luxembourg [Luxembourg] (CHL), Service de neurologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de neurologie [Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Neurologie [CHU Limoges], CHU Limoges, Service de Neurologie générale, vasculaire et dégénérative (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier d'Angoulême (CH Angoulême), CHU Clermont-Ferrand, Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Service de neurologie [Reims], Centre Hospitalier Universitaire de Reims (CHU Reims), Laboratoire de Psychopathologie et Neuropsychologie (LPN), Université Paris 8 Vincennes-Saint-Denis (UP8), Université de Lyon, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Adult, Male, Pathology, medicine.medical_specialty, Myelitis, MESH: Myelitis / physiopathology, Prognosis, Registries, Retrospective Studies, Severity of Illness Index, Young Adult, Transverse myelitis, Myelin oligodendrocyte glycoprotein, 03 medical and health sciences, Myelin, 0302 clinical medicine, MESH: Adult, Aged, Autoantibodies, Disease Progression, Female, Follow-Up Studies, Humans, Magnetic Resonance Imaging, Medicine, 10. No inequality, 030304 developmental biology, 0303 health sciences, biology, business.industry, Multiple sclerosis, Middle Aged, medicine.disease, 3. Good health, medicine.anatomical_structure, Neurology, Cohort, biology.protein, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Myelin-Oligodendrocyte Glycoprotein, Neurology (clinical), MESH: Male, Myelin-Oligodendrocyte Glycoprotein / immunology, Myelitis / diagnosis, Myelitis / immunology, Myelitis / pathology, Antibody, business, 030217 neurology & neurosurgery
Abstract: Objectives: We aim to (1) determine the frequency and distinctive features of short myelitis (SM) and longitudinally extensive transverse myelitis (LETM) in a cohort of adults with myelin oligodendrocyte glycoprotein (MOG)-antibody (Ab)-associated myelitis and (2) determine baseline prognostic factors among MOG-Ab-positive patients whose disease started with myelitis. Material and Methods: We retrospectively analyzed clinical and paraclinical variables from a multicentric French cohort of adults with MOG-Ab-associated myelitis. At last follow-up, patients were classified into two groups according to the severity of the Expanded Disability Status Scale (EDSS) as ⩽2.5 or ⩾3.0. Results: Seventy-three patients with at least one episode of myelitis over disease course were included; among them, 28 (38.4%) presented with SM at the time of the first myelitis. Motor and sphincter involvement was less frequently observed in SM (51.9% and 48.2%, respectively) than in LETM patients (83.3% and 78.6%, respectively), p = 0.007 and p = 0.017; 61% of LETM patients displayed brain lesions compared to 28.6% in the SM group, p = 0.008, and the thoracic segment was more frequently involved in the LETM (82.2%) than in the SM group (39.3%), p Conclusion: SM in MOG-Ab-associated disease is not rare. The severity at onset was the only independent factor related to the final prognosis in MOG-Ab-associated myelitis.
Published: 2019

11. Risk Factors and Time to Clinical Symptoms of Multiple Sclerosis Among Patients With Radiologically Isolated Syndrome

Author: Olivier Casez, Mikael Cohen, Eric Thouvenot, Adil Maarouf, C. Bensa, Céline Callier, Jonathan Ciron, Pierre Labauge, David Laplaud, Naila Makhani, Bertrand Bourre, Abdulatif Al Khedr, Guillaume Mathey, Thibault Moreau, Sfsep Risc, Sandra Vukusic, Pierre Clavelou, Fabien Rollot, Céline Louapre, Jérôme De Seze, Eric Berger, Daniel Pelletier, A.-M. Guennoc, Aksel Siva, Christina J. Azevedo, Ayman Tourbah, Darin T. Okuda, Alain Créange, F. Durand-Dubief, Philippe Cabre, Jean-Philippe Camdessanché, Hélène Zéphir, Emmanuelle Le Page, Nathalie Derache, Orhun H. Kantarci, Jean-Philippe Neau, Patrick Vermersch, Aurélie Ruet, Lydiane Mondot, Ofsep Investigators, Christine Lebrun-Frénay, Université Côte d'Azur (UCA), Observatoire Français de la Sclérose En Plaques [Lyon] (OFSEP), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Lyon, Lille Neurosciences & Cognition - U 1172 (LilNCog (ex-JPARC)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), Hôpital de la Fondation Ophtalmologique Adolphe de Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut de Génomique Fonctionnelle (IGF), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), Université de Nantes (UN), CHU Strasbourg, CHU Toulouse [Toulouse], Neurologie générale et maladies inflammatoires du système nerveux [Toulouse], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Rouen, Normandie Université (NU), CHU de la Martinique [Fort de France], Centre Hospitalier Universitaire [Grenoble] (CHU), Physiopathologie de la Plasticité Neuronale (Neurocentre Magendie - U1215 Inserm), Université de Bordeaux (UB)-Institut François Magendie-Institut National de la Santé et de la Recherche Médicale (INSERM), Adaptation, mesure et évaluation en santé. Approches interdisciplinaires (APEMAC), Université de Lorraine (UL), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Centre d'épidémiologie des populations (CEP), Université de Bourgogne (UB)-Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), CHU Amiens-Picardie, CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Neuro-Dol (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hôpital Henri Mondor, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Hôpital Raymond Poincaré [AP-HP], Maladies et hormones du système nerveux (DHNS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Hôpital de la Timone [CHU - APHM] (TIMONE), Mayo Clinic [Jacksonville], Cerrahpasa Faculty of Medicine, Istanbul University, University of Southern California (USC), Yale University School of Medicine, University of Texas Southwestern Medical Center [Dallas], This study was funded through the Observatoire Français de la Sclérose En Plaques, which is supported by grant ANR-10-COHO-002 provided by the French State and handled by the Agence Nationale de la Recherche within the framework of the Investments for the Future program by the Eugène Devic European Database for Multiple Sclerosis Foundation against multiple sclerosis and by the Aide pour la Recherche sur la Sclérose En Plaques Foundation., ANR-10-COHO-0002,OFSEP,Observatoire Français de la Sclérose en Plaques(2010), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lille Neurosciences & Cognition - U 1172 (LilNCog), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Neurocentre Magendie : Physiopathologie de la Plasticité Neuronale (U1215 Inserm - UB), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Yale School of Medicine [New Haven, Connecticut] (YSM), Jonchère, Laurent, and Cohortes - Observatoire Français de la Sclérose en Plaques - - OFSEP2010 - ANR-10-COHO-0002 - COHO - VALID
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, Multivariate analysis, Multiple Sclerosis, Adolescent, [SDV]Life Sciences [q-bio], 01 natural sciences, 010104 statistics & probability, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, medicine, Humans, 0101 mathematics, Original Investigation, Clinically isolated syndrome, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, Radiotherapy, business.industry, Multiple sclerosis, Research, Hazard ratio, Magnetic resonance imaging, Conversion, General Medicine, Middle Aged, medicine.disease, 3. Good health, Clinical trial, [SDV] Life Sciences [q-bio], Online Only, Cross-Sectional Studies, Neurology, Sample size determination, Female, France, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Cohort study
Abstract: This cohort study investigates risk factors associated with time to a multiple sclerosis clinical event among patients with radiologically isolated syndrome., Key Points Question Are there clinical or demographic factors associated with time to clinical symptoms of multiple sclerosis among patients with radiologically isolated syndrome? Findings In this cohort study of 372 individuals with radiologically isolated syndrome, young age, the presence of spinal cord lesions, and gadolinium-enhancing lesions on the index magnetic resonance imaging scan were associated with increased risk of onset of clinical symptoms of multiple sclerosis. Meaning These findings identify 3 risk factors associated with multiple sclerosis at the preclinical stage of central nervous system demyelinating disease defined by radiologically isolated syndrome., Importance Younger age, oligoclonal bands, and infratentorial and spinal cord lesions are factors associated with an increased 10-year risk of clinical conversion from radiologically isolated syndrome (RIS) to multiple sclerosis (MS). Whether disease-modifying therapy is beneficial for individuals with RIS is currently unknown. Objectives To evaluate the 2-year risk of a clinical event (onset of clinical symptoms of MS) prospectively, identify factors associated with developing an early clinical event, and simulate the sample size needed for a phase III clinical trial of individuals with RIS meeting 2009 RIS criteria. Design, Setting, and Participants This cohort study used data on prospectively followed-up individuals with RIS identified at 1 of 26 tertiary centers for MS care in France that collect data for the Observatoire Français de la Sclérose en Plaques database. Participants were aged 10 to 80 years with 2 or more magnetic resonance imaging (MRI) scans after study entry and an index scan after 2000. All diagnoses were validated by an expert group, whose review included a double centralized MRI reading. Data were analyzed from July 2020 to January 2021. Exposure Diagnosis of RIS. Main Outcomes and Measures Risk of clinical event and associated covariates at index scan were analyzed among all individuals with RIS. Time to the first clinical event was compared by covariates, and sample size estimates were modeled based on identified risk factors. Results Among 372 individuals with RIS (mean [SD] age at index MRI scan, 38.6 [12.1] years), 354 individuals were included in the analysis (264 [74.6%] women). A clinical event was identified among 49 patients (13.8%) within 2 years, which was associated with an estimated risk of conversion of 19.2% (95% CI, 14.1%-24.0%). In multivariate analysis, age younger than 37 years (hazard ratio [HR], 4.04 [95% CI, 2.00-8.15]; P
Published: 2021

12. Télémédecine et e-santé dans le parcours de soins des patients SEP

Author: Gilles Defer, Nathalie Derache, Pierre Branger, and Charlotte Arnaud
Subjects: Neurology, Neurology (clinical)
Published: 2022

13. BEST-MS: A prospective head-to-head comparative study of natalizumab and fingolimod in active relapsing MS

Author: Eric Berger, Clarisse Carra, Christine Lebrun-Frenay, Patrick Vermersch, Chrystelle Cappé, Gilles Defer, Béatrice Pignolet, David Brassat, Marc Debouverie, Bruno Brochet, Lydiane Mondot, Aurélie Ruet, Hélène Zéphir, Nathalie Derache, Guillaume Mathey, Kévin Bigaut, Sandrine Wiertlewski, Jérôme De Seze, David-Axel Laplaud, Mikael Cohen, Pierre Labauge, Florence Bucciarelli, Service de Neurologie [CHU Nice], Hôpital Pasteur [Nice] (CHU)-Centre Hospitalier Universitaire de Nice (CHU Nice), Unité de Recherche Clinique de la Côte d’Azur [Nice] (URRIS UR2CA), Université Côte d'Azur (UCA), Hôpital Pasteur [Nice] (CHU), Pôle neurosciences [Hôpital de Purpan - Toulouse], CHU Toulouse [Toulouse], Centre de Physiopathologie Toulouse Purpan (CPTP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Transplantation et Immunologie (U1064 Inserm - CRTI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centre d’Investigation Clinique de Nantes (CIC Nantes), Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre hospitalier universitaire de Nantes (CHU Nantes), Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], Service de neurologie [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre de Ressources et de Compétences Sclérose en Plaques (CRCSEP), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Lille Neurosciences & Cognition - U 1172 (LilNCog (ex-JPARC)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Projet Fédératif Hospitalo-Universitaire IMmune-Mediated INflammatory diseases aNd Targeted Therapies [Lille] (FHU IMMINeNT), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre d'investigation clinique - Epidémiologie clinique [Nancy] (CIC-EC), Centre d'investigation clinique [Nancy] (CIC), Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Centre d'Investigation Clinique de Besançon (Inserm CIC 1431), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté]), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), CIC Strasbourg (Centre d’Investigation Clinique Plurithématique (CIC - P) ), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Strasbourg (UNISTRA)-Hôpital de Hautepierre [Strasbourg]-Nouvel Hôpital Civil de Strasbourg
Subjects: Oncology, medicine.medical_specialty, Head to head, Multiple sclerosis, 03 medical and health sciences, 0302 clinical medicine, Natalizumab, natalizumab, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Internal medicine, medicine, therapeutics, Humans, magnetic resonance imaging, Prospective Studies, 030212 general & internal medicine, fingolimod, medicine.diagnostic_test, Fingolimod Hydrochloride, business.industry, Magnetic resonance imaging, medicine.disease, Fingolimod, 3. Good health, Neurology, Neurology (clinical), Neoplasm Recurrence, Local, business, 030217 neurology & neurosurgery, medicine.drug
Abstract: Background: There are few head-to-head studies to compare highly active treatments in multiple sclerosis (MS) Objective: The aim of this study was to compare the effectiveness between natalizumab (NTZ) and fingolimod (FTY) in active relapsing–remitting MS Method: Best Escalation STrategy in Multiple Sclerosis (BEST-MS) is a multicentric, prospective study with a 12-month follow-up including patients with active MS. Treatment choice was at the discretion of physician. Clinical and magnetic resonance imaging (MRI) data were collected at baseline and at 12 months. The primary outcome was the proportion of patients reaching no evidence of disease activity (NEDA) at 12 months. Secondary outcomes included annualized relapse rate and MRI activity. Results: A total of 223 patients were included (NTZ: 109 and FTY: 114). Treatment groups were well balanced at baseline. Proportion of NEDA patients was 47.8% in NTZ group versus 30.4% in FTY group ( p = 0.015). This superiority was driven by annualized relapse rate and MRI activity. In the multivariate analysis, treatment group was the only factor associated with NEDA at 12 months with a lower probability in FTY group (odds ratio (OR) = 0.49, p = 0.029). Conclusion: BEST-MS is a prospective study that compared head-to-head the effectiveness of NTZ and FTY in active relapsing–remitting MS. Our results suggest a superiority of NTZ over FTY.
Published: 2020

14. Relapses During High-Dose Biotin Treatment in Progressive Multiple Sclerosis: a Case-Crossover and Propensity Score-Adjusted Prospective Cohort

Author: Elisabeth Maillart, Jean-Jacques Parienti, Nathalie Derache, Rana Assouad, Gilles Defer, Nizam Kassis, and Pierre Branger
Subjects: 0301 basic medicine, Male, medicine.medical_specialty, Multiple Sclerosis, Biotin, Rate ratio, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Multiple Sclerosis, Relapsing-Remitting, Recurrence, Internal medicine, medicine, Humans, Pharmacology (medical), Prospective Studies, Prospective cohort study, Propensity Score, Survival analysis, Aged, Pharmacology, Cross-Over Studies, business.industry, Multiple sclerosis, Hazard ratio, Middle Aged, Multiple Sclerosis, Chronic Progressive, medicine.disease, Confidence interval, 030104 developmental biology, Cohort, Propensity score matching, Vitamin B Complex, Commentary, Original Article, Female, Neurology (clinical), France, business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: High-dose biotin (HDB) is a therapy used in non-active progressive multiple sclerosis (PMS). Some reports have suggested that HDB treatment may be associated with an increased risk of relapse. We evaluate the relationship between exposure to HDB for treating PMS and the risk of relapse. We screened for PMS patients prospectively registered in a French regional cohort being part of the OFSEP national registry. In a case-crossover design among patients who received HDB, we first compared number of relapses before and after initiation of HDB. Second, time to the first clinical relapse was compared between patients who received HDB (biotin group) and a control group using a Cox survival analysis after a propensity score (PS) matching (1:1) and inverse probability of treatment weighting (IPTW) method. In the 42 PMS patients who received HDB, the number of relapses was statistically and clinically significant higher after biotin initiation than before biotin initiation (incident rate ratio [IRR] 7.4, 95% confidence interval [CI] 3.5–15.9, p
Published: 2020

15. Retrospective evaluation of regional telemedicine team meetings for multiple sclerosis (MS) patients: Experience from the Caen MS expert center in Normandy, France

Author: F. Seguin, Gilles Defer, K. Hauchard, R. Ohannessian, and Nathalie Derache
Subjects: Adult, Telemedicine, medicine.medical_specialty, Neurology, Multiple Sclerosis, 03 medical and health sciences, 0302 clinical medicine, Patient age, Medicine, Humans, 030212 general & internal medicine, Neurologists, Quality of care, Retrospective Studies, business.industry, Multiple sclerosis, Expert consultation, medicine.disease, Satisfaction rate, Family medicine, Observational study, Neurology (clinical), France, business, 030217 neurology & neurosurgery
Abstract: Introduction Multiple sclerosis (MS) is a demyelinating disease requiring multidisciplinary care coordination. Recent development of diagnosis criteria and disease modifying treatments have encouraged the setup of regional team meetings by MS expert centers, known as CRC Sep, to improve the quality of care provided to patients with complex cases. The CRC Sep in Caen initiated regional telemedicine meetings named Tele-SEP, operating since 2016. The objective of this study was to evaluate the Tele-SEP used by neurologists, on MS patient care management in Normandy. Methods An internal ex-itinere evaluation was conducted with a retrospective descriptive observational study from July 2016 to June 2018. The Tele-SEP meetings were organized with 41 neurologists using a regional telemedicine platform (Therap-e). Data were collected from online records and a declarative voluntary survey. Twenty indicators were classified in the categories: volume of activity, clinical profile, quality and impact. Results Fifteen meetings were organized with a median of 13 senior neurologists. One hundred forty MS cases were discussed and there was a 33% increase in the second year of Tele-SEP. Median patient age was 44 years with a 72-month median length of disease. Most patient cases required second-line treatment. Relapsing remitting MS was diagnosed in 51.4% of cases. Tele-SEP satisfaction rate was 4.5/5 and 96% of neurologists applied the medical decisions and recommendations given in the meetings. Conclusion Without Tele-SEP, 54.5% of patients would have been referred to a physical expert consultation in the CRC Sep. This study showed the feasibility and relevance of regional telemedicine team meetings for MS cases in the Normandy region.
Published: 2020

16. Progressive Multifocal Leukoencephalopathy Incidence and Risk Stratification Among Natalizumab Users in France

Author: Xavier Moisset, Elisabeth Maillart, Julie Pique, Ofsep Investigators, Pierre Labauge, Bruno Stankoff, Eric Thouvenot, Bertrand Bourre, Fabien Rollot, Hélène Zéphir, Nathalie Derache, Gilles Edan, Sandra Vukusic, Audrey Rico-Lamy, Christine Lebrun-Frenay, David-Axel Laplaud, Eric Berger, Nicolas Maubeuge, Ayman Tourbah, Sandrine Wiertlewski, A.-M. Guennoc, Céline Labeyrie, Patrick Vermersch, Olivier Heinzlef, Mathieu Vaillant, Karolina Hankiewicz, C. Bensa, Philippe Cabre, Jérôme De Seze, Aurélie Ruet, Thibault Moreau, Romain Casey, Ivania Patry, Romain Marignier, Abdullatif Al-Khedr, Abir Wahab, Alexis Montcuquet, Chantal Nifle, Jean-Philippe Camdessanché, Guillaume Mathey, David Brassat, Service de Neurologie [Lyon], CHU Lyon, Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Fondation Eugène Devic EDMUS, Maladies chroniques, santé perçue, et processus d'adaptation (APEMAC), Université de Lorraine (UL), Service de neurologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de neurologie [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurologie vasculaire, pathologie neuro-dégénérative et explorations fonctionnelles du système nerveux [Toulouse], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Neuroinflammation: imagerie et thérapie de la sclérose en plaques, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Institute for Translational Research in Inflammation - U 1286 (INFINITE (Ex-Liric)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Department of Neurology, Centre Hospitalier Universitaire de Nice (CHU Nice), Service de Neurologie générale, vasculaire et dégénérative (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre de Recherche en Transplantation et Immunologie (U1064 Inserm - CRTI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Service de Neurologie [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Neuro-Dol (Neuro-Dol), Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Aix Marseille Université (AMU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Nice], Hôpital Pasteur [Nice] (CHU)-Centre Hospitalier Universitaire de Nice (CHU Nice), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut de Génomique Fonctionnelle (IGF), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), CHI Poissy-Saint-Germain, CHU Amiens-Picardie, Service de Neurologie, Fondation Ophtalmologique Rothschild, Université Grenoble Alpes - UFR Médecine (UGA UFRM), Université Grenoble Alpes (UGA), CHU de la Martinique [Fort de France], Service de Neurologie [CHU Limoges], CHU Limoges, Service de neurologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), CHU Saint-Etienne, Service de neurologie [Reims], Centre Hospitalier Universitaire de Reims (CHU Reims), Service de Neurologie [Tours], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de neurologie [CH Saint Denis], Centre Hospitalier de Saint-Denis [Ile-de-France], Hôpital Sud Francilien Corbeil Essonne, Centre Hospitalier de Versailles André Mignot (CHV), Service de neurologie [Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service de neurologie [Le Kremlin Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, OFSEP (Observatoire Français de la Sclérose en Plaques) is supported by grant ANR-10-COHO-002 from the French state and handled by the Agence Nationale de la Recherche, within the framework of the Investments for the Future program, by the Eugène Devic EDMUS Foundation Against Multiple Sclerosis, and by the ARSEP Foundation., ANR-10-COHO-0002,OFSEP,Observatoire Français de la Sclérose en Plaques(2010), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Lipides - Nutrition - Cancer (U866) (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Pierre Wertheimer, Département de Neurologie, Lille Inflammation Research International Center (LIRIC), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de neurologie [Besançon], Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon)-Hôpital Jean Minjoz, Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes), Hôpital Bicêtre, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre, ANR-10-COHO-002-01/10-COHO-0002,OFSEP,Observatoire Français de la Sclérose en Plaques(2010), Vialaron, Sylvie, and Cohortes - Observatoire Français de la Sclérose en Plaques - - OFSEP2010 - ANR-10-COHO-0002 - COHO - VALID
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, JC virus, Rate ratio, medicine.disease_cause, 03 medical and health sciences, symbols.namesake, Immunocompromised Host, Young Adult, 0302 clinical medicine, Natalizumab, Multiple Sclerosis, Relapsing-Remitting, Risk Factors, medicine, Humans, Immunologic Factors, 030212 general & internal medicine, Poisson regression, Registries, education, Original Investigation, education.field_of_study, business.industry, Progressive multifocal leukoencephalopathy, Incidence (epidemiology), Incidence, Leukoencephalopathy, Progressive Multifocal, medicine.disease, JC Virus, 3. Good health, Discontinuation, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, symbols, Female, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), France, business, 030217 neurology & neurosurgery, medicine.drug
Abstract: International audience; Importance:Risk of developing progressive multifocal leukoencephalopathy (PML) is the major barrier to using natalizumab for patients with multiple sclerosis (MS). To date, the association of risk stratification with PML incidence has not been evaluated.Objective:To describe the temporal evolution of PML incidence in France before and after introduction of risk minimization recommendations in 2013.Design, Setting, and Participants:This observational study used data in the MS registry OFSEP (Observatoire Français de la Sclérose en Plaques) collected between April 15, 2007, and December 31, 2016, by participating MS expert centers and MS-dedicated networks of neurologists in France. Patients with an MS diagnosis according to current criteria, regardless of age, were eligible, and those exposed to at least 1 natalizumab infusion (n = 6318) were included in the at-risk population. A questionnaire was sent to all centers, asking for a description of their practice regarding PML risk stratification. Data were analyzed in July 2018.Exposures:Time from the first natalizumab infusion to the occurrence of PML, natalizumab discontinuation plus 6 months, or the last clinical evaluation.Main Outcomes and Measures:Incidence was the number of PML cases reported relative to the person-years exposed to natalizumab. A Poisson regression model for the 2007 to 2016 period estimated the annual variation in incidence and incidence rate ratio (IRR), adjusted for sex and age at treatment initiation and stratified by period (2007-2013 and 2013-2016).Results:In total, 6318 patients were exposed to natalizumab during the study period, of whom 4682 (74.1%) were female, with a mean (SD [range]) age at MS onset of 28.5 (9.1 [1.1-72.4]) years; 45 confirmed incident cases of PML were diagnosed in 22 414 person-years of exposure. The crude incidence rate for the whole 2007 to 2016 period was 2.00 (95% CI, 1.46-2.69) per 1000 patient-years. Incidence significantly increased by 45.3% (IRR, 1.45; 95% CI, 1.15-1.83; P = .001) each year before 2013 and decreased by 23.0% (IRR, 0.77; 95% CI, 0.61-0.97; P = .03) each year from 2013 to 2016.Conclusions and Relevance:The results of this study suggest, for the first time, a decrease in natalizumab-associated PML incidence since 2013 in France that may be associated with a generalized use of John Cunningham virus serologic test results; this finding appears to support the continuation and reinforcement of educational activities and risk-minimization strategies in the management of disease-modifying therapies for multiple sclerosis.
Published: 2020

17. Outcome and risk of recurrence in a large cohort of idiopathic longitudinally extensive transverse myelitis without AQP4/MOG antibodies

Author: Caroline Papeix, Gwenaelle Runavot, Françoise Durand-Dubief, Sandra Vukusic, Christine Lebrun-Frenay, Elisabeth Maillart, Pierre Labauge, Jonathan Ciron, Nomadmus study groups, Philippe Kerschen, Bertrand Bourre, Jérôme De Seze, Alexis Montcuquet, Nathalie Derache, Mikael Cohen, Romain Marignier, Bertrand Audoin, Romain Deschamps, Céline Louapre, Clarisse Carra-Dalliere, Hélène Zéphir, Sandrine Wiertlewski, Sfsep Ofsep, David Laplaud, Nicolas Collongues, Nawel Hadhoum, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence des Maladies Inflammatoires Rares du Cerveau et de la Moelle (MIRCEM), Hospices Civils de Lyon, Departement de Neurologie (HCL), Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Rouen, Normandie Université (NU), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), CHU Toulouse [Toulouse], CHU Strasbourg, Centre de Ressources et de Compétences Sclérose en Plaques (CRCSEP), Unité de Recherche Clinique de la Côte d’Azur [Nice] (URRIS UR2CA), Université Côte d'Azur (UCA), CHU Lille, Fondation Ophtalmologique Adolphe de Rothschild [Paris], CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Limoges, Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Sud Saint Pierre [Ile de la Réunion], Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: 0301 basic medicine, Male, Neurology, medicine.medical_treatment, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Disease, Transverse myelitis, lcsh:RC346-429, Cohort Studies, 0302 clinical medicine, Recurrence, Risk Factors, Outcome, First episode, Aged, 80 and over, biology, General Neuroscience, Immunoglobulins, Intravenous, Plasmapheresis, Middle Aged, Prognosis, Neuromyelitis optica, 3. Good health, Natural history, Immunosuppressive drug, Female, Immunosuppressive Agents, Adult, Seronegative, medicine.medical_specialty, Adolescent, Immunology, Myelitis, Transverse, Myelin oligodendrocyte glycoprotein, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, Internal medicine, medicine, Humans, lcsh:Neurology. Diseases of the nervous system, Aged, Autoantibodies, Aquaporin 4, Longitudinally extensive transverse myelitis, business.industry, Research, Recovery of Function, medicine.disease, Treatment, 030104 developmental biology, biology.protein, Myelin-Oligodendrocyte Glycoprotein, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Background Longitudinally extensive transverse myelitis (LETM) is classically related to aquaporin (AQP4)-antibodies (Ab) neuromyelitis optica spectrum disorders (NMOSD) or more recently to myelin oligodendrocyte glycoprotein (MOG)-Ab associated disease. However, some patients remain negative for any diagnosis, despite a large work-up including AQP4-Ab and MOG-Ab. Data about natural history, disability outcome, and treatment are limited in this group of patients. We aimed to (1) describe clinical, biological, and radiological features of double seronegative LETM patients; (2) assess the clinical course and identify prognostic factors; and (3) assess the risk of recurrence, according to maintenance immunosuppressive therapy. Methods Retrospective evaluation of patients with a first episode of LETM, tested negative for AQP-Ab and MOG-Ab, from the French nationwide observatory study NOMADMUS. Results Fifty-three patients (median age 38 years (range 16–80)) with double seronegative LETM were included. Median nadir EDSS at onset was 6.0 (1–8.5), associated to a median EDSS at last follow-up of 4.0 (0–8). Recurrence was observed in 24.5% of patients in the 18 following months, with a median time to first relapse of 5.7 months. The risk of recurrence was lower in the group of patients treated early with an immunosuppressive drug (2/22, 9%), in comparison with untreated patients (10/31, 32%). Conclusions A first episode of a double seronegative LETM is associated to a severe outcome and a high rate of relapse in the following 18 months, suggesting that an early immunosuppressive treatment may be beneficial in that condition.
Published: 2020

18. Épidémiologie, environnement et génétique dans la sclérose en plaques

Author: Héloïse Lebas, Olivier Toutirais, D. Seilhean, Emmanuelle Leray, Nathalie Derache, Cécile Donzé, B. Le Mauff, L. Lanotte, G. Fournié, Agnès Fromont, Guillaume Mathey, Olivier Dejardin, Abdelhadi Saoudi, N. Benallègue, Floriane Calocer, D. Merkler, P. Hautecœur, B. Stankoff, Sandra Vukusic, B. Fontaine, Vincent Damotte, L. Michel, Pierre Branger, M. Michieletto, Denis Vivien, David Brassat, A. Dejean, Fabian Docagne, Alexandra Garcia, Gilles Defer, R. Bernard-Valnet, S. Pittion-Vouyovitch, Isabelle Bardou, A.-L. Dubessy, J. Morille, M. Benamar, I. Rebeix, Charles Pierrot-Deseilligny, David-Axel Laplaud, Marc Debouverie, and Bryan Nicol
Subjects: business.industry, Medicine, business
Published: 2019

19. Historique de la sclérose en plaques

Author: G. Fournié, B. Le Mauff, Bryan Nicol, L. Lanotte, Agnès Fromont, David Brassat, Pierre Branger, I. Rebeix, S. Pittion-Vouyovitch, M. Benamar, Fabian Docagne, Alexandra Garcia, Olivier Toutirais, R. Bernard-Valnet, Cécile Donzé, J. Morille, A.-L. Dubessy, Vincent Damotte, Charles Pierrot-Deseilligny, P. Hautecœur, L. Michel, B. Stankoff, Sandra Vukusic, Isabelle Bardou, David-Axel Laplaud, Marc Debouverie, Gilles Defer, Nathalie Derache, Olivier Dejardin, B. Fontaine, Abdelhadi Saoudi, Denis Vivien, Héloïse Lebas, Floriane Calocer, M. Michieletto, D. Merkler, Emmanuelle Leray, A. Dejean, Guillaume Mathey, N. Benallègue, and D. Seilhean
Published: 2019

20. Immunologie de la sclérose en plaques

Author: Olivier Dejardin, Bryan Nicol, Abdelhadi Saoudi, Charles Pierrot-Deseilligny, David-Axel Laplaud, Marc Debouverie, D. Merkler, Héloïse Lebas, L. Michel, M. Benamar, Floriane Calocer, Pierre Branger, S. Pittion-Vouyovitch, Olivier Toutirais, Guillaume Mathey, B. Le Mauff, L. Lanotte, I. Rebeix, Emmanuelle Leray, N. Benallègue, G. Fournié, Fabian Docagne, Alexandra Garcia, David Brassat, R. Bernard-Valnet, M. Michieletto, P. Hautecœur, Nathalie Derache, J. Morille, A.-L. Dubessy, A. Dejean, B. Stankoff, Sandra Vukusic, Agnès Fromont, Cécile Donzé, D. Seilhean, Isabelle Bardou, Gilles Defer, Vincent Damotte, B. Fontaine, and Denis Vivien
Subjects: Biology
Published: 2019

21. Cutaneous and Mixed Nerve Silent Period Recordings in Symptomatic Paroxysmal Kinesigenic Dyskinesia

Author: Gilles Defer, J. Cogez, Nathalie Derache, and Olivier Etard
Subjects: Mixed nerve silent period, Article, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Tumefactive demyelination, medicine, 030212 general & internal medicine, Dystonia, business.industry, Mixed nerve, Paroxysmal dyskinesia, musculoskeletal system, medicine.disease, Spinal cord, Psychiatry and Mental health, Cutaneous silent period, medicine.anatomical_structure, Neurology, Anesthesia, cardiovascular system, Silent period, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: Objective: The underlying neurophysiologic mechanism responsible for secondary paroxysmal kinesigenic dyskinesia (PKD) is still unclear. Here, we study the pathogenesis of PKD in two patients with a demyelinating lesion in the spinal cord. Methods: Electromyogram recordings from affected arms of two patients with spinal cord lesions presenting PKD were compared with our laboratory standards. The cutaneous silent period (CuSP), mixed nerve silent period (MnSP) and coincidence period (CiP), defined as the common period between the CuSP and MnSP, were recorded. Results: A large decrease in the MnSP and disappearance of the CiP were observed in our patients, which was secondary to simultaneous extinction of the third portion of the MnSP, while the CuSP was normal. The MnSP and CiP were normal after recovery. Conclusions: Our results demonstrate that the third portion of the MnSP and the CuSP do not correspond to the same physiologic process. These findings suggest that PKD patients have abnormal spinal interneuron integration.
Published: 2016

22. Forme sévère d’angiopathie amyloïde cérébrale inflammatoire atypique chez une jeune femme : à propos d’un cas

Author: Pierre Branger, Estelle La Porte, Françoise Chapon, Olivier Martinaud, and Nathalie Derache
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction L’angiopathie amyloide cerebrale inflammatoire (AAC-i) est une forme rare d’angiopathie amyloide. Son diagnostic peut etre difficile du fait d’une semiologie clinique et radiologique heterogene, necessitant parfois l’examen anatomopathologique. Observation Une patiente de 55 ans a presente un deficit neurologique focal central severe a deux reprises (en 2015 et 2019). L’IRM cerebrale objectivait a chaque episode, des hypersignaux FLAIR etendus pseudo-tumoraux de la substance blanche, supra et infra-tentoriels, sans prise de contraste en sequence T1 ni hyposignal en sequence T2*. Le bilan biologique auto-immun et infectieux etait negatif, hormis la presence d’une meningite avec hyperproteinorachie et hypercellularite a predominance neutrophile. Le premier evenement etait totalement et spontanement regressif. Lors du deuxieme episode, l’absence d’amelioration et l’apparition des troubles de la vigilance a conduit a la realisation d’une biopsie cerebrale. L’anatomopathologie etait en faveur d’une angiopathie amyloide cerebrale de forme inflammatoire, du fait de depots amyloides au niveau des parois vasculaires. L’arteriographie cerebrale ne mettait pas en evidence de vascularite associee. Un traitement associant corticotherapie (bolus puis relai per os) et Cyclophosphamide IV a permis une amelioration rapide sur le plan radiologique et plus progressive sur le plan clinique. Discussion Plusieurs atypies sont a souligner : – clinique : âge jeune, recurrence a 4 ans, absence de crise convulsive et d’atteinte cognitive ; – radiologique : absence d’hematome, de micro-saignements et de siderose corticale. Les criteres diagnostiques classiques d’AAC-i n’etant pas remplis ici, seule l’anatomopathologie a permis une confirmation diagnostique, menant ainsi a une prise en charge adaptee. Conclusion Bien qu’il existe des criteres clinico-radiologiques permettant de classer le diagnostic d’AAC-i en probable ou possible, certains cas de formes atypiques doivent conduire a l’examen anatomopathologique qui reste essentiel.
Published: 2020

23. TeleSEP: development of platform to regional tele-expertise in multiple sclerosis

Author: Gilles Defer, Clément LEROUX, and Nathalie Derache
Published: 2018

24. Quality of life and SR-fampridine in multiple sclerosis patients

Author: Damien Chevanne, Gilles Defer, and Nathalie Derache
Published: 2018

25. Treating asymptomatic bacteriuria before immunosuppressive therapy during multiple sclerosis: Should we do it?

Author: Claire Rouzaud, Patrick Hautecoeur, Cécile Donze, Olivier Heinzlef, Aurélien Dinh, Alain Creange, Alkhedr Abdullatif, Bertrand Audouin, Ayman Tourbah, Eric Berger, Bertrand Bourre, Bruno Brochet, Claude Mekies, Philippe Cabre, Caroline Papeix, Olivier Casez, David Brassat, Gilles Defer, Nathalie Derache, Jérôme De Seze, Dominique Dive, Emmanuelle LePage, Agnes Fromont, Riadh Gouider, Gilles Edan, Jean Pelletier, Jérôme Grimaud, Anne-Marie Guennoc, Jean-Philippe Camdessanché, Arnaud Kwiatkowski, David Laplaud, Christine Lebrun, Marc Debouverie, Marc Coustans, Olivier Gout, Olivier Anne La Rochelle, Jean-Christophe Ouallet, Pierre Cavelou, Pierre Labauge, Patrick Vermersch, Sandrine Wiertlewski, Sandra Vukusic, Romain Marignier, Myriam Schluep, Pierrette Seeldrayers, Ilham Slassi, Bruno Stankoff, Frederic Thaite, Thibault Moreau, Eric Thouvenot, Hélène Zephir, Jonhatan Ciron, Nicolas Collongues, Philippe Kerschen, Mikael Cohen, Antoine Gueguen, Guillaume Mathey, Clarisse Carra, Patricia Bernady, Jean Marc Faucheux, Evelyne Planque, Cecile Donze, Aurélie Ruet, Catherine Mouzawakh, Sophie Pittion, Service des Maladies Infectieuses et Tropicales [CHU Raymond Poincaré], Hôpital Raymond Poincaré [AP-HP], Groupe Hospitalier de l'institut Catholique de Lille (GHICL), Université catholique de Lille (UCL), CHI Poissy-Saint-Germain, Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut de Génomique Fonctionnelle (IGF), and Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS)
Subjects: 0301 basic medicine, medicine.medical_specialty, Bacteriuria, medicine.drug_class, medicine.medical_treatment, 030106 microbiology, Antibiotics, Prophylaxy, Multiple sclerosis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Multicenter Studies as Topic, Asymptomatic bacteriuria, ComputingMilieux_MISCELLANEOUS, Urinary tract infection, business.industry, Antibiotic, Immunosuppression, General Medicine, medicine.disease, 3. Good health, Anti-Bacterial Agents, Neurology, Immunology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), business, 030217 neurology & neurosurgery, Immunosuppressive Agents, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience
Published: 2017

26. Fatigue is associated with metabolic and density alterations of cortical and deep gray matter in Relapsing-Remitting-Multiple Sclerosis patients at the earlier stage of the disease: A PET/MR study

Author: Florence Mézenge, Blandine Grassiot, Gilles-Louis Defer, Audrey Emmanuelle Dugué, Béatrice Desgranges, Jean-Marc Constans, and Nathalie Derache
Subjects: Cerebral atrophy, Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Multiple sclerosis, Magnetic resonance imaging, General Medicine, medicine.disease, Pathophysiology, Neurology, Positron emission tomography, Basal ganglia, Cohort, Medicine, Neurology (clinical), Stage (cooking), business
Abstract: Fatigue is a common but complex symptom of multiple sclerosis. A central origin is now suggested as a key feature of its pathophysiology and gray matter (GM) structure seems to be (particularly) involved in the neurobiological basis of fatigue in multiple sclerosis (MS) patients.We investigated, in a cohort of 17 Relapsing-Remitting-MS patients recruited within three years of disease diagnosis, the link between fatigue severity evaluated by the EMIF-SEP (a validated self-report questionnaire in French), and metabolic and density alterations of GM using positron emission tomography (PET) and magnetic resonance (MR) imaging using SPM5 (statistical parametric morphometry) analysis and voxel-based-morphometry.Compared to patients without fatigue-MS (NF-MS) group, patients with fatigue-MS (F-MS) had significant reduction (with correctedp0.05) of GM density in clusters located in the bilateral middle, superior and inferior frontal cortex and in left temporal and parietal cortex. In addition, the total score for fatigue was negatively correlated with GM density in the same regional areas for the whole group. Total fatigue score was negatively correlated with GM density in bilateral thalamus (correctedp=0.04) and with rest cerebral metabolic rate of glucose (rCMRglu) in the basal ganglia (correctedp0.05). Juxtacortical and/or overlapping corticosubcortical lesion volume in frontal and temporal areas were significantly higher in the F-MS group compared to NF-MS patients.These results add new data suggesting that fatigue is associated with functional and structural changes of cerebral gray matter especially in frontal cortex and basal ganglia.
Published: 2013

27. A prospective observational post-marketing study of natalizumab-treated multiple sclerosis patients: clinical, radiological and biological features and adverse events. The BIONAT cohort

Author: Giovanni Castelnovo, Patrick Vermersch, B. Fontaine, William Camu, Audrey Rico, Nathalie Derache, Catherine Lubetzki, Marc Debouverie, Nicolas Couturier, Agnès Fromont, Eric Berger, Pierre Labauge, Bruno Brochet, Jean-Christophe Ouallet, C. Papeix, Eric Thouvenot, N Bohossian, Mikael Cohen, Thibault Moreau, Hélène Zéphir, Gilles-Louis Defer, David Brassat, David-Axel Laplaud, Christine Lebrun-Frenay, Olivier Outteryck, Pierre Clavelou, Cfsep, Ayman Tourbah, J. de Seze, Philippe Cabre, Patrick Hautecoeur, Jean Pelletier, Lucien Rumbach, Olivier Casez, Michel Clanet, Sophie Pittion, Jean-Claude Ongagna, and Sandrine Wiertlewski
Subjects: Adult, Male, medicine.medical_specialty, Antibodies, Monoclonal, Humanized, Cohort Studies, Multiple Sclerosis, Relapsing-Remitting, Natalizumab, Internal medicine, parasitic diseases, Product Surveillance, Postmarketing, medicine, Humans, Prospective Studies, Adverse effect, business.industry, Progressive multifocal leukoencephalopathy, Multiple sclerosis, medicine.disease, Surgery, Neurology, Radiological weapon, Cohort, Biomarker (medicine), Female, Observational study, Neurology (clinical), business, medicine.drug
Abstract: Background and purpose BIONAT is a French multicentric phase IV study of natalizumab (NTZ)-treated relapsing−remitting multiple sclerosis (MS) patients. The purpose of this study was to collect clinical, radiological and biological data on 1204 patients starting NTZ, and to evaluate the clinical/radiological response to NTZ after 2 years of treatment. Methods Patients starting NTZ at 18 French MS centres since June 2007 were included. Good response to NTZ was defined by the absence of clinical and radiological activity. Data analysed in this first report on the BIONAT study focus on patients who started NTZ at least 2 years ago (n = 793; BIONAT2Y). Results NTZ was discontinued in 17.78% of BIONAT2Y. The proportion of patients without combined disease activity was 45.59% during the first two successive years of treatment. Systematic dosage of anti-NTZantibodies (Abs) detected only two supplementary patients with anti-NTZ Abs compared with strict application of recommendations. A significant decrease of IgG,M concentrations at 2 years of treatment was found. Conclusions The efficacy of NTZ therapy on relapsing−remitting MS in a real life setting is confirmed in the BIONAT cohort. The next step will be the identification of biomarkers predicting response to NTZ therapy and adverse events.
Published: 2013

28. Is it worth to report the presence of a single and additional band in the cerebrospinal fluid detected by isoelectrofocusing?

Author: Camille Lefevre, Nathalie Derache, Stéphane Allouche, Sabine Fradin, and Frédérique Grandhomme
Subjects: Adult, Pathology, medicine.medical_specialty, Multiple Sclerosis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Cerebrospinal fluid, Predictive Value of Tests, medicine, Humans, 030212 general & internal medicine, Retrospective Studies, Clinically isolated syndrome, medicine.diagnostic_test, Lumbar puncture, business.industry, Multiple sclerosis, Magnetic resonance imaging, Retrospective cohort study, General Medicine, medicine.disease, Magnetic Resonance Imaging, Predictive value of tests, Immunoglobulin G, Disease Progression, Csf analysis, Female, Isoelectric Focusing, business, 030217 neurology & neurosurgery
Abstract: Despite the revisions of the Mac Donald criteria of multiple sclerosis (MS) in 2010, the cerebrospinal fluid (CSF) analysis by isoelectrofocusing (IEF) remains useful for atypical presentations of MS. The IEF is considered as positive when at least two or more additional bands are detected in the CSF by comparison with the patient's serum but sometimes, the IEF interpretation is more difficult. The goal of our study was to determine the significance when a single band in the CSF is detected by IEF. We conducted a retrospective study on 990 patients who underwent a lumbar puncture followed by a CSF analysis by IEF. Only 2% display such IEF profile (i.e. single and additional band in the CSF). A diagnosis of clinically isolated syndrome or MS was evidenced in 4 among those 21 patients. In conclusion, our data suggest that even if the presence of a single and additional band in the CSF is a rare situation, it should be mentioned to clinicians to not exclude the hypothesis of an inflammatory demyelinating disease of the central nervous system.
Published: 2016

29. CD62L test at 2 years of natalizumab predicts progressive multifocal leukoencephalopathy

Author: Béatrice, Pignolet, Nicholas, Schwab, Tilman, Schneider-Hohendorf, Florence, Bucciarelli, Damien, Biotti, Delphine, Averseng-Peaureaux, Olivier, Outteryck, Jean-Claude, Ongagna, Jérôme, de Sèze, Bruno, Brochet, Jean-Christophe, Ouallet, Marc, Debouverie, Sophie, Pittion, Gilles, Defer, Nathalie, Derache, Patrick, Hautecoeur, Ayman, Tourbah, Pierre, Labauge, Giovanni, Castelnovo, Pierre, Clavelou, Eric, Berger, Jean, Pelletier, Audrey, Rico, Hélène, Zéphir, David, Laplaud, Sandrine, Wiertlewski, William, Camu, Eric, Thouvenot, Olivier, Casez, Thibault, Moreau, Agnès, Fromont, Sandra, Vukusic, Caroline, Papeix, Patrick, Vermersch, Manuel, Comabella, Christine, Lebrun-Frenay, Heinz, Wiendl, David, Brassat, Pôle neurosciences [Hôpital de Purpan - Toulouse], CHU Toulouse [Toulouse], Centre de Physiopathologie Toulouse Purpan (CPTP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Lille, CHU Strasbourg, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Groupe Hospitalier de l'Institut Catholique de Lille (GHICL), Centre Hospitalier Universitaire de Reims (CHU Reims), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), CHU Clermont-Ferrand, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Grenoble, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hospices Civils de Lyon (HCL), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Nice (CHU Nice), Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Université catholique de Lille (UCL)
Subjects: 0301 basic medicine, medicine.medical_specialty, Multiple Sclerosis, genetic structures, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Natalizumab, Ophthalmology, Sensation, medicine, Humans, Immunologic Factors, Prospective Studies, L-Selectin, ComputingMilieux_MISCELLANEOUS, Retina, business.industry, Progressive multifocal leukoencephalopathy, Leukoencephalopathy, Progressive Multifocal, medicine.disease, Prognosis, eye diseases, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Phosphene, Visual cortex, Leukocytes, Mononuclear, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], sense organs, Neurology (clinical), business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, Biomarkers, medicine.drug, Follow-Up Studies
Abstract: Flashes of light or phosphenes are the sensation of light without light actually entering the eye. This phenomenon can be evoked by stimulation of the retina or the visual cortex of the brain and can appear unilaterally or bilaterally. From an ophthalmologic perspective, phosphenes can arise from photoreceptor induction by mechanical,1,2 inflammatory,3 or vascular4 stimuli. Therefore, it is necessary to determine the origin of phosphenes for further management. We encountered a patient who reported having phosphenes while moving his eyes laterally. We performed various ophthalmologic imaging studies to identify the origin of these phosphenes. Acknowledgment: The authors thank Florence Umuhoza, Lise Scandella, and Sarah Exbrayat for technical assistance and the patients for participation in the study.
Published: 2016

30. Télé-SEP : mise en place d’une plate-forme de télé expertise pour la prise en charge de la sclérose en plaques au sein de la Normandie occidentale

Author: Karine Hauchard, François Seguin, Nathalie Derache, and Gilles Defer
Subjects: 03 medical and health sciences, 0302 clinical medicine, Neurology, 030212 general & internal medicine, Neurology (clinical), 030217 neurology & neurosurgery
Abstract: Introduction Afin optimiser la prise en charge des patients atteints de SEP en terme de diagnostic et de traitement, un echange permanent est necessaire entre les neurologues et les centres experts. Objectifs Mettre en place la tele-expertise regionale (Tele-SEP) via une plate-forme d’echange electronique securisee a laquelle l’ensemble des neurologues de la region pourront recourir pour avis diagnostique ou therapeutique, sans deplacement. Patients et methodes Creation de Tele-SEP en collaboration entre le neurologue referent du projet et le GCS tele–sante de Basse-Normandie, soumise pour accord et financement aupres de l’ARS. Le dossier patient comprend une fiche de liaison, une fiche de renseignement patient, le graphique EDMUS et les donnees IRM (integrees via le PACS ou via les CD). Accord des neurologues et des services informatiques pour installation de la plate-forme sur les ordinateurs des neurologues puis formation a son utilisation. Resultats Trois ans ont ete necessaires entre la conception du projet tele-SEP et son utilisation. Le Tele-SEP est actuellement mis en place au sein du CHU de Caen, dans tous les centres hospitaliers peripheriques bas-normands sauf 1 et chez un tiers des neurologues liberaux. On note une satisfaction globale des utilisateurs en termes de communication : presentation homogene des dossiers (clinique et imagerie), absence de deplacement au CHU, integration des comptes rendus dans le dossier du patient et formation. Discussion L’integration de tous les acteurs (neurologues, ARS, GCS tele–sante, directions des services informatiques) des le debut a ete un facteur cle de reussite de ce projet tele-SEP. Tele-SEP est une plate-forme d’echange autour des dossiers patients afin d’optimiser leur prise en charge. La transmission des donnees est securisee et possible apres consentement du patient. Certains aspects techniques restent a ameliorer. Conclusion Notre projet s’inscrit dans le cadre des centres de ressources et competences du plan maladies Neurodegeneratives 2014–2019. Ainsi chaque patient de la region beneficie d’une prise en charge optimisee. Informations complementaires Remerciement a Biogen-Idec, partenaire sur le projet.
Published: 2017

31. High-risk syndrome for neuromyelitis optica: a descriptive and comparative study

Author: Hélène Zéphir, David Brassat, Romain Marignier, William Camu, Jean Pelletier, Patrick Vermersch, Aurélie Ruet, Olivier Gout, Bruno Brochet, Nicolas Collongues, Marie-Céline Fleury, Marc Debouverie, Pierre Labauge, J. de Seze, Eric Thouvenot, Frédéric Blanc, Sandra Vukusic, Thibault Moreau, Nathalie Derache, F. Borgel, Christian Confavreux, Gilles Defer, Olivier Outteryck, and Bertrand Audoin
Subjects: Adult, Male, medicine.medical_specialty, Pediatrics, Optic Neuritis, Time Factors, Adolescent, Myelitis, Kaplan-Meier Estimate, Risk Assessment, Asymptomatic, Transverse myelitis, Disability Evaluation, Young Adult, Sex Factors, Predictive Value of Tests, Recurrence, Risk Factors, Humans, Medicine, Optic neuritis, Age of Onset, Child, Aged, Retrospective Studies, Neuromyelitis optica, business.industry, Multiple sclerosis, Neuromyelitis Optica, Brain, Retrospective cohort study, Syndrome, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Surgery, Spinal Cord, Neurology, Disease Progression, Evoked Potentials, Visual, Female, France, Neurology (clinical), Age of onset, medicine.symptom, business
Abstract: Background: Neuromyelitis optica (NMO) frequently begins with a monofocal episode of optic neuritis or myelitis. A concept named high-risk syndrome (HRS) for NMO has been proposed for patients with monofocal episodes and NMO-IgG antibodies. Objective: To describe HRS patients and compare them with NMO patients. Methods: We identified 30 patients with HRS: 18 with extensive myelitis (HRM) and 12 with optic neuritis (HRON), in a database pooling patients from 25 centres in France. Clinical, laboratory/magnetic resonance imaging (MRI) data and outcome were analysed and compared with a national cohort of 125 NMO patients extracted from the same database. Results: Mean follow-up was 4.8 years. Mean age at onset was 42.8 years (range: 12.4–70) with a female:male ratio of 0.9. Asymptomatic lesions were report on visual evoked potentials in 4/8 tested HRM patients and on spinal cord MRI in 2/7 HRON patients. Three patients died, two owing to a cervical lesion. HRS and NMO patients had similar clinical/paraclinical data, except for a predominance of men in the HRS group and a later mean age at onset in the HRM subgroup. Conclusion: The description of HRS patients is compatible with a monofocal form of NMO. Asymptomatic lesions could be included in a new set of NMO diagnostic criteria.
Published: 2011

32. Prise en charge thérapeutique des troubles cognitifs dans la sclérose en plaques : données et perspectives

Author: Nathalie Derache, Gilles Defer, and F. Daniel
Subjects: Psychotherapist, business.industry, Multiple sclerosis, Cognitive disorder, MEDLINE, Cognition, Disease, medicine.disease, Cognitive training, Functional imaging, Neurology, Medicine, Neurology (clinical), business
Abstract: Taking in charge cognitive disorders is a new concept in the global care of MS patients. Cognitive disorders are observed in the all forms of the disease, sometimes early on in the evolution. These disorders can be evaluated in details even detected despite any complain in the patient. Because of the lack of clear demonstration that disease-modifying treatments could act on cognition, new specific therapeutic issues have emerged during last years. This article first discusses relationships between disease-modifying treatments and cognition for the different forms of the disease, then analyse the effects of symptomatic drug therapy especially the use of anticholinesterasics. In the last part of the article new issues about antagonists of excitatory amino-acids and individual or group cognitive training are discussed. Recent functional imaging data concerning cerebral adaptation and their modifications by drug or non-drug procedures in MS patients suggest interesting therapeutic development in a next future.
Published: 2007

33. Isolated tumefactive demyelinating lesions: diagnosis and long-term evolution of 16 patients in a multicentric study

Author: C. Lionnet, Luc Taillandier, Bruno Brochet, D. Sablot, Marc Debouverie, F. Viala, Luc Bauchet, S. Pittion-Vouyovitch, Jean Pelletier, Aurélie Siri, C. Lebrun Frenay, Aurélie Ruet, David Brassat, Gilles-Louis Defer, J. de Seze, Jean-Christophe Ouallet, Philippe Cabre, Nathalie Derache, Clarisse Carra-Dalliere, Xavier Ayrignac, Pierre Labauge, Mikael Cohen, Bertrand Audoin, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de Réactivité des Surfaces et des Interfaces (LRSI), Département de Physico-Chimie (DPC), CEA-Direction des Energies (ex-Direction de l'Energie Nucléaire) (CEA-DES (ex-DEN)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-CEA-Direction des Energies (ex-Direction de l'Energie Nucléaire) (CEA-DES (ex-DEN)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Haras National Suisse, Institut Polytechnique LaSalle Beauvais, Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Strasbourg, Laboratoire de l'Accélérateur Linéaire (LAL), Université Paris-Sud - Paris 11 (UP11)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris-Sud - Paris 11 (UP11)
Subjects: Adult, Male, Pathology, medicine.medical_specialty, Lesion, Disability Evaluation, Young Adult, Biopsy, medicine, Humans, Longitudinal Studies, ComputingMilieux_MISCELLANEOUS, Neuroradiology, Aged, Retrospective Studies, medicine.diagnostic_test, business.industry, Brain Neoplasms, Multiple sclerosis, Brain, Magnetic resonance imaging, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, 3. Good health, Neurology, Female, [SDV.IB]Life Sciences [q-bio]/Bioengineering, Neurology (clinical), Differential diagnosis, medicine.symptom, business, Rare disease, Demyelinating Diseases
Abstract: Isolated tumefactive demyelinating lesion (TDL) is a rare disease and a challenging entity especially for the differential diagnosis, biopsy indications, and therapeutic decisions. Long-term evolution is not well known. The objective of the study is to describe clinical and MRI characteristics and long-term follow-up of patients with isolated TDL. We performed a retrospective study including patients (1) with one TDL radiologically defined by a ≥20 mm FLAIR hyperintensity involving the white matter associated with T1 hypointensity that enhanced after gadolinium injection and (2) without any other MS lesion on the first MRI. Tumor, abscess, or other inflammatory diseases (ADEM, Balo’s concentric sclerosis, systemic disease) were excluded. Sixteen patients (11 females/5 males) were included. The mean age of onset was 35.7 years (range 20–65). MRI disclosed supratentorial lesions with a mean size of 39.4 mm and usually mild edema/mass effect. Peripheral (mainly open-ring pattern) and central (mainly heterogeneous) enhancement were respectively seen in 9/16 and 11/16 patients. CSF study (n = 15) found oligoclonal bands (OCB) in seven. A cerebral biopsy was performed in 11 cases showing acute inflammatory demyelination. Thirteen patients were treated by pulse steroids with marked improvement in ten. At last clinical follow-up (mean 65.8 months, range 6–181), diagnosis was MS in 5 (31 %), isolated TDL in 10 (63 %) and one patient had a second TDL (6 %). Isolated tumefactive demyelinating lesions are a rare diagnostic entity. After a mean follow-up of 5 years, almost one-third became MS whereas most of the patients had no further event.
Published: 2015

34. Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients

Author: Gilles Edan, Nicolas Collongues, Frédéric Blanc, Eloi Magnin, Marc Bataillard, Mickael Cohen, Thierry Levade, David Brassat, Jean-Philippe Neau, Patrizia Amati-Bonneau, Xavier Ayrignac, Maurice Giroud, Patrick Vermersch, Eric Berger, Cyril Goizet, Celine Bellesme, Clarisse Carra-Dalliere, Jean Louis Devoize, Christophe Verny, Anne Marie Guennoc, Pierre Labauge, Marc Debouverie, Pierre Clavelou, Thibault Moreau, Jean Pelletier, Laurent Magy, Bruno Brochet, Christian Denier, Jean-Philippe Camdessanché, Sandrine Wiertlewski, Nicolas Menjot de Champfleur, Jean-Christophe Ouallet, Gilles Defer, Frédérique Taithe, Elsa Kaphan, Nathalie Derache, Françoise Durand-Dubief, Michel Clanet, Sandra Vukusic, Christine Lebrun-Frenay, Stéphane Mathis, Olivier Outteryck, Bertrand Audoin, Lucie Guyant-Maréchal, Odile Boespflug Tanguy, Elisabeth Tournier-Lasserve, Didier Hannequin, Hélène Zéphir, Jean-Baptiste Chanson, Emmanuelle Le Page, Patrick Aubourg, Sophie Pittion, Jérôme De Seze, Imen Dorboz, Véronique Deburghgraeve, Giovanni Castelnovo, Dominique Bonneau, Julien Masliah-Planchon, David-Axel Laplaud, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université Montpellier 1 (UM1), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Department of Neuroradiology, Université Paris-Sud - Paris 11 (UP11)-Hôpital Bicêtre, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), CHU Marseille, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie [Strasbourg], CHU Strasbourg, Laboratoire d'imagerie et de neurosciences cognitives (Strasbourg), Laboratoire d'Imagerie et de Neurosciences Cognitives (LINC), Université Louis Pasteur - Strasbourg I-IFR37-Centre National de la Recherche Scientifique (CNRS)-Université Louis Pasteur - Strasbourg I-IFR37-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), RMN et optique : De la mesure au biomarqueur, Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint-Etienne, Centre Hospitalier Universitaire de Nice (CHU Nice), Pôle neurosciences [Hôpital de Purpan - Toulouse], CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire d'Immunologie (EA 2686), Université de Lille, Droit et Santé, Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Bordeaux [Bordeaux], Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre d'investigation clinique [Nancy] (CIC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de neurologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Vision, Action et Gestion d'informations en Santé (VisAGeS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE (IRISA-D5), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), CentraleSupélec-Télécom Bretagne-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Université de Bretagne Sud (UBS)-Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-CentraleSupélec-Télécom Bretagne-Université de Rennes 1 (UR1), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Université de Bretagne Sud (UBS)-Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA), Service de Neurologie [Rennes] = Neurology [Rennes], CHU Pontchaillou [Rennes], Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Gérontologie (BICETRE - Géronto), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique, PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CHU Clermont-Ferrand, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service de Neurologie [CHU Limoges], CHU Limoges, Centre Hospitalier d'Angoulême (CH Angoulême), Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux (Inserm U745), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement (IFR71), Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Sorbonne Paris Cité (USPC), Université de Montpellier (UM), Institut des Neurosciences de Montpellier (INM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Université Montpellier 1 ( UM1 ), Université Paris-Sud - Paris 11 ( UP11 ) -Hôpital Bicêtre, Centre Hospitalier Régional Universitaire de Nîmes ( CHRU Nîmes ), Centre de résonance magnétique biologique et médicale ( CRMBM ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire d'Imagerie et de Neurosciences Cognitives ( LINC ), Université Louis Pasteur - Strasbourg I-IFR37-Centre National de la Recherche Scientifique ( CNRS ) -Université Louis Pasteur - Strasbourg I-IFR37-Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ), Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé ( CREATIS ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon ( INSA Lyon ), Université de Lyon-Institut National des Sciences Appliquées ( INSA ) -Institut National des Sciences Appliquées ( INSA ) -Hospices Civils de Lyon ( HCL ) -Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), CHU Nice, Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Laboratoire d'Immunologie ( EA 2686 ), Centre hospitalier universitaire de Nantes ( CHU Nantes ), Université de Bordeaux ( UB ) -CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, CIC-Nancy, Institut Lorrain du Coeur et des Vaisseaux Louis Mathieu [Nancy]-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Vision, Action et Gestion d'informations en Santé ( VisAGeS ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE ( IRISA-D5 ), Institut de Recherche en Informatique et Systèmes Aléatoires ( IRISA ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Université de Bretagne Sud ( UBS ) -École normale supérieure - Rennes ( ENS Rennes ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National des Sciences Appliquées ( INSA ) -Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique ( CNRS ) -Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Université de Bretagne Sud ( UBS ) -École normale supérieure - Rennes ( ENS Rennes ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National des Sciences Appliquées ( INSA ) -Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche en Informatique et Systèmes Aléatoires ( IRISA ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Université de Bretagne Sud ( UBS ) -École normale supérieure - Rennes ( ENS Rennes ) -Institut National des Sciences Appliquées ( INSA ) -Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique ( CNRS ), Service de Neurologie [Rennes], Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Centre d'Investigation Clinique [Rennes] ( CIC ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de Gérontologie ( BICETRE - Géronto ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre, Centre Hospitalier Universitaire d'Angers ( CHU Angers ), PRES Université Nantes Angers Le Mans ( UNAM ), Biologie Neurovasculaire et Mitochondriale Intégrée, Université d'Angers ( UA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université d'Angers ( UA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), CHU Angers, Génétique du cancer et des maladies neuropsychiatriques ( GMFC ), Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de Neurologie [Caen], CHU Caen-Université de Caen Normandie ( UNICAEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Centre de recherche en épidémiologie et santé des populations ( CESP ), Université de Versailles Saint-Quentin-en-Yvelines ( UVSQ ) -Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), CHRU Tours, Centre hospitalier universitaire de Poitiers ( CHU Poitiers ), Centre Hospitalier d'Angoulême, Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux ( Inserm U745 ), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement ( IFR71 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Promoting Research Oriented Towards Early Cns Therapies ( PROTECT ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Sorbonne Paris Cité ( USPC ), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), and Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, Pathology, leukodystrophy, Adolescent, [SDV]Life Sciences [q-bio], White matter, Leukoencephalopathy, Young Adult, metabolic, Leukoencephalopathies, medicine, Humans, Age of Onset, 10. No inequality, CADASIL, Aged, Retrospective Studies, [ SDV ] Life Sciences [q-bio], medicine.diagnostic_test, business.industry, Leukodystrophy, Retrospective cohort study, Magnetic resonance imaging, Middle Aged, medicine.disease, Magnetic Resonance Imaging, White Matter, 3. Good health, Cerebrovascular Disorders, medicine.anatomical_structure, Cohort, Female, Neurology (clinical), France, Age of onset, genetic, business, MRI
Abstract: International audience; Inherited white matter diseases are rare and heterogeneous disorders usually encountered in infancy. Adult-onset forms are increasingly recognized. Our objectives were to determine relative frequencies of genetic leukoencephalopathies in a cohort of adult-onset patients and to evaluate the effectiveness of a systematic diagnostic approach. Inclusion criteria of this retrospective study were: (i) symmetrical involvement of white matter on the first available brain MRI; (ii) age of onset above 16 years. Patients with acquired diseases were excluded. Magnetic resonance imaging analysis identified three groups (vascular, cavitary and non-vascular/non-cavitary) in which distinct genetic and/or biochemical testing were realized. One hundred and fifty-four patients (male/female = 60/94) with adult-onset leukoencephalopathies were identified. Mean age of onset was 38.6 years. In the vascular group, 41/55 patients (75%) finally had a diagnosis [including CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, n = 32) and COL4A1 mutation, n = 7]. In the cavitary group, 13/17 (76%) patients had a diagnosis of EIF2B-related disorder. In the third group (n = 82), a systematic biological screening allowed a diagnosis in 23 patients (28%) and oriented direct genetic screening identified 21 additional diseases (25.6%). Adult-onset genetic leukoencephalopathies are a rare but probably underestimated entity. Our study confirms the use of a magnetic resonance imaging-based classification with a final diagnosis rate of 64% (98/154) cases.
Published: 2014

35. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

Author: Gaël, Nicolas, Cyril, Pottier, Camille, Charbonnier, Lucie, Guyant-Maréchal, Isabelle, Le Ber, Jérémie, Pariente, Pierre, Labauge, Xavier, Ayrignac, Luc, Defebvre, David, Maltête, Olivier, Martinaud, Romain, Lefaucheur, Olivier, Guillin, David, Wallon, Boris, Chaumette, Philippe, Rondepierre, Nathalie, Derache, Guillaume, Fromager, Stéphane, Schaeffer, Pierre, Krystkowiak, Christophe, Verny, Snejana, Jurici, Mathilde, Sauvée, Marc, Vérin, Thibaud, Lebouvier, Olivier, Rouaud, Christel, Thauvin-Robinet, Stéphane, Rousseau, Anne, Rovelet-Lecrux, Thierry, Frebourg, Dominique, Campion, Didier, Hannequin, Service de neurologie [Rouen], CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière ( CRICM ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Imagerie cérébrale et handicaps neurologiques, Université Paul Sabatier - Toulouse 3 ( UPS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Neurologie vasculaire, pathologie neuro-dégénérative et explorations fonctionnelles du système nerveux [Toulouse], Université Paul Sabatier - Toulouse 3 ( UPS ) -CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], Centre de résonance magnétique biologique et médicale ( CRMBM ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Centre National de la Recherche Scientifique ( CNRS ), CHU Rouen, Génétique du cancer et des maladies neuropsychiatriques ( GMFC ), Service de neurochirurgie [Rouen], Department of Biology [Utah], University of Utah, Service de neurologie [Amiens], CHU Amiens-Picardie, Service de Gérontologie ( BICETRE - Géronto ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre, Comportement et noyaux gris centraux [Rennes], Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Université européenne de Bretagne ( UEB ) -CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes (INCR), Service de Neurologie [Rennes], Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service d'anesthésie réanimation chirurgicale, Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou, Foie, métabolismes et cancer, Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Neurologie, Université Montpellier 1 ( UM1 ) -Hôpital Guy de Chauliac-Centre Mémoire Ressources Recherche Languedoc - Roussillon, Génétique des Anomalies du Développement ( GAD ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Imagerie cérébrale et handicaps neurologiques (ICHN), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Normandie Université (NU)-Normandie Université (NU), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Service de neurochirurgie [CHU Rouen], Service de Gérontologie (BICETRE - Géronto), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Comportement et noyaux gris centraux = Behavior and Basal Ganglia [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes (INCR), Service de Neurologie [Rennes] = Neurology [Rennes], CHU Pontchaillou [Rennes], Service d'anesthésie réanimation chirurgicale [Rennes], Hôpital Pontchaillou-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université Montpellier 1 (UM1)-Hôpital Guy de Chauliac-Centre Mémoire Ressources Recherche Languedoc - Roussillon, Génétique des Anomalies du Développement (GAD), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou, Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Rennes (UR)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes = Institute of Clinical Neurosciences of Rennes (INCR), Université de Rennes (UR)-Hôpital Pontchaillou, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université Montpellier 1 (UM1)-Hôpital Gui de Chauliac [CHU Montpellier], and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre Mémoire Ressources Recherche Languedoc - Roussillon
Subjects: Adult, Male, Pathology, medicine.medical_specialty, Movement disorders, [SDV]Life Sciences [q-bio], Basal ganglia calcification, PDGFRB, Biology, Asymptomatic, Receptor, Platelet-Derived Growth Factor beta, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Basal Ganglia Diseases, Basal ganglia, medicine, Humans, Single-Blind Method, 030304 developmental biology, Aged, Aged, 80 and over, 0303 health sciences, [ SDV ] Life Sciences [q-bio], Genetic heterogeneity, Sodium-Phosphate Cotransporter Proteins, Type III, Calcinosis, Neurodegenerative Diseases, Middle Aged, medicine.disease, 3. Good health, Pedigree, Phenotype, Etiology, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, 030217 neurology & neurosurgery, Calcification
Abstract: International audience; Idiopathic basal ganglia calcification is characterized by mineral deposits in the brain, an autosomal dominant pattern of inheritance in most cases and genetic heterogeneity. The first causal genes, SLC20A2 and PDGFRB, have recently been reported. Diagnosing idiopathic basal ganglia calcification necessitates the exclusion of other causes, including calcification related to normal ageing, for which no normative data exist. Our objectives were to diagnose accurately and then describe the clinical and radiological characteristics of idiopathic basal ganglia calcification. First, calcifications were evaluated using a visual rating scale on the computerized tomography scans of 600 consecutively hospitalized unselected controls. We determined an age-specific threshold in these control computerized tomography scans as the value of the 99th percentile of the total calcification score within three age categories: 60 years. To study the phenotype of the disease, patients with basal ganglia calcification were recruited from several medical centres. Calcifications that rated below the age-specific threshold using the same scale were excluded, as were patients with differential diagnoses of idiopathic basal ganglia calcification, after an extensive aetiological assessment. Sanger sequencing of SLC20A2 and PDGFRB was performed. In total, 72 patients were diagnosed with idiopathic basal ganglia calcification, 25 of whom bore a mutation in either SLC20A2 (two families, four sporadic cases) or PDGFRB (one family, two sporadic cases). Five mutations were novel. Seventy-one per cent of the patients with idiopathic basal ganglia calcification were symptomatic (mean age of clinical onset: 39 ± 20 years; mean age at last evaluation: 55 ± 19 years). Among them, the most frequent signs were: cognitive impairment (58.8%), psychiatric symptoms (56.9%) and movement disorders (54.9%). Few clinical differences appeared between SLC20A2 and PDGFRB mutation carriers. Radiological analysis revealed that the total calcification scores correlated positively with age in controls and patients, but increased more rapidly with age in patients. The expected total calcification score was greater in SLC20A2 than PDGFRB mutation carriers, beyond the effect of the age alone. No patient with a PDGFRB mutation exhibited a cortical or a vermis calcification. The total calcification score was more severe in symptomatic versus asymptomatic individuals. We provide the first phenotypical description of a case series of patients with idiopathic basal ganglia calcification since the identification of the first causative genes. Clinical and radiological diversity is confirmed, whatever the genetic status. Quantification of calcification is correlated with the symptomatic status, but the location and the severity of the calcifications don't reflect the whole clinical diversity. Other biomarkers may be helpful in better predicting clinical expression.
Published: 2013

36. No evidence for genetic association between glutamate transporter EAAT2 and Devic's neuromyelitis optica in caucasians and afro-caribbeans

Author: Vincent Hanoux, Gilles Defer, Romain Marignier, Audrey Emmanuelle Dugué, Stéphane Allouche, Gabrielle Rudolf, Nathalie Derache, Philippe Cabre, Jérôme De Seze, and Laurent Coulbault
Subjects: Genetics, Neuromyelitis optica, business.industry, Multiple sclerosis, Single-nucleotide polymorphism, General Medicine, medicine.disease, Genotype frequency, Exon, Neurology, Glutamate homeostasis, medicine, Neurology (clinical), business, Gene, Genetic association
Abstract: Devic's neuromyelitis optica (NMO) is a severe inflammatory and autoimmune disease producing demyelinating lesions. Recent data suggest that a complex genetic component could be involved. While impairment of glutamate homeostasis has emerged as a contributing etiological factor in NMO, a genetic alteration of Excitatory Amino Acid Transporter 2 ( EAAT2/SLC 1 A2 ), the major glutamate transporter in the Central Nervous System (CNS), could contribute to glutamate excitotoxicity and then must be considered. We evaluated whether mutations and/or single nucleotide polymorphisms (SNPs) in EAAT2 gene, are associated with susceptibility to NMO. We studied a cohort of NMO sporadic cases including afro-caribbean patients ( n= 81; French cohort of Devic's neuromyelitis optica—NOMADMUS cohort) and compared to control subjects ( n= 56). We sequenced the whole coding region of EAAT2 gene and splicing consensus sequences flanking each exon. The results obtained from all NMO samples did not show any novel mutations and/or SNPs both in the coding region and splicing sites of EAAT2 gene compared to controls subjects. We reported three synonymous SNPs (rs752949, rs1042113 and rs7102949) but only rs7102949 was found in afro-caribbean. Genotype frequencies did not differ between patients and controls for the three SNPs in caucasians and afro-caribbeans (rs752949: p =0.71 and p =0.37, respectively; rs1042113: p =0.73 and p =0.35, respectively; rs7102949: p =0.08 in afro-caribbeans). Our data showed no evidence for a genetic association between EAAT2 gene and Devic's neuromyelitis optica.
Published: 2012

37. Une parésie ataxique révélant une encéphalopathie de Hashimoto avec euthyroïdie

Author: Gilles Defer, Valérie Jaillon-Rivière, Maxime Fournier, Nathalie Derache, and Pierre Branger
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction L’encephalopathie de Hashimoto (EH) associe encephalopathie et augmentation des anticorps anti-thyroperoxydase (Ac anti-TPO). Ce cas illustre l’interet de sa recherche devant un tableau d’encephalopathie inexpliquee, et des criteres diagnostiques. Observation Un patient de 43 ans, sans antecedent particulier ni traitement, a presente des cephalees frontales pendant 48 heures puis brutalement une paresie ataxique brachio-faciale gauche associee a un syndrome confusionnel, une dysarthrie et des paresthesies des quatre membres. L’IRM cerebrale a montre un aspect d’œdeme bi-temporal et l’electro-encephalogramme a retrouve une souffrance hemispherique droite (ondes theta-delta) avec des elements aigus en region temporale droite sans figure epileptique. L’analyse du liquide cephalo-rachidien (LCR) a mis en evidence une meningite lymphocytaire (150 elements) avec hyperproteinorachie a 1,01 g/L. Les symptomes etaient spontanement resolutifs en 24 heures. La recidive des cephalees dix jours plus tard avec de nouveau des paresthesies des quatre membres a justifie une seconde ponction lombaire mettant en evidence un fort taux d’Ac anti-TPO dans le LCR. Les dosages sanguins ont egalement retrouve un taux eleve d’Ac anti-TPO alors que la TSH etait normale. Le reste du bilan etiologique (infectieux, auto-immun, tumoral, vasculaire) etait negatif. Les symptomes ont une nouvelle fois regresse en moins de 24 heures sans traitement. La presence d’Ac anti-TPO a ete par la suite confirmee dans le sang, alors que la TSH etait normale. Discussion L’EH est une cause rare d’encephalopathie et de meningo-encephalite avec des symptomes revelateurs tres varies. La prevalence des Ac anti-TPO dans le sang dans la population generale variant de 4,4 a 25 %, leur recherche dans le LCR est un critere diagnostique plus solide qu’il convient de rechercher meme en cas d’euthyroidie puisque le lien entre encephalopathie et thyroidite reste discutable. Conclusion L’EH est rare mais probablement sous-diagnostiquee. Sa recherche devrait etre systematique en cas d’encephalopathie inexpliquee, par la recherche d’Ac anti-TPO dans le LCR meme en cas d’euthyroidie.
Published: 2016

38. Inflammatory-like presentation of CADASIL: a diagnostic challenge

Author: Nathalie Derache, Gilles Defer, Jérôme De Seze, Frédéric Blanc, Nicolas Collongues, and Pierre Labauge
Subjects: Pathology, medicine.medical_specialty, Clinical Neurology, Cerebral vasculitis, Myelitis, Case Report, CADASIL, lcsh:RC346-429, Leukoencephalopathy, Diagnosis, Differential, Multiple sclerosis, Medicine, Humans, Optic neuritis, Glatiramer acetate, lcsh:Neurology. Diseases of the nervous system, business.industry, Leukodystrophy, Notch3, General Medicine, Middle Aged, medicine.disease, diagnosis, etiology, Encephalitis, Female, Neurology (clinical), business, Aucun, medicine.drug
Abstract: Background CADASIL is an autosomal dominant genetic leukoencephalopathy linked to mutations in the Notch3 gene. In rare cases, widespread brain lesions on T2 MRI mimicking multiple sclerosis are observed. From a national registry of 268 patients with adult-onset leukodystrophy, we identified two patients with an atypical presentation of CADASIL without co-occurrence of another systemic disease. Case presentations Patient 1 experienced progressive gait disability and patient 2 relapsing optic neuritis and sensory-motor deficit in the leg. Both patients responded to corticotherapy and patient 2 was also responsive to glatiramer acetate. No oligoclonal bands were found in the CSF, and MRI showed myelitis and lesions with gadolinium enhancement in brain (patient 1) or incomplete CADASIL phenotype (patient 2). Conclusions In rare cases, an inflammatory-like process can occur in CADASIL. In these patients, immunomodulatory treatments, including corticosteroids, could be effective.
Published: 2012

39. Relapsing polychondritis revealed by basal ganglia lesions

Author: Teodor Danaila, Gilles-Louis Defer, Jean-Marc Constans, Nathalie Derache, Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Sérine protéases et physiopathologie de l'unité neurovasculaire, Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Départment de Neuroradiologie [CHU Caen]
Subjects: Male, Pathology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Anti-Inflammatory Agents, Pain, [SDV.CAN]Life Sciences [q-bio]/Cancer, Basal Ganglia, 03 medical and health sciences, 0302 clinical medicine, Basal Ganglia Diseases, Basal ganglia, medicine, Humans, Polychondritis, Relapsing, Basal ganglia disease, Relapsing polychondritis, ComputingMilieux_MISCELLANEOUS, Aged, 030203 arthritis & rheumatology, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Parkinson Disease, medicine.disease, Magnetic Resonance Imaging, Tomography x ray computed, Neurology, Joints, Neurology (clinical), business, Tomography, X-Ray Computed, 030217 neurology & neurosurgery
Abstract: International audience
Published: 2012

40. CD49d expression as a promising biomarker to monitor natalizumab efficacy

Author: Brigitte Cauquelin, Brigitte Le Mauff, Gilles Defer, Nathalie Derache, Olivier Toutirais, Delphine Mariotte, and Hélène Legros
Subjects: Adult, Male, medicine.drug_class, Integrin alpha4, Monoclonal antibody, Antibodies, Monoclonal, Humanized, Asymptomatic, Peripheral blood mononuclear cell, Antibodies, Monocytes, Drug Hypersensitivity, Young Adult, Natalizumab, Multiple Sclerosis, Relapsing-Remitting, Antigen, Recurrence, Medicine, Humans, Lymphocytes, Treatment Failure, Monitoring, Physiologic, biology, business.industry, Multiple sclerosis, Middle Aged, medicine.disease, Antibodies, Neutralizing, Kinetics, Neurology, Immunology, biology.protein, Biomarker (medicine), Female, Neurology (clinical), medicine.symptom, Antibody, business, Biomarkers, medicine.drug
Abstract: Natalizumab (Tysabri™), a monoclonal antibody against the α4-integrin of VLA-4 (CD49d) antigen of leukocytes, is highly effective in multiple sclerosis (MS). The most common reason for treatment failure is the development of neutralizing antibodies (NAbs). According to health authorities Nabs testing is recommended in case of relapse or repeated infusion reactions. However NAbs may develop in clinically asymptomatic patients. In this study we investigated if CD49d expression could serve as a biomarker of natalizumab bioavailability and treatment response. In a cohort of 49 natalizumab treated relapsing-remitting MS, followed over 2 years, CD49d expression was determined on peripheral blood mononuclear cells (PBMCs) before each infusion and compared to NAbs and serum natalizumab levels. In a majority of patients (41/49) the CD49d expression in PBMCs was strongly inhibited (> 50%) after the first infusion and maintained at low levels throughout the treatment period. In contrast, in eight patients (16%) there was an early recovery of CD49d expression to pre-treatment levels related to NABs development. While three cases experienced hypersensitivity reactions, three others were identified solely on the basis of an undiminished level of CD49d, with neither infusion reaction nor clinical worsening. These 3 patients had very high levels of NAbs and no detectable serum natalizumab. Two additional patients had early but transient recovery of CD49d expression. These patients had low levels of transient Nabs and returned to significant CD49d inhibition after few natalizumab infusions. We suggest that monitoring of CD49d expression can be used as a surrogate biomarker of natalizumab efficiency. If the CD49d expression is sustained at pre-treatment levels, patients should be tested for persistent NAbs and considered for treatment interruption.
Published: 2011

41. Application des critères MacDonald 2010 pour le diagnostic de sclérose en plaques à une cohorte de patients présentant un syndrome cliniquement isolé médullaire

Author: Hélène Zéphir, Patrick Vermersch, Nathalie Derache, Bertrand Bourre, A. Vandendriessche, J. de Seze, and David Maltête
Subjects: Neurology, Neurology (clinical)
Published: 2014

42. Carcinome épidermoïde de l’œsophage associé à une neuronopathie sensitive paranéoplasique : un cas clinique

Author: Fausto Viader, Nathalie Derache, Emannuelle Lechapt, and Mada Hamieh-Berro
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction Quelques rares syndromes neurologiques paraneoplasiques ont ete decrits dans le cancer de l’œsophage, ces syndromes affectent a la fois le systeme nerveux central et peripherique. Observation Nous presentons le cas d’un homme de 71 ans avec decouverte d’un cancer de l’œsophage dans le cadre du bilan d’une neuropathie peripherique. Trois mois avant le diagnostic de cancer de l’œsophage, le patient s’est presente avec des douleurs et des paresthesies qui ont commence au niveau du membre superieur droit, puis se sont etendues aux quatre extremites. L’electromyogramme a montre une diminution ou abolition des potentiels sensitifs sans anomalies des vitesses de conduction ou des potentiels moteurs. L’analyse du liquide cephalorachidien montrait une hyper-proteinorachie, mais aucun anticorps onconeuronal n’a ete retrouve. Les symptomes neurologiques s’aggravent malgre un traitement par des immunoglobulines par voie intraveineuse et le patient devient ataxique. Devant cette deterioration clinique malgre le traitement et la presence de plusieurs criteres en faveur d’une neuronopathie sensitive, un TEP scan a ete fait et montrait une hyper-fixation au niveau du tiers inferieur de l’œsophage ainsi que de multiples ganglions lymphatiques peritoneaux. La biopsie retrouvait un carcinome epidermoide de l’œsophage. Deux mois apres une radio-chimiotherapie combinee, les symptomes neurologiques se sont ameliores. Discussion Seuls quelques cas de neuropathies peripheriques paraneoplasiques associees au cancer de l’œsophage aient ete decrits dans la litterature, en particulier associees au carcinome epidermoide de l’œsophage. Ce cas confirme que ce cancer doit etre considere parmi d’autres en cas de neuronopathie sensitive inexpliquee meme si aucun anticorps onconeuronal n’a ete retrouve. Conclusion L’origine paraneoplasique du syndrome neurologique a ete evoquee sur la base de survenue d’un cancer dans les deux ans apres le debut des symptomes et devant l’exclusion de toute autre cause connue de neuropathie peripherique.
Published: 2015

43. Névrite optique et anti-TNF alpha : description de 30 cas issus de la base nationale de pharmacovigilance française

Author: Agnès Fromont, Marie-Alice Laville, Mikael Cohen, Brigitte Mosquet, Antoine Coquerel, Nathalie Derache, Gilles Defer, Hélène Zéphir, and Christophe Breuilly
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction Les anti-TNFα indiques dans certaines maladies inflammatoires rhumatologiques et digestives sont responsables de differents effets indesirables neurologiques peripheriques et centraux (en particulier neuropathie optique). Objectifs Decrire les caracteristiques cliniques et paracliniques des neuropathies optiques (NO) survenues sous anti-TNFα sur le territoire national francais. Methodes Nous avons inclus tous les cas spontanement rapportes de NO survenues sous anti-TNFα enregistres dans la base de pharmacovigilance francaise ou inclus dans les bases de donnees des neurologues du club francophone de la sclerose en plaques jusqu’en mai 2013. Trente cas de NO survenues sous anti-TNFα (28 patients [25 F/3 M]) ont ete inclus. L’âge moyen de la cohorte etait de 43 ans (±14,8). Resultats La NO etait secondaire a l’infliximab dans 43 % des cas et a l’adalimumab et a l’etanercept pour un tiers des cas. La duree moyenne de traitement etait de 273 jours pour infliximab, 406 jours pour l’adalimumab et de 256 jours. La NO etait unilaterale dans 2/3 des cas et bilaterale dans 1/3. Il n’existait pas de specificite clinique. L’anti-TNFα etait arrete dans 75 % des cas et moins de 50 % avaient recu des corticosteroides. Une amelioration etait observee chez 75 % des NO. Discussion La NO est le plus frequent des evenements demyelinisants survenant sous anti-TNFα mais reste rare. Malgre les limites de cette etude (declarations spontanees, pas de suivi longitudinal et absence de groupe controle), les NO secondaires aux anti-TNFα n’ont pas de signe specifique et semblent avoir un pronostic favorable apres arret du traitement. Elles semblent secondaires plutot a un mecanisme demyelinisant que toxique. Conclusion Il est important de reporter systematiquement les evenements demyelinisants survenant sous anti-TNFα dans les bases de pharmacovigilance. Les donnees collectees pourront servir a l’elaboration de guidelines.
Published: 2015

44. Influence de la fampridine sur la fatigue et la qualité de vie dans la sclérose en plaque

Author: Christian Creveuil, Damien Chevanne, Nathalie Derache, Dominique Dress, Lin Li, and Gilles Defer
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction La fampridine est un traitement visant a ameliorer la marche dans la sclerose en plaques (SEP). L’impact de cette molecule sur la fatigue et la qualite de vie des patients n’a pas ete etudie. Objectifs Etudier l’effet de la fampridine sur la fatigue et la qualite de vie chez les patients atteints de SEP. Methodes Nous avons inclus des patients presentant une SEP cliniquement definie, ayant une indication a un traitement par fampridine selon l’AMM. Dans ce groupe, nous avons evalue la fatigue et la qualite de vie respectivement par l’EMIF-SEP (auto-questionnaire valide en langue francaise) qui permet d’etudier quatre dimensions (cognitive, physique, sociale et psychologique) et par l’auto-questionnaire TSL-Qol10. Nous avons compare les scores de ces auto-questionnaires a l’inclusion et a un mois de traitement. Resultats Cinquante-deux patients (âge moyen : 53 ± 8.1 ans/EDSS moyen etait de 68,27 ± 13,96 et le score moyen au TSL-Qol10 de 4,11 ± 2,34. A un mois de traitement, les patients presentaient une reduction significative du score global de fatigue a l’EMIF-SEP ( p p Discussion La fatigue est a la fois un symptome frequent et invalidant et aucun traitement n’a montre d’efficacite sur ce symptome dans la SEP. Dans notre etude, La fatigue diminue de facon significative apres 1 mois de fampridine chez les patients pour lesquels ce traitement est efficace sur la marche et cela, independamment du score EDSS. Par ailleurs, il s’agit de la premiere etude montrant une efficacite de la fampridine sur la qualite de vie. Conclusion La fampridine pourrait constituer un traitement efficace de la fatigue, ceci non seulement sur la dimension physique mais egalement cognitive, psychique et sociale. Ce resultat reste a confirmer sur de plus grandes cohortes.
Published: 2015

45. Reduced thalamic and cerebellar rest metabolism in relapsing-remitting multiple sclerosis, a positron emission tomography study: correlations to lesion load

Author: Gilles-Louis Defer, Jean-Marc Constans, Nathalie Derache, and R.M. Marié
Subjects: Adult, Male, medicine.medical_specialty, Pathology, Fluorine Radioisotopes, Thalamus, Statistics as Topic, Brain mapping, Functional Laterality, Central nervous system disease, White matter, Multiple Sclerosis, Relapsing-Remitting, Fluorodeoxyglucose F18, Internal medicine, Cerebellum, medicine, Humans, Fluorodeoxyglucose, Brain Mapping, Resting state fMRI, medicine.diagnostic_test, Magnetic resonance imaging, Middle Aged, medicine.disease, medicine.anatomical_structure, Glucose, Neurology, Positron emission tomography, Case-Control Studies, Positron-Emission Tomography, Cardiology, Linear Models, Female, Neurology (clinical), Psychology, medicine.drug
Abstract: Magnetic resonance imaging (MRI) is the main tool for detecting central nervous system lesions in MS. However, classical anatomical MRI is unable to assess exactly disease related injury in normal-appearing brain tissue and to give information about the functional consequences of the disease, explaining weak correlation frequently observed between lesion load and clinical data. Recently, functional brain imaging techniques have provided new insights concerning pathophysiological processes of the disease. Among them Positron Emission Tomography (PET), a sensitive technique to evaluate functional consequences of tissue injury in other neurological diseases, has rarely been used in MS. Seventeen Relapsing-Remitting (RR-) MS patients with low disability at the early stage of the disease underwent measurements of cerebral metabolic rate of glucose (rCMRglu) in resting state by PET using [(18)F] fluorodeoxyglucose (FDG) and assessment of regional cortical and white matter lesion volume (LV), using an in-house-developed semi-automatic method, was done at the same time on MRI. rCMRglu of MS patients was compared with rCMRglu of 18 normal control subjects using univariate SPM99 analysis through Matlab 5 and correlations between rCMRglu and LV were tested using multivariate linear regression using SPM99. Statistical threshold was set at p
Published: 2005

46. Encéphalomyélite aiguë disséminée au cours d’un traitement par agoniste de la GnRH. Rapport d’un cas

Author: Jeanine Kamsu N, Gilles Defer, Domitille Dilly, and Nathalie Derache
Subjects: Neurology, Neurology (clinical)
Published: 2012

47. La présentation inflammatoire du CADASIL : un challenge diagnostique

Author: Nicolas Collongues, Gilles Defer, Nathalie Derache, Pierre Labauge, Jérôme De Seze, and Blanc Frédéric
Subjects: Neurology, Neurology (clinical)
Published: 2012

48. Unusual presentation of CADASIL with reversible coma and confusion

Author: Gilles-Louis Defer, F. Ledoze, Nathalie Derache, C. Lalevee, L. Carluer, and I. Le Ber
Subjects: Coma, medicine.medical_specialty, CADASIL Syndrome, Middle Aged, medicine.disease, Dermatology, Diagnosis, Differential, Dementia, Multi-Infarct, medicine, Humans, Female, Neurology (clinical), medicine.symptom, Presentation (obstetrics), CADASIL, Psychology, Confusion, Neuroscience, Aged
Published: 2002

49. Influence of Emotional Valence on Verbal Episodic Memory in Multiple Sclerosis (P04.110)

Author: Audrey Mondou, Rachida Makouri, Gilles Defer, Nathalie Derache, and Béatrice Desgranges
Subjects: Autobiographical memory, Multiple sclerosis, medicine, Neurology (clinical), Emotional valence, Verbal memory, medicine.disease, Psychology, Episodic memory, Cognitive psychology, Developmental psychology
Published: 2012

50. Increase of Infusion Interval Do Not Impair Natalizumab Efficacy in RR-MS Patients: A Pilot Study Based on Monthly Monitoring of CD49d (P06.166)

Author: B. Cauquelin, Delphine Mariotte, Gilles-Louis Defer, H. Legros, G. Lamotte, Nathalie Derache, B. Le Mauff, and Olivier Toutirais
Subjects: medicine.medical_specialty, Natalizumab, business.industry, Anesthesia, medicine, Interval (graph theory), Neurology (clinical), business, medicine.drug, Surgery
Published: 2012

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Publication Type

Journal

Database

Publisher

52 results on '"Nathalie Derache"'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources