Author: "Clarisse Carra-Dalliere" - Searchworks@Jio Institute Digital Library Search Results

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69 results on '"Clarisse Carra-Dalliere"'

1. 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
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2. A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy

Author: Hakim Si Ahmed, Ouardia Belarbi, Smail Daoudi, Pierre Labauge, Clarisse Carra-Dalliere, Schmitt Perrine, Sanchez Pauline, Séverine Drunate, and Hélène Cavé
Subjects: polr3a-related leukodystrophy, ataxo-spasmodic hypomyelinating leukodystrophy, genetics, +t%22">new mutation variant c.3892-5c > t, Medicine, Neurology. Diseases of the nervous system, RC346-429
Abstract: Polymerase III (Pol III) related leukodystrophy is a rare class of leukodystrophy, recently recognized affecting the nervous system and other body systems with typical clinical presentation and imaging results. The diagnosis is made by characteristic combination of clinical signs, brain magnetic resonance imaging results and the presence of pathogenic biallelic mutations in specific genes: POLR3A, POLR3B, POLR3C which encode the RNA polymerase III enzyme subunits. We present the case of a 32-year-old young man who presented with spastic ataxia due to a new rare mutation in the POLR3A gene, splicing variant c.3892-5C > T.
Published: 2022
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3. Immune‐mediated diseases involving central and peripheral nervous systems

Author: Aurelie Leboyan, Florence Esselin, Anne‐Laure Bascou, Claire Duflos, Ioana Ion, Mahmoud Charif, Giovanni Castelnovo, Clarisse Carra‐Dalliere, Xavier Ayrignac, Philippe Kerschen, Mohamed Chbicheb, Ludovic Nguyen, Alexandre T. J. Maria, Philippe Guilpain, Mathilde Carriere, Nicolas Menjot de Champfleur, Thierry Vincent, Alexandre Jentzer, Pierre Labauge, Jérôme J. Devaux, and Guillaume Taieb
Subjects: Neurology, Neurology (clinical)
Abstract: In addition to combined central and peripheral demyelination, other immune diseases could involve both the central nervous system (CNS) and peripheral nervous system (PNS).To identify immune-mediated diseases responsible for symptomatic combined central/peripheral nervous system involvement (ICCPs), we conducted a multicentric retrospective study and assessed clinical, electrophysiological, and radiological features of patients fulfilling our ICCP criteria.Thirty patients (20 males) were included and followed during a median of 79.5 months (interquartile range [IQR] = 43-145). The median age at onset was 51.5 years (IQR = 39-58). Patients were assigned to one of four groups: (i) monophasic disease with concomitant CNS/PNS involvement including anti-GQ1b syndrome (acute polyradiculoneuropathy + rhombencephalitis, n = 2), checkpoint inhibitor-related toxicities (acute polyradiculoneuropathy + encephalitis, n = 3), and anti-glial fibrillary acidic protein astrocytopathy (subacute polyradiculoneuropathy and meningoencephalomyelitis with linear gadolinium enhancements, n = 2); (ii) chronic course with concomitant CNS/PNS involvement including paraneoplastic syndromes (ganglionopathy/peripheral hyperexcitability + limbic encephalitis, n = 4); (iii) chronic course with sequential CNS/PNS involvement including POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes) syndrome (polyradiculoneuropathy + strokes, n = 2), histiocytosis (polyradiculoneuropathy + lepto-/pachymeningitis, n = 1), and systemic vasculitis (multineuropathy + CNS vasculitis/pachymeningitis, n = 2); and (iv) chronic course with concomitant or sequential CNS/PNS involvement including combined central and peripheral demyelination (polyradiculoneuropathy + CNS demyelinating lesions, n = 10) and connective tissue diseases (ganglionopathy/radiculopathy/multineuropathy + limbic encephalitis/transverse myelitis/stroke, n = 4).We diagnosed nine ICCPs. The timing of central and peripheral manifestations and the disease course help determine the underlying immune disease. When antibody against neuroglial antigen is identified, CNS and PNS involvement is systematically concomitant, suggesting a common CNS/PNS antigen and a simultaneous disruption of blood-nerve and blood-brain barriers.
Published: 2022
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4. Rebound syndrome in two cases of MS patients after teriflunomide cessation

Author: Pierre Labauge, Xavier Ayrignac, Pauline Prin, Mahmoud Charif, and Clarisse Carra-Dalliere
Subjects: Neurology (clinical), General Medicine
Published: 2022
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5. Pregnancy and neuromyelitis optica spectrum disorders: 2022 recommendations from the French Multiple Sclerosis Society

Author: Sandra Vukusic, Romain Marignier, Jonathan Ciron, Bertrand Bourre, Mikael Cohen, Romain Deschamps, Maxime Guillaume, Laurent Kremer, Julie Pique, Clarisse Carra-Dalliere, Laure Michel, Emmanuelle Leray, Anne-Marie Guennoc, David Laplaud, Géraldine Androdias, Caroline Bensa, Kevin Bigaut, Damien Biotti, Pierre Branger, Olivier Casez, Elodie Daval, Cécile Donze, Anne-Laure Dubessy, Cécile Dulau, Françoise Durand-Dubief, Benjamin Hebant, Arnaud Kwiatkowski, Julien Lannoy, Adil Maarouf, Eric Manchon, Guillaume Mathey, Xavier Moisset, Alexis Montcuquet, Thomas Roux, Elisabeth Maillart, Christine Lebrun-Frenay, 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), Hospices Civils de Lyon (HCL), Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), Université Toulouse III - Paul Sabatier (UT3), 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), CHU Rouen, Normandie Université (NU), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Les Hôpitaux Universitaires de Strasbourg (HUS), Centre de Référence des Maladies Inflammatoires Rares du Cerveau et de la Moelle (MIRCEM), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], École des Hautes Études en Santé Publique [EHESP] (EHESP), Département Méthodes quantitatives en santé publique (METIS), Centre de Recherches sur l'Action Politique en Europe (ARENES), Université de Rennes (UR)-Institut d'Études Politiques [IEP] - Rennes-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Centre National de la Recherche Scientifique (CNRS), Recherche sur les services et le management en santé (RSMS), Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Collectif de recherche handicap, autonomie et société inclusive (CoRHASI), 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), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications Grenoble - UMR 5525 (TIMC-IMAG), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA), 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 Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Hôpital Pasteur [Nice] (CHU)
Subjects: disease modifying treatments, Neurology, breastfeeding, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), pregnancy, Neuromyelitis optica, reproductive assistance
Abstract: Background: In 2020, the French Multiple Sclerosis (MS) Society (SFSEP) decided to develop a national evidence-based consensus on pregnancy in MS. As neuromyelitis optica spectrum disorders (NMOSD) shares a series of commonalities with MS, but also some significant differences, specific recommendations had to be developed. Objectives: To establish recommendations on pregnancy in women with NMOSD. Methods: The French Group for Recommendations in Multiple Sclerosis (France4MS) reviewed PubMed and universities databases (January 1975 through June 2021). The RAND/UCLA appropriateness method, which was developed to synthesise the scientific literature and expert opinions on health care topics, was used to reach a formal agreement. Fifty-six MS experts worked on the full-text review and initial wording of recommendations. A sub-group of nine NMOSD experts was dedicated to analysing available data on NMOSD. A group of 62 multidisciplinary healthcare specialists validated the final proposal of summarised evidence. Results: A strong agreement was reached for all 66 proposed recommendations. They cover diverse topics, such as pregnancy planning, follow-up during pregnancy and postpartum, delivery routes, loco-regional analgesia or anaesthesia, prevention of postpartum relapses, breastfeeding, vaccinations, reproductive assistance, management of relapses, and disease-modifying treatments. Conclusion: Physicians and patients should be aware of the new and specific evidence-based recommendations of the French MS Society for pregnancy in women with NMOSD. They should help harmonise counselling and treatment practise, allowing for better individualised choices.
Published: 2023
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6. Pregnancy and multiple sclerosis: 2022 recommendations from the French multiple sclerosis society

Author: Sandra Vukusic, Clarisse Carra-Dalliere, Jonathan Ciron, Elisabeth Maillart, Laure Michel, Emmanuelle Leray, Anne-Marie Guennoc, Bertrand Bourre, David Laplaud, Géraldine Androdias, Caroline Bensa, Kevin Bigaut, Damien Biotti, Pierre Branger, Olivier Casez, Mikael Cohen, Elodie Daval, Romain Deschamps, Cécile Donze, Anne-Laure Dubessy, Cécile Dulau, Françoise Durand-Dubief, Maxime Guillaume, Benjamin Hebant, Laurent Kremer, Arnaud Kwiatkowski, Julien Lannoy, Adil Maarouf, Eric Manchon, Guillaume Mathey, Xavier Moisset, Alexis Montcuquet, Julie Pique, Thomas Roux, Romain Marignier, Christine Lebrun-Frenay, 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), Observatoire Français de la Sclérose En Plaques [Lyon] (OFSEP), Université de Lyon, Fondation Eugène Devic EDMUS, Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), 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 Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Ressources et Compétences sclérose en plaques (CRC-SEP) [CHU Toulouse] (CRC-SEP ), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Ressources et de Compétences sur la Sclérose en Plaques (CRC-SEP) [CHU Pitié-Salpêtrière] (CRC-SEP Paris APHP), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], École des Hautes Études en Santé Publique [EHESP] (EHESP), Centre de Recherches sur l'Action Politique en Europe (ARENES), Université de Rennes (UR)-Institut d'Études Politiques [IEP] - Rennes-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Centre National de la Recherche Scientifique (CNRS), Recherche sur les services et le management en santé (RSMS), Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), 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), Hospices Civils de Lyon, Departement de Neurologie (HCL), Hôpital de la Fondation Ophtalmologique Adolphe de Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Ressources et de Compétences sur la Sclérose en Plaques (CRC-SEP) [Strasbourg] (CRC-SEP Alsace), Les Hôpitaux Universitaires de Strasbourg (HUS), 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), Université Grenoble Alpes (UGA), Translational Research in Autoimmunity and Inflammation Group (TIMC-T-RAIG), Translational Innovation in Medicine and Complexity / Recherche Translationnelle et Innovation en Médecine et Complexité - UMR 5525 (TIMC ), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications Grenoble - UMR 5525 (TIMC-IMAG), Centre Ressources et Compétences sclérose en plaques (CRC-SEP) [CHU de Nice Pasteur 2] (CRC-SEP Côte d'Azur), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Groupe Hospitalier de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL), Hôpital Saint Philibert [Lomme], Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Faculté de Médecine, Maïeutique, Sciences de la Santé - Campus VAUBAN [Lille] (F2M2S), CHU Saint-Antoine [AP-HP], Centre Ressources et Compétences sclérose en plaques (CRC-SEP) [CHU de Bordeaux] (CRC-SEP - Hôpital Pellegrin), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Normandie Université (NU), Centre Hospitalier de Lens, 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), Centre Hospitalier de Gonesse, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Neuro-Dol (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Unité de Recherche Clinique de la Côte d’Azur [Nice] (URRIS UR2CA), Université Côte d'Azur (UCA), Jonchère, Laurent, Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), 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), Centre Ressources et Compétences sclérose en plaques (CRC-SEP) [CHU Toulouse] (CRC-SEP Toulouse), Département Neurologie [CHU Toulouse], Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Unité de Recherche Clinique de la Côte d’Azur (URRIS UR2CA), and Centre Hospitalier Universitaire de Nice (CHU Nice)-Université Côte d'Azur (UCA)
Subjects: Multiple sclerosis, [SDV] Life Sciences [q-bio], Neurology, breastfeeding, [SDV]Life Sciences [q-bio], Neurology (clinical), disease-modifying treatments, pregnancy, reproductive assistance
Abstract: Objective: The objective of this study was to develop evidence-based recommendations on pregnancy management for persons with multiple sclerosis (MS). Background: MS typically affects young women in their childbearing years. Increasing evidence is available to inform questions raised by MS patients and health professionals about pregnancy issues. Methods: The French Group for Recommendations in Multiple Sclerosis (France4MS) reviewed PubMed and university databases (January 1975 through June 2021). The RAND/UCLA appropriateness method was developed to synthesise the scientific literature and expert opinions on healthcare topics; it was used to reach a formal agreement. Fifty-six MS experts worked on the full-text review and initial wording of recommendations. A group of 62 multidisciplinary healthcare specialists validated the final proposal of summarised evidence. Results: A strong agreement was reached for all 104 proposed recommendations. They cover diverse topics, such as pregnancy planning, follow-up during pregnancy and postpartum, delivery routes, locoregional analgesia or anaesthesia, prevention of postpartum relapses, breastfeeding, vaccinations, reproductive assistance, management of relapses and disease-modifying treatments. Conclusion: The 2022 recommendations of the French MS society should be helpful to harmonise counselling and treatment practice for pregnancy in persons with MS, allowing for better and individualised choices.
Published: 2023
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7. Cerebral Vasoreactivity as an Indirect MRI Marker of White Matter Tracts Alterations in Multiple Sclerosis

Author: Xavier Ayrignac, Aude Metzger, Alexandre Krainik, Pierre Labauge, Clarisse Carra-Dalliere, Nicolas Menjot de Champfleur, Emmanuelle Le Bars, Arthur Coget, and Jeremy Deverdun
Subjects: medicine.medical_specialty, Multiple Sclerosis, Corpus callosum, 050105 experimental psychology, Corpus Callosum, White matter, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, Cerebral perfusion pressure, Prefrontal cortex, Radiological and Ultrasound Technology, business.industry, Multiple sclerosis, 05 social sciences, Precentral gyrus, medicine.disease, Magnetic Resonance Imaging, White Matter, Hyperintensity, medicine.anatomical_structure, Neurology, Superior frontal gyrus, Cardiology, Neurology (clinical), Anatomy, business, Biomarkers, 030217 neurology & neurosurgery
Abstract: Patients with multiple sclerosis (MS) show a diffuse cerebral perfusion decrease, presumably related to multiple metabolism and vascular alterations. It is assumed that white matter fiber alterations cause a localized cerebral vasoreactivity (CVR) disruption through astrocytes metabolism alteration, leading to hypoperfusion. We proposed to (1) evaluate the CVR disruptions in MS, (2) in relation to white matter lesions and (3) compare CVR disruptions maps with standard imaging biomarkers. Thirty-five MS patients (10 progressive, 25 relapsing–remitting) and 22 controls underwent MRI with hypercapnic challenge, DTI imaging and neuropsychological assessment. Areas with disrupted CVR were assessed using a general linear model. Resulting maps were associated with clinical scores, compared between groups, and related to DTI metrics and white matter lesions. MS patients showed stronger disrupted CVR within supratentorial white matter, linking the left anterior insula to both the precentral gyrus and the right middle and superior frontal gyrus through the corpus callosum (P
Published: 2021
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8. Serum GFAP in multiple sclerosis: correlation with disease type and MRI markers of disease severity

Author: Claire Duflos, Jeremy Deverdun, Frédéric Pinna, Tobias Kober, Clarisse Carra-Dalliere, Bénédicte Maréchal, Ricardo Corredor Jerez, Christophe Hirtz, Pauline Prin, Xavier Ayrignac, Nicolas Menjot de Champfleur, Sylvain Lehmann, Mahmoud Charif, Mário João Fartaria, Pierre Labauge, Aleksandra Maleska Maceski, Emmanuelle Le Bars, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Département de Neuroradiologie[Montpellier], Institut d’Imagerie Fonctionnelle Humaine [CHU Montpellier] (I2FH), Laboratoire Charles Coulomb (L2C), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Université de Lausanne = University of Lausanne (UNIL), Ecole Polytechnique Fédérale de Lausanne (EPFL), Bodescot, Myriam, CRC Sclérose en Plaques [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Economic Evaluation Unit [Montpellier], Laboratoire de Biochimie – Protéomique Clinique [Montpellier] (LBPC), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Siemens Healthcare [Lausanne, Suisse], and Université de Lausanne (UNIL)
Subjects: Male, 0301 basic medicine, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Neuroimmunology, lcsh:Medicine, Disease, Severity of Illness Index, Gastroenterology, 0302 clinical medicine, Cerebrospinal fluid, Neurofilament Proteins, Medicine, lcsh:Science, [SDV.BBM.BC] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Multidisciplinary, medicine.diagnostic_test, Brain, Middle Aged, Multiple Sclerosis, Chronic Progressive, Magnetic Resonance Imaging, White Matter, biomarker, Biomarker (medicine), Female, damage, Adult, medicine.medical_specialty, Neurofilament, Context (language use), neurofilament, Article, Multiple sclerosis, 03 medical and health sciences, Multiple Sclerosis, Relapsing-Remitting, Internal medicine, Glial Fibrillary Acidic Protein, Severity of illness, Humans, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], business.industry, lcsh:R, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Magnetic resonance imaging, medicine.disease, cerebrospinal-fluid, Cross-Sectional Studies, 030104 developmental biology, neuronal markers, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, lcsh:Q, business, 030217 neurology & neurosurgery
Abstract: Neurofilament light chain (NfL) has been demonstrated to correlate with multiple sclerosis disease severity as well as treatment response. Nevertheless, additional serum biomarkers are still needed to better differentiate disease activity from disease progression. The aim of our study was to assess serum glial fibrillary acid protein (s-GFAP) and neurofilament light chain (s-NfL) in a cohort of 129 multiple sclerosis (MS) patients. Eighteen primary progressive multiple sclerosis (PPMS) and 111 relapsing remitting MS (RRMS) were included. We showed that these 2 biomarkers were significantly correlated with each other (R = 0.72, p p = 0.008). Finally, s-GFAP was correlated with white matter lesion load and inversely correlated with WM and GM volume. Our results seem to confirm the added value of s-GFAP in the context of multiple sclerosis.
Published: 2020
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9. Multiple sclerosis lesions in motor tracts from brain to cervical cord: spatial distribution and correlation with disability

Author: Bertrand Audoin, Tobias Granberg, Yasuhiko Tachibana, Massimo Filippi, Charley Gros, Xavier Ayrignac, Masaaki Hori, Francesca Galassi, Gilles Edan, Julien Cohen-Adad, Govind Nair, Nicolas Collongues, Lydia Chougar, Anne Kerbrat, Jennifer Lefeuvre, Leszek Stawiarz, Renxin Chu, Daniel S. Reich, Rohit Bakshi, Russell Ouellette, Adil Maarouf, Clarisse Carra-Dalliere, Jean Pelletier, Jan Hillert, Jérôme De Seze, Benoît Combès, Atef Badji, Pierre Labauge, Elise Bannier, Paola Valsasina, Maria A. Rocca, Jason F. Talbott, Kouhei Kamiya, Josefina Maranzano, Raphaël Chouteau, Virginie Callot, École Polytechnique de Montréal (EPM), Unité de Neuroimagerie Fonctionnelle [Montréal] (UNF-CRIUGM), Université de Montréal (UdeM)-Centre de Recherche de l'Institut Universitaire de Gériatrie de Montréal (CRIUGM), Empenn, 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-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-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 Rennes (UNIV-RENNES)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Université de Rennes (UNIV-RENNES)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes (UNIV-RENNES)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Rennes (ENS Rennes)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Université de Rennes (UNIV-RENNES), Département de Radiologie [CHU de Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service de Neurologie [CHU Rennes], CHU Pontchaillou [Rennes], Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], Université du Québec à Trois-Rivières (UQTR), Department of Clinical Neuroscience [Sotckholm], Karolinska Institutet [Stockholm], Department of Radiology and Biomedical Imaging [San Francisco], University of California [San Francisco] (UCSF), University of California-University of California, National Institute of Radiological Sciences (NIRS), Toho University Omori Medical Center [Tokyo], Service de Neuroradiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, National Institutes of Health [Bethesda] (NIH), Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR), Centro San Giovanni di Dio, Fatebenefratelli, Brescia (IRCCS), Università degli Studi di Brescia [Brescia], Brigham & Women’s Hospital [Boston] (BWH), Harvard Medical School [Boston] (HMS), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - AP-HM] (CEMEREM), 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)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Timone [CHU - APHM] (TIMONE), Biopathologie de la Myéline, Neuroprotection et Stratégies Thérapeutiques (BMNST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Strasbourg (UNISTRA), 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], Fondation pour l'Aide à la Recherche sur la Sclérose en Plaques, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Vetenskapsrådet, Hjärnfonden, Doctoral TransMedTech, French Hospital Program of Clinical Research, PHRC, Université de Bretagne Sud (UBS)-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 Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), 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), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Strasbourg (UNISTRA)-Hôpital de Hautepierre [Strasbourg]-Nouvel Hôpital Civil de Strasbourg, 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), 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)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-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)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Neuroimagerie: méthodes et applications (Empenn), 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)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-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)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Université de Rennes (UR), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), University of California [San Francisco] (UC San Francisco), University of California (UC)-University of California (UC), Università degli Studi di Brescia = University of Brescia (UniBs), Hôpital de la Timone [CHU - APHM] (TIMONE)-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)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Jonchère, Laurent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM] (CEMEREM), Kerbrat, A., Gros, C., Badji, A., Bannier, E., Galassi, F., Combes, B., Chouteau, R., Labauge, P., Ayrignac, X., Carra-Dalliere, C., Maranzano, J., Granberg, T., Ouellette, R., Stawiarz, L., Hillert, J., Talbott, J., Tachibana, Y., Hori, M., Kamiya, K., Chougar, L., Lefeuvre, J., Reich, D. S., Nair, G., Valsasina, P., Rocca, M. A., Filippi, M., Chu, R., Bakshi, R., Callot, V., Pelletier, J., Audoin, B., Maarouf, A., Collongues, N., De Seze, J., Edan, G., and Cohen-Adad, J.
Subjects: Adult, Male, corticospinal tract, Pathology, medicine.medical_specialty, Cord, Pyramidal Tracts, multiple sclerosis, 030218 nuclear medicine & medical imaging, Lesion, Disability Evaluation, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], 10. No inequality, Retrospective Studies, [SDV.IB] Life Sciences [q-bio]/Bioengineering, Clinically isolated syndrome, Expanded Disability Status Scale, business.industry, Multiple sclerosis, Brain, Cervical Cord, Original Articles, Middle Aged, Spinal cord, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, disability, Corticospinal tract, Disease Progression, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, [SDV.IB]Life Sciences [q-bio]/Bioengineering, Neurology (clinical), Brainstem, medicine.symptom, business, 030217 neurology & neurosurgery, MRI
Abstract: Despite important efforts to solve the clinico-radiological paradox, correlation between lesion load and physical disability in patients with multiple sclerosis remains modest. One hypothesis could be that lesion location in corticospinal tracts plays a key role in explaining motor impairment. In this study, we describe the distribution of lesions along the corticospinal tracts from the cortex to the cervical spinal cord in patients with various disease phenotypes and disability status. We also assess the link between lesion load and location within corticospinal tracts, and disability at baseline and 2-year follow-up. We retrospectively included 290 patients (22 clinically isolated syndrome, 198 relapsing remitting, 39 secondary progressive, 31 primary progressive multiple sclerosis) from eight sites. Lesions were segmented on both brain (T2-FLAIR or T2-weighted) and cervical (axial T2- or T2*-weighted) MRI scans. Data were processed using an automated and publicly available pipeline. Brain, brainstem and spinal cord portions of the corticospinal tracts were identified using probabilistic atlases to measure the lesion volume fraction. Lesion frequency maps were produced for each phenotype and disability scores assessed with Expanded Disability Status Scale score and pyramidal functional system score. Results show that lesions were not homogeneously distributed along the corticospinal tracts, with the highest lesion frequency in the corona radiata and between C2 and C4 vertebral levels. The lesion volume fraction in the corticospinal tracts was higher in secondary and primary progressive patients (mean = 3.6 ± 2.7% and 2.9 ± 2.4%), compared to relapsing-remitting patients (1.6 ± 2.1%, both P
Published: 2020
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10. Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria

Author: Nicolas Menjot de Champfleur, Serge Lumbroso, Serge Belliard, Françoise Durand-Dubief, Odile Boespflug-Tanguy, Frédérique Etcharry-Bouyx, Xavier Ayrignac, Emmanuel Ellie, Imen Dorboz, Cecilia Marelli, Isabelle Le Ber, F. Mochel, Guillaume Mathey, B. Stankoff, Florence Portet, Pekes Codjia, Kevin Mouzat, Séverine Drunat, Giovanni Castelnovo, Pierre Labauge, and Clarisse Carra-Dalliere
Subjects: Adult, Pathology, medicine.medical_specialty, White matter, Leukoencephalopathy, Leukoencephalopathies, Receptors, Colony-Stimulating Factor, medicine, Humans, In patient, Exome sequencing, Axonal spheroids, medicine.diagnostic_test, business.industry, Leukodystrophy, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, White Matter, medicine.anatomical_structure, Neurology, Cohort, Mutation, Neurology (clinical), business, Neuroglia
Abstract: Background and purpose Diagnostic criteria for adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to colony-stimulating factor 1 receptor (CSF1R) mutation have recently been proposed. Our objective was to assess their accuracy in an independent multicenter cohort. Methods We evaluated the sensitivity and specificity of the diagnostic criteria for ALSP (including the "probable" and "possible" definitions) in a national cohort of 22 patients with CSF1R mutation, and 59 patients with an alternative diagnosis of adult onset inherited leukoencephalopathy. Results Overall, the sensitivity of the diagnostic criteria for ALSP was 82%, including nine of 22 patients diagnosed as probable and nine of 22 diagnosed as possible. Twenty of the 59 CSF1R mutation-negative leukoencephalopathies fulfilled the diagnostic criteria, leading to a specificity of 66%. Conclusions Diagnostic criteria for ALSP have an overall limited sensitivity along with a modest specificity. We suggest that in patients suspected of genetic leukoencephalopathy, a comprehensive magnetic resonance imaging pattern-based approach is warranted, together with white matter gene panel or whole exome sequencing.
Published: 2021

11. 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
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12. Pathologic and MRI analysis in acute atypical inflammatory demyelinating lesions

Author: Thierry Vincent, A.-M. Guennoc, Pierre Labauge, Anne Kerbrat, François Cotton, Stéphane Kremer, Béatrice Carsin-Nicol, Mahmoud Charif, Sandra Vukusic, Thibaut Allou, Jérôme De Seze, Aurélie Ruet, Laurent Magy, Nicolas Menjot de Champfleur, Clarisse Carra-Dalliere, Guido Ahle, Eric Thouvenot, Françoise Durand-Dubief, Hélène Oesterle, Valérie Rigau, Denis Sablot, Romain Marignier, Nicolas Collongues, Gilles Edan, Mikael Cohen, Sonia Hebbadj, Benoit Lhermitte, Frederic Taithe, M. P. Boncoeur-Martel, Xavier Ayrignac, Grelier, Elisabeth, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service d'Anatomie Pathologique Générale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Département d’Immunologie, Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, Service de radiologie [Strasbourg], Service de Neurologie [Hôpitaux Civils de Colmar], Hôpitaux Civils Colmar, Hôpitaux Civils de Colmar, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), RMN et optique : De la mesure au biomarqueur, 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)-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), Pierre Wertheimer, Département de Neurologie, Service de Neurologie [Lyon], CHU Lyon, Service de Neurologie [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Hôpital Pasteur [Nice] (CHU), Service de Neurologie [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Service de Neurologie [Rennes] = Neurology [Rennes], CHU Pontchaillou [Rennes], Service de neurologie [Rennes], Université de Rennes (UR), Service de neurochirurgie [Rennes] = Neurosurgery [Rennes], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Service de Neurologie [CHU Nimes] (Pôle NIRR), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)-Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), 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), Service de Neurologie [CHU Limoges], CHU Limoges, Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Service de Radiologie et Imagerie Médicale [CHU Limoges], Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-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), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), 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), 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), and 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)
Subjects: Adult, Male, Atypical inflammatory demyelinating syndrome, medicine.medical_specialty, Pathology, Multiple Sclerosis, Histopathology, Context (language use), Immunopathology, Cohort Studies, Lesion, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Pathological, Aged, Retrospective Studies, Neuroradiology, Aquaporin 4, medicine.diagnostic_test, business.industry, Multiple sclerosis, Brain biopsy, Neuromyelitis Optica, food and beverages, Magnetic resonance imaging, Middle Aged, medicine.disease, Atypical demyelinating lesions, Magnetic Resonance Imaging, 3. Good health, Neurology, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Acute Disease, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Female, Neurology (clinical), medicine.symptom, business, Aquaporin-4, 030217 neurology & neurosurgery, Demyelinating Diseases
Abstract: The diagnosis of atypical inflammatory demyelinating lesions can be difficult. Brain biopsy is often required to exclude neoplasms. Moreover, the relationship between these lesions and multiple sclerosis and NMOSD is not clear. Our objectives were to describe radiological and pathological characteristics of patients with acute inflammatory demyelinating lesions. We retrospectively identified patients with brain biopsy performed for diagnostic uncertainty revealing a demyelinating lesion. A complete clinical, biological, radiological and pathological analysis was performed. Twenty patients (15 with a single lesion) were included. MRI disclosed a wide range of lesions including infiltrative lesions (40%), ring-like lesion (15%) Balo-like lesion (15%) and acute haemorrhagic leukoencephalitis (20%). In spite of a marked heterogeneity, some findings were common: a peripheral B1000 hyperintense rim (70%), a slight oedema with mild mass effect (75%) and an open-rim peripheral enhancement (75%). Histopathology revealed that all cases featured macrophages distributed throughout, extensive demyelination, axonal preservation and absence of haemorrhagic changes. In the majority of cases, macrophages were the predominant inflammatory infiltrate and astrocytes were reactive and dystrophic. Aquaporin-4 staining was systematically preserved. After a mean follow-up of 5 years (1–12), 16/20 patients had a diagnosis of monophasic acute atypical inflammatory demyelinating lesion. One patient was diagnosed with MS and 3 with AQP4 negative NMOSD. Although imaging findings in patients with atypical inflammatory demyelinating lesions are heterogeneous, some common features such as peripheral DWI hyperintense rim with open-rim enhancement and absence of oedema argue in favour of a demyelinating lesion and should preclude a brain biopsy. In this context, AQP4 staining is systematically preserved and argues against an AQP4-positive NMOSD. Moreover, long-term follow-up is characterized by low recurrence rate.
Published: 2019
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13. POLR3-related disorder revealed by movement disorders

Author: Clarisse Carra-Dalliere, Xavier Ayrignac, Pauline Prin, Victoria Gonzalez, Marion Tailland, Pierre Labauge, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Université de Montpellier (UM)
Subjects: Pediatrics, medicine.medical_specialty, Movement disorders, MEDLINE, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, medicine, Humans, ComputingMilieux_MISCELLANEOUS, Hereditary leukoencephalopathy, 030304 developmental biology, 0303 health sciences, Movement Disorders, business.industry, Leukodystrophy, medicine.disease, Hereditary Central Nervous System Demyelinating Diseases, POLR3-related disorders, Neurology, Mutation, Related disorder, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience
Published: 2021
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14. High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Author: Sylvain Vergnet, Jean Phillipe Azulay, Isabelle Meunier, Audrey Riquet, Olivier Patat, Anna Castrioto, Laurent Pasquier, Cyril Charlin, Lena Damaj, Cécile Acquaviva, Nicolas Lebouc, Bérénice Doray, Cecilia Marelli, Morgane Pointaux, Pierre Meyer, Perrine Charles, Danielle Cuntz-Shadfar, Caroline Tillikete, Frederic Villega, Cathy Lieutard-Haag, Michel Koenig, François Rivier, Idriss Bousquet, Ganaëlle Remerand, Ulrike Walther-Louvier, Clarisse Carra-Dalliere, Victoria Gonzales, Alexandre Eusebio, Brigitte Chabrol, Emilie Carme, Pierre Labauge, Adrian Degardin, Elise Brischoux-Boucher, Brice Laurens, Laurent Kremer, Giovanni Castelnovo, Mélanie Fradin, Mehdi Benkirane, Karine Nguyen, Jean-Marie Ravel, Vincent Laugel, Emilien Bernard, Claire Guissart, Cyril Goizet, Samira Sissaoui, Agathe Roubertie, Christine Francannet, Sylvie Odent, Yosra Halleb, Xavier Ayrignac, Shahram Attarian, Fabienne Ory Magne, David Geneviève, Joel Victor Fluss, Alain Verloes, Anne Rolland, Martial Mallaret, Lydia Abou Haidar, Nadia Bahi-Buisson, David Baux, Catherine Sarret, Nicolas Carrière, Christine Coubes, Mathilde Renaud, Claire Ewenczyk, Patrick Calvas, Solène Frismand, Leila Lazaro, Bertrand Isidor, Annabelle Chaussenot, Sophie Julia, Valerie Fraix, Elsa Kaphan, Tatiana Witjas, Frédérique Fluchère, Mathieu Anheim, Christine Tranchant, William Camu, Eric Thouvenot, Lise Larrieu, Eric Bieth, Ariane Choumert, Raoul Morales, Marinha Costa Moreira, Elizabeth Ollagnon, Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Mécanismes moléculaires dans les démences neurodégénératives (MMDN), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Hospices Civils de Lyon (HCL), Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), CHU Clermont-Ferrand, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Bordeaux [Bordeaux], Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire [Grenoble] (CHU), CHU Strasbourg, CHU Pontchaillou [Rennes], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Centre Hospitalier Universitaire de Nice (CHU Nice), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut de Génomique Fonctionnelle (IGF), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Interdisciplinary Institute for Neuroscience [Bordeaux] (IINS), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Geneva University Hospitals and Geneva University, Hôpital Robert Debré, and Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)
Subjects: medicine.medical_specialty, Ataxia, Cerebellar Ataxia, DNA Copy Number Variations, [SDV]Life Sciences [q-bio], Receptors, Cytoplasmic and Nuclear, Genomics, Biology, PEX10, Cohort Studies, Peroxins, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Genetics, Translation reinitiation, 0303 health sciences, Molecular pathology, 030305 genetics & heredity, Phenotype, Human genetics, United States, 3. Good health, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Medical genetics, medicine.symptom, 030217 neurology & neurosurgery
Abstract: International audience; Purpose: Diagnosis of inherited ataxia and related diseases represents a real challenge given the tremendous heterogeneity and clinical overlap of the various causes. We evaluated the efficacy of molecular diagnosis of these diseases by sequencing a large cohort of undiagnosed families.Methods: We analyzed 366 unrelated consecutive patients with undiagnosed ataxia or related disorders by clinical exome-capture sequencing. In silico analysis was performed with an in-house pipeline that combines variant ranking and copy-number variant (CNV) searches. Variants were interpreted according to American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines.Results: We established the molecular diagnosis in 46% of the cases. We identified 35 mildly affected patients with causative variants in genes that are classically associated with severe presentations. These cases were explained by the occurrence of hypomorphic variants, but also rarely suspected mechanisms such as C-terminal truncations and translation reinitiation.Conclusion: A significant fraction of the clinical heterogeneity and phenotypic overlap is explained by hypomorphic variants that are difficult to identify and not readily predicted. The hypomorphic C-terminal truncation and translation reinitiation mechanisms that we identified may only apply to few genes, as it relies on specific domain organization and alterations. We identified PEX10 and FASTKD2 as candidates for translation reinitiation accounting for mild disease presentation.
Published: 2021
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15. Pregnancy in MNGIE: a clinical and metabolic honeymoon

Author: Agathe Roubertie, Pierre Meyer, Romain Altwegg, Arnold Munnich, Laetitia Begue, Michele Levene, François Rivier, Nicolas Flori, Jean-François Benoist, Pauline Pappalardo, A. Rolland, Bridget E. Bax, Clarisse Carra-Dalliere, Catherine Blanchet, Cecilia Marelli, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de biochimie métabolique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), St George's, University of London, Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Mécanismes moléculaires dans les démences neurodégénératives (MMDN), Université de Montpellier (UM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Département de pédiatrie [CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Institut du Cancer de Montpellier (ICM), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), 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), MORNET, Dominique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-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)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), and Institut des Neurosciences de Montpellier (INM)
Subjects: 0301 basic medicine, Gi symptoms, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Gastroenterology, 03 medical and health sciences, Deoxyribonucleotide, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Replacement - action, Medicine, Thymidine phosphorylase, ComputingMilieux_MISCELLANEOUS, chemistry.chemical_classification, Pregnancy, Case Study, business.industry, General Neuroscience, medicine.disease, 3. Good health, Single patient, [SDV] Life Sciences [q-bio], 030104 developmental biology, Enzyme, chemistry, Neurology (clinical), Inherited disease, business, 030217 neurology & neurosurgery
Abstract: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an inherited disease caused by a deficiency in thymidine phosphorylase and characterized by elevated systemic deoxyribonucleotides and gastrointestinal (GI) and neurological manifestations. We report the clinical and biochemical manifestations that were evaluated in a single patient before, during, and after pregnancy, over a period of 7 years. GI symptoms significantly improved, and plasma deoxyribonucleotide concentrations decreased during pregnancy. Within days after delivery, the patient’s digestive symptoms recurred, coinciding with a rapid increase in plasma deoxyribonucleotide concentrations. We hypothesize that the clinico‐metabolic improvements could be attributed to the enzyme replacement action of the placental thymidine phosphorylase.
Published: 2020
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16. Échanges plasmatiques et atteintes inflammatoires centrales

Author: Clarisse Carra-Dalliere, Ophélie Forster, Mahmoud Charif, Pierre Labauge, Tarik Kanouni, Xavier Ayrignac, Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Université de Montpellier (UM)
Subjects: Neurology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 3. Good health
Abstract: Introduction Les plasmaphereses sont un traitement de choix dans les atteintes inflammatoires du systeme nerveux central resistantes a la corticotherapie. Objectifs Evaluer les facteurs pronostiques de reponse au traitement par plasmaphereses dans les atteintes inflammatoires du systeme nerveux central. Patients et methodes Nous avons inclus de maniere retrospective tous les patients ayant beneficie de plasmaphereses pour une atteinte inflammatoire du systeme nerveux central sur une periode de 8 ans (de janvier 2011 a janvier 2019), au CHU de Montpellier. Nous avons analyse pour chaque patient les donnees cliniques, les caracteristiques du liquide cephalorachidien, les caracteristiques radiologiques, le diagnostic etiologique retenu, le traitement initial, le delai d’introduction et la duree des plasmaphereses. La reponse clinique a ete evaluee a 1 mois et 6 mois. Les patients etaient classes “repondeurs” au traitement lorsque l’EDSS etait ameliore d’au moins 50 % a 6 mois ou lorsque l’acuite visuelle etait amelioree d’au moins 2 points a 6 mois s’il s’agissait d’une NORB. Ils etaient classes “non repondeurs” s’ils ne satisfaisaient pas a ces criteres. Resultats Trente six patients ont ete inclus dont 15 myelites, 16 NORB, et 5 encephalites/encephalomyetites. Les donnees a 6 mois etaient disponibles pour 30 patients. Les patients repondeurs au traitement a 6 mois (n = 16) avaient beneficie plus precocement de plasmaphereses. Ils avaient plus frequemment des bandes oligoclonales et une reaction lymphocytaire a l’analyse du LCR. Les patients dont la presentation etait medullaire avaient plus frequemment un tableau de myelite segmentaire. Discussion L’initiation precoce du traitement par plasmaphereses apparait comme un facteur predictif majeur de reponse clinique. Nos resultats rejoignent en ce sens les precedentes etudes sur le sujet. Conclusion Les plasmaphereses en association avec la corticotherapie doivent etre envisagees precocement dans atteintes inflammatoires severes du systeme nerveux central.
Published: 2020
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17. Microangiopathie cérébrale: du diagnostic à la prise en charge small vessel disease of the brain: Diagnosis and management

Author: Clarisse Carra-Dalliere, Xavier Ayrignac, Pierre Labauge, Nicolas Gaillard, Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), and Université de Montpellier (UM)
Subjects: medicine.medical_specialty, Disease, Small vessel disease of the brain, Diagnostic différentiel, MESH: Stroke, MESH: Cognitive Dysfunction, MESH: Magnetic Resonance Imaging, White matter, 03 medical and health sciences, MESH: Brain, 0302 clinical medicine, Internal medicine, Diagnosis, Internal Medicine, medicine, Dementia, MESH: Cerebral Small Vessel Diseases, 030212 general & internal medicine, Diagnostic, Perivascular space, Traitement, MESH: Humans, business.industry, Microangiopathy, Gastroenterology, medicine.disease, Hyperintensity, Microangiopathie cérébrale, 3. Good health, Treatment, medicine.anatomical_structure, Cardiology, Differential diagnosis, Cerebral amyloid angiopathy, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; Small vessel disease of the brain is commonly identified among ageing people. It causes almost 25% of strokes and is associated with cognitive impairment and dementia as well as gait difficulties. Its diagnosis is usually made on MRI in the presence of deep white matter and basal ganglia hyperintensities as well as deep lacunar infarcts (lacunes), microbleeds and enlarged perivascular spaces. MRI is also of importance to identify the main differential diagnoses including inflammatory disorders, cerebral amyloid angiopathy and other genetic causes of microangiopathy. Small vessel disease is associated with the main vascular risk factors including notably age and hypertension but whether controlling these vascular risk factors is beneficial is still not clear. Here, we provide a comprehensive review underlining the main diagnostic features of cerebral microangiopathy and summarise the main therapeutic approaches (notably blood pressure normalisation and physical activity) used to control its development and prevent strokes as well as the development of cognitive involvement and gait impairment.
Published: 2020
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18. Atypical myelitis in patients with multiple sclerosis: Characterization and comparison with typical multiple sclerosis and neuromyelitis optica spectrum disorders

Author: Clarisse Carra-Dalliere, Christine Lebrun, Nicolas Collongues, Alain Créange, J. de Seze, Philippe Kerschen, Kévin Bigaut, Alexis Montcuquet, Jonathan Ciron, C Lambert, L. Kremer, Mikael Cohen, Xavier Ayrignac, Pierre Labauge, and Bertrand Bourre
Subjects: Adult, Pathology, medicine.medical_specialty, Multiple Sclerosis, Myelitis, Myelitis, Transverse, Transverse myelitis, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, In patient, 030212 general & internal medicine, Aquaporin 4, business.industry, Multiple sclerosis, Neuromyelitis Optica, medicine.disease, Magnetic Resonance Imaging, Neurology, Neuromyelitis Optica Spectrum Disorders, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: Background: Atypical myelitis in multiple sclerosis (MS) is characterized by extensive myelitis in the longitudinal (longitudinally extensive transverse myelitis) or axial plane (transverse myelitis). Objective: To characterize a cohort of MS patients with atypical myelitis. Methods: Atypical myelitis was extracted from the French and Luxembourg MS databases and compared to two cohorts of MS patients with typical myelitis and neuromyelitis optica spectrum disorders (NMOSDs) patients with myelitis. Results: We enrolled 28 MS patients with atypical myelitis, 68 MS patients with typical myelitis and 119 NMOSD patients with a first episode of myelitis. MS patients with atypical myelitis were characterized by a mean age of 34.0 (±10.7) years and 64.3% were women. In 82.1% of the patients, atypical myelitis was the first episode of MS. Mean Expanded Disability Status Scale (EDSS) scores at nadir and 3–6 months after onset were 4.1 ± 2.1 and 3.3 ± 2, respectively. Differences between groups revealed a predominance of cervicothoracic myelitis and a higher level of disability in NMOSD patients. Disability in MS patients with atypical myelitis was more severe than in the MS patients with typical myelitis; 28% had already converted to progressive MS within our mean follow-up of 39.6 (±30.4) months. Conclusion: Atypical myelitis may be the first presentation of MS and is associated with poorer prognosis.
Published: 2020

19. Comment je raisonne devant une leucoencéphalopathie chronique de l’adulte ?

Author: X. Ayrignac, Clarisse Carra-Dalliere, and Pierre Labauge
Subjects: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology (clinical), 030217 neurology & neurosurgery
Abstract: Resume La decouverte d’une leucoencephalopathie est une situation clinique frequente. Chez l’adulte, les causes acquises sont les plus frequentes. Neanmoins, le caractere d’emblee symetrique de la leucoencephalopathie, des la premiere IRM cerebrale, evoque une cause hereditaire. Dans cet article, nous proposons un algorithme diagnostique des leucoencephalopathies de l’adulte de mecanisme suppose hereditaire.
Published: 2017
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20. Diagnostic and therapeutic issues of inflammatory diseases of the elderly

Author: Clarisse Carra-Dalliere, Pierre Labauge, Xavier Ayrignac, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Université de Montpellier (UM)
Subjects: Central Nervous System, medicine.medical_specialty, Aging, Multiple Sclerosis, [SDV]Life Sciences [q-bio], Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Immune system, medicine, Humans, In patient, 030212 general & internal medicine, Medical diagnosis, Medical prescription, Intensive care medicine, Aged, business.industry, Multiple sclerosis, Incidence (epidemiology), Neuromyelitis Optica, Immunosenescence, medicine.disease, 3. Good health, Neurology, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery, Immunosuppressive Agents
Abstract: Inflammatory diseases of the central nervous system (CNS) mainly occur during early adulthood and multiple sclerosis (MS) represents the overwhelming majority of these disorders. Nevertheless, MS only rarely begins after 50 years and a diagnosis of late-onset MS should only be done when clinical as well as radiological and biological findings are typical of MS since the probability of misdiagnosis is higher in elderly patients. Indeed, in patients aged over 50 years, along with a relative decrease of MS incidence, other inflammatory diseases of the CNS but also differential diagnoses including neoplastic as well as infectious disorders should be thoroughly searched to avoid diagnostic mistakes and the prescription of inadequate and potentially harmful immunomodulatory/immunosuppressive therapies. Moreover, aging is associated with diverse immune changes also known as immunosenescence resulting in, notably, higher risk of comorbidities (including vascular diseases) and infections which need to be considered when planning medical treatments of elderly patients with inflammatory diseases of the CNS. Herein, therapeutic and diagnostic challenges faced by neurologists are reviewed to ease patient management.
Published: 2020
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21. 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
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22. First clinical inflammatory demyelinating events of the central nervous system in a population aged over 70 years: A multicentre study

Author: Jean-Philippe Camdessanché, Mahmoud Charif, Pierre Clavelou, David Brassat, Mickael Bonnan, Gilles Edan, Aurore Naudin, Noëlle Lavandier, Pierre Labauge, on behalf Société Francophone de la Sclérose en Plaques, Clarisse Carra-Dalliere, Jonathan Ciron, Cécile Dulau, Amandine Moroso, Jean-Christophe Ouallet, Bruno Brochet, CHU Bordeaux [Bordeaux], Cabinet de Neurologie, CHU Pau, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Service de neurologie [CHU de Saint-Étienne], Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Service de neurologie [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Pôle neurosciences [Hôpital de Purpan - Toulouse], CHU Toulouse [Toulouse], Centre hospitalier universitaire de Poitiers (CHU Poitiers), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, CHU de Bordeaux Pellegrin [Bordeaux], Service de neurologie [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, 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), Service de Neurologie [CHU de Saint-Étienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM), Université de Rennes (UR), Pôle Neurosciences [CHU Toulouse], and Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)
Subjects: Male, Pediatrics, medicine.medical_specialty, Population, Transverse myelitis, Myelitis, Optic neuritis, Multiple sclerosis, 03 medical and health sciences, 0302 clinical medicine, Central Nervous System Diseases, medicine, Humans, 030212 general & internal medicine, Age of Onset, education, MESH: Central Nervous System Diseases / epidemiology, Demyelinating Diseases / epidemiology, Brain / diagnostic imaging, Aged, Retrospective Studies, Aged, 80 and over, Inflammation, education.field_of_study, Lupus erythematosus, Neuromyelitis optica, business.industry, Brain, General Medicine, medicine.disease, Late onset, Ageing, Neurology, Spinal Cord, Etiology, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), business, 030217 neurology & neurosurgery, Demyelinating Diseases, Follow-Up Studies
Abstract: Background Few data are available regarding patients with very late-onset inflammatory demyelinating events. (VLO-IDE). Objectives The aim of this study was to describe the clinical, biological, and radiological characteristics and aetiological diagnosis of very late first inflammatory demyelinating events of the central nervous system. Methods We conducted a national descriptive retrospective multicentre study on a case series of patients aged >70 years at the time of VLO-IDE. Patients were recruited from a national call on behalf of the 'Societe Francophone de la Sclerose en Plaques' (French Multiple Sclerosis Society). Results Twenty-five patients were referred (F:M sex ratio 2.1:1). The most frequent clinical impairment was a spinal cord deficit (23/25), usually severe (disability score, median EDSS 4.5 [2–9.5]). Spinal cord lesions were usually extensive, spanning at least three segments (11/25), and large brain lesions were also observed (lesions >20 mm in 6/25). The final aetiological diagnoses comprised multiple sclerosis (9/25), neuromyelitis optica spectrum disorders (7/25), neurosystemic lupus erythematosus (2/25), transverse myelitis without aetiological diagnosis (6/25) and optic neuritis (1/25). Conclusions This study highlights a particular phenotype of first clinical inflammatory demyelinating events in predominantly female patients aged >70 years who have severe motor impairment with common longitudinal extensive myelitis and large and common very active radiological inflammatory lesions. Neuromyelitis optica spectrum disorders seem overrepresented.
Published: 2019
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23. Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

Author: Claire Guissart, Eugénie Mutez, Clarisse Carra-Dalliere, Mathieu Anheim, Danielle Cuntz-Shadfar, Adrian Degardin, Jean-Philippe Villemin, Sabrina Sacconi, Jean-Philippe Azulay, Christine Tranchant, Nicolas Pageot, Michel Koenig, Victoria Gonzalez, Xavier Ayrignac, Cécile Hubsch, Christian Geny, Claude Mignard, Dominique Chretien, Elisabeth Ollagnon, Cecilia Marelli, Cyril Goizet, Raul Juntas Morales, Bertrand Carlander, Lise Larrieu, Laurine Perrin, Mireille Claustres, Ouhaid Lagha-Boukbiza, Patrick Calvas, Anelia Benarrosh, Mathilde Renaud, Souhayla Azakri, Pierre Labauge, Patrick Collignon, and Perrine Charles
Subjects: 0301 basic medicine, Genetics, Ataxia, Cerebellar ataxia, Biology, Genetic analysis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, Copy-number variation, medicine.symptom, Repeated sequence, Trinucleotide repeat expansion, Exome, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing
Abstract: Next-generation sequencing (NGS) has an established diagnostic value for inherited ataxia. However, the need of a rigorous process of analysis and validation remains challenging. Moreover, copy number variations (CNV) or dynamic expansions of repeated sequence are classically considered not adequately detected by exome sequencing technique. We applied a strategy of mini-exome coupled to read-depth based CNV analysis to a series of 33 patients with probable inherited ataxia and onset
Published: 2016
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24. Leucodistrofie dell’adulto

Author: N. Menjot de Champfleur, Pierre Labauge, Xavier Ayrignac, and Clarisse Carra-Dalliere
Subjects: 0301 basic medicine, Physics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Humanities, 030217 neurology & neurosurgery
Abstract: Le leucodistrofie dell’adulto costituiscono un vasto campo diagnostico. La questione principale e sapere se il medico si trova in presenza di una leucodistrofia di origine vascolare o meno. A favore di un’origine vascolare, si ricorda l’interessamento dei nuclei grigi, della parte mediana del ponte e di microsanguinamenti in eco di gradiente. In una tale situazione, la patologia piu frequente e rappresentata dalla CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), il cui gene mutato e Notch3. Una mutazione del gene COLIVA1 e riscontrata sempre piu spesso. Nuove leucodistrofie vascolari sono state identificate recentemente, anche se la loro frequenza e molto rara. L’evidenza di cavitazioni, definite dalla presenza di vaste zone di iposegnale sulle sequenze fluid attenuated inversion recovery all’interno della demielinizzazione, e un importante segno neuroradiologico, perche orienta fin dall’inizio verso la sindrome CACH/VWM (childhood ataxia with central nervous system hypomyelination [CACH] o vanishing white matter disease [VWM]), descritta inizalmente nei bambini. In presenza di una leucodistrofia non vascolare e non cavitaria, deve essere realizzato un bilancio enzimatico, e l’evidenza di un deficit enzimatico deve, allora, essere confermata dalla presenza di una mutazione causale. Anche se la patologia e, il piu delle volte, recessiva, sono sempre piu spesso descritte delle leucodistrofie a trasmissione dominante, la cui analisi molecolare diretta permette di stabilirne la diagnosi.
Published: 2016
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25. Use of quantitative susceptibility mapping (QSM) in progressive multifocal leukoencephalopathy

Author: M.L. Casanova, Elodie Nerrant, Xavier Ayrignac, Clarisse Carra-Dalliere, Pierre Labauge, Jeremy Deverdun, N. Menjot de Champfleur, A. Makinson, Neuroradiologie [Hôpital Gui de Chauliac], Hôpital Gui de Chauliac [Montpellier], 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), Laboratoire Charles Coulomb (L2C), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Recherches Translationnelles sur le VIH et les maladies infectieuses endémiques er émergentes (TransVIHMI), Université Cheikh Anta Diop [Dakar, Sénégal] (UCAD)-Institut de Recherche pour le Développement (IRD)-Université de Yaoundé I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Université Montpellier 1 (UM1), and Université de Montpellier (UM)
Subjects: Male, Pathology, medicine.medical_specialty, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, JC virus, [SDV.IB.MN]Life Sciences [q-bio]/Bioengineering/Nuclear medicine, Fluid-attenuated inversion recovery, medicine.disease_cause, 030218 nuclear medicine & medical imaging, Multiple sclerosis, 03 medical and health sciences, Magnetic resonance imaging, 0302 clinical medicine, Natalizumab, Progressive multifocal leukoencephalopathy, Image Processing, Computer-Assisted, medicine, Humans, Radiology, Nuclear Medicine and imaging, Prospective Studies, Radiological and Ultrasound Technology, medicine.diagnostic_test, business.industry, Leukoencephalopathy, Progressive Multifocal, Brain, Signal Processing, Computer-Assisted, Quantitative susceptibility mapping, Middle Aged, HIV infection, medicine.disease, Hyperintensity, 3. Good health, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, medicine.drug
Abstract: Summary Background Progressive multifocal leukoencephalopathy (PML) is an opportunistic demyelinating encephalopathy related to JC virus. Its characteristics on conventional brain MRI are well known and are important for the diagnosis. Objective To analyze SWI hypointensities recently described in U-fibers and cortex adjacent to the white matter lesions of PML. Methods Prospective study including four patients with an history of definite diagnosis of PML. Clinical data were collected retrospectively. Brain MRI exams were done on a 3 T magnet, including FLAIR, T2 GRE sequences and SWI. Results Four males were included (mean age: 47 years, mean PML duration: 24.2 months). Immunosuppression was related to AIDS (n = 2), natalizumab for multiple sclerosis (n = 1), B-cell lymphoma treated by chemotherapeutic agents and rituximab (n = 1). All patients had SWI hypointensities in cortex and/or U-fibers adjacent to the white matter lesions. QSM always suggested a paramagnetic effect. Conclusion SWI and T2 GRE hypointensities in cortex and U-fibers adjacent to the white matter lesions seem highly prevalent in PML, irrespective of the delay between PML onset and the MRI. QSM data suggest a paramagnetic effect.
Published: 2016
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26. TWEAK : un nouveau biomarqueur sérique d’intérêt dans la SEP ?

Author: Xavier Ayrignac, Thierry Vincent, Pauline Prin, Pierre Labauge, Mahmoud Charif, Sophie Desplat Jego, Clarisse Carra-Dalliere, Frédéric Pinna, Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Assistance Publique - Hôpitaux de Marseille (APHM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Université de Montpellier (UM)
Subjects: Neurology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 3. Good health
Abstract: Introduction TWEAK est une cytokine produite par les monocytes/macrophages qui contribue a la neuroinflammation dans la SEP. Nous avons precedemment montre que la valeur serique de TWEAK soluble etait eleve chez les patients SEP et associee a l’activite de la maladie. Objectifs L’objectif de cette etude est : – de confirmer les donnees preliminaires sur une plus grande cohorte de patients SEP et de controle ; – de comparer les valeurs de TWEAK chez des patients presentant une SEP RR et une SEP progressive. Patients et methodes Le serum de 179 sujets (93 SEP-RR, 20 SEP-PP, 46 SEP-SP et 20 controles) a ete collecte et les valeurs de TWEAK ont ete analysees a l’aide d’un kit ELISA. Resultats La valeur serique de TWEAK etait significativement plus elevee chez les SEP-RR que chez les controles (1052 ± 405 pg/ml vs 864 ± 209 pg/ml, p = 0,03). La valeur serique de TWEAK etait egalement plus elevee chez les SEP-RR que chez les patients progressifs (1052 ± 405 pg/ml vs 951 ± 266 pg/ml), bien que cela ne soit pas significatif. Quel que soit le type de SEP, il n’existait pas de correlation entre la valeur de TWEAK et l’EDSS. Discussion Nos donnees suggerent, sur une cohorte independante, que TWEAK est plus eleve chez les patients SEP (notamment les SEP-RR) que chez les controles. Des analyses ulterieures vont explorer la relation entre les valeurs de TWEAK et l’activite clinique et radiologique de la maladie. Conclusion TWEAK pourrait etre un biomarqueur serique additionnel de la SEP principalement associe aux phases recurrentes remittentes de la maladie et notamment aux formes actives.
Published: 2020
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27. From Baló’s concentric sclerosis to multiple sclerosis: a series of 6 patients

Author: Marc Girard, Clarisse Carra-Dalliere, Alexandre Prat, Laurent Létourneau-Guillon, Xavier Ayrignac, Pierre Duquette, José Poirier, Catherine Larochelle, Boaz Lahav, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Université de Montpellier (UM)
Subjects: Adult, Male, medicine.medical_specialty, Multiple Sclerosis, Adolescent, [SDV]Life Sciences [q-bio], Severity of Illness Index, Lesion, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Vein, Retrospective Studies, Series (stratigraphy), business.industry, Multiple sclerosis, Oligoclonal Bands, Diffuse Cerebral Sclerosis of Schilder, Mean age, McDonald criteria, General Medicine, Prognosis, medicine.disease, Magnetic Resonance Imaging, Hemiparesis, medicine.anatomical_structure, Neurology, Disease Progression, Female, Neurology (clinical), Radiology, Concentric sclerosis, medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: Introduction Balo’s concentric sclerosis (BCS) is a rare CNS disorder characterized by alternating bands of demyelination on MRI. One of the main issues is its relationship with multiple sclerosis (MS). Objectives To describe 6 BCS patients. To review the risk of developing MS in BCS patients. Methods We retrospectively recorded clinical and radiological findings of 6 BCS patients and performed a review of the literature. Results Six patients (5 women) with a mean age of 25 years old were included. Main symptoms were hemiparesis/hemihypoesthesia. On MRI, two patients had a single BCS lesion and four had additional MS-like lesions. Alternating bands were usually more visible on DWI. A patient had reduced central perfusion and SWI hypointensity suggestive of a central vein. Oligoclonal bands were identified in 5/6 patients. After 7 years of follow-up, all patients achieved MS criteria with mild disability (mean EDSS 1.75; 0–4). Our literature review included 65 BCS patients from 30 studies: although CSF oligoclonal bands and the presence of additional MS lesions were associated with subsequent relapses, this was not significant. Discussion/conclusion Our series allows a detailed MRI description in BCS and gives a new insight into BCS evolution and its strong relationship with MS.
Published: 2020
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28. Optic chiasm and oculomotor nerves involvement in active multiple sclerosis

Author: Nicolas Menjot de Champfleur, Xavier Ayrignac, Clarisse Carra-Dalliere, Pierre Labauge, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Laboratoire Charles Coulomb (L2C), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), and GHU Garemeau-Nîmes
Subjects: Radiological and Ultrasound Technology, business.industry, Multiple sclerosis, [SCCO.NEUR]Cognitive science/Neuroscience, Optic chiasm, medicine.disease, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Text mining, medicine.anatomical_structure, medicine, Radiology, Nuclear Medicine and imaging, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2018
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29. Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

Author: Simon Samaan, Emmanuel Ellie, Didier Hannequin, Frédérique Etcharry-Bouyx, Giovanni Castelnovo, Clarisse Carra-Dalliere, Yann Nadjar, I. Le Ber, Kevin Mouzat, Xavier Ayrignac, Imen Dorboz, F. Mochel, Odile Boespflug-Tanguy, Christophe Verny, Pierre Labauge, Serge Lumbroso, Pekes Codjia, Cecilia Marelli, Serge Belliard, Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), 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), Le CHCB, Centre Hospitalier de la Côte Basque, 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), Service de Neurologie [Rennes] = Neurology [Rennes], CHU Pontchaillou [Rennes], Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de neuropédiatrie et maladies métaboliques [CHU Robert-Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie [Rennes], Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes]
Subjects: Adult, Male, Pathology, medicine.medical_specialty, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Neuroimaging, [SDV.IB.MN]Life Sciences [q-bio]/Bioengineering/Nuclear medicine, Fluid-attenuated inversion recovery, 030218 nuclear medicine & medical imaging, White matter, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Leukoencephalopathies, medicine, Humans, Radiology, Nuclear Medicine and imaging, Axonal spheroids, business.industry, Adult Brain, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, 3. Good health, medicine.anatomical_structure, Corticospinal tract, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Neurology (clinical), France, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
Abstract: International audience; Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is an autosomal dominant leukoencephalopathy related to CSF1R gene mutations. A growing number of clinicoradiologic phenotypes have been described. In this study, we analyzed brain imaging findings in 16 patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia to refine radiologic diagnostic clues. T2/FLAIR white matter hyperintensities were present in all patients with frontal or frontoparietal predilection, with asymmetric distribution in more than one-third. Brain atrophy and callosal involvement were almost constant, and corticospinal tract involvement was frequent. Moreover, deep white matter hyperintense dots on DWI and deep punctate calcifications on CT were often found. Conversely, deep gray matter nuclei, external capsules, and brain stem were rarely involved. Our series emphasized the great variability of MR imaging findings seen in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. A complete imaging screening including DWI, T2*, and CT is mandatory to accurately assess patients with suspected inherited adult-onset leukoencephalopathy.
Published: 2018
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30. Multiple sclerosis with atypical MRI presentation: Results of a nationwide multicenter study in 57 consecutive cases

Author: Xavier Ayrignac, Mikael Cohen, Françoise Durand-Dubief, Sfsep, Mahmoud Charif, Jérôme De Seze, Ofsep, Anaïs Lippi, Lucas Corti, Nicolas Collongues, Pierre Labauge, Sandra Vukusic, Pekes Codjia, Christine Lebrun, and Clarisse Carra-Dalliere
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, Multiple Sclerosis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Aged, Retrospective Studies, Aged, 80 and over, business.industry, Multiple sclerosis, Leukodystrophy, Brain, McDonald criteria, Retrospective cohort study, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Neurology, Multicenter study, Spinal Cord, Acute disseminated encephalomyelitis, Female, Neurology (clinical), Presentation (obstetrics), Differential diagnosis, business, 030217 neurology & neurosurgery, Preliminary Data
Abstract: Background The recent 2017 modification have increased the sensitivity of McDonald criteria for MS. Nevertheless, some MS patients with atypical MRI findings have been identified, leading to prolonged delay to diagnosis and high costs to look for alternative diagnoses. Objective To describe a series of MS patients with atypical MRI presentation. Material and methods Patients with atypical MS were identified through a nationwide retrospective study. We established a five groups classification: tumefactive demyelinating lesion (TDL)-onset MS, acute disseminated encephalomyelitis (ADEM)-like MS, cavitary MS and leukodystrophy-like MS. All the patients meeting our radiological criteria for atypical MS were included. Results A total of 57 patients met the inclusion criteria. 7 cases were classified in the TDL-onset group, 10 in the ADEM-like group, 26 in the cavitary group and 14 in the leukodystrophy-like group. Overall risk of conversion to MS after an isolated TDL was around 30% at five years. Patients in the TDL-onset and ADEM-like groups globally presented an acute onset and a relapsing-remitting evolution. Conversely, patients in the cavitary and leukodystrophy- groups largely evolved with a progressive and severe course. Conclusion A significant number of MS patients can have a striking atypical presentation and may be misdiagnosed. This preliminary analysis helps to refine the spectrum of atypical MS patients.
Published: 2018

31. The coexistence of recurrent cerebral tumefactive demyelinating lesions with longitudinally extensive transverse myelitis and demyelinating neuropathy

Author: Clarisse Carra-Dalliere, Jonathan Ciron, Nicolas Maubeuge, Xavier Ayrignac, Jean-Philippe Neau, and Pierre Labauge
Subjects: Nervous system, Male, Pathology, medicine.medical_specialty, Central nervous system, Polyradiculoneuropathy, Demyelinating Autoimmune Diseases, CNS, Myelitis, Transverse, Transverse myelitis, 03 medical and health sciences, 0302 clinical medicine, Recurrence, Medicine, Humans, Spectrum disorder, 030212 general & internal medicine, Demyelinating Disorder, Neuromyelitis optica, business.industry, Multiple sclerosis, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Neurology, Demyelinating neuropathy, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: Combined central and peripheral demyelination (CCPD) is a rare chronic inflammatory disorder of the nervous system. In this article, we report on a CCPD patient with a very unusual pattern of central demyelination, comprising recurrent cerebral tumefactive demyelinating lesions (three times, each one in a new area of the brain) and one episode of longitudinally extensive transverse myelitis. This patient could not be classified as having multiple sclerosis, or neuromyelitis optica spectrum disorder, or any other well-known inflammatory disorder of the central nervous system, associated with demyelinating neuropathy. A diagnosis of idiopathic inflammatory demyelinating disorder (IIDD) was made while waiting for more knowledge concerning the diseases currently characterized as IIDD.
Published: 2018

32. Efficacy of rituximab in refractory RRMS

Author: Clarisse Carra-Dalliere, Pierre Durozard, Marc Debouverie, Audrey Rico Lamy, Bruno Brochet, C. Giannesini, Olivier Gout, Aurélie Ruet, Jean Pelletier, Sandra Vukusic, Adil Maarouf, Bertrand Audoin, Jonathan Ciron, Caroline Papeix, Clemence Boutiere, David Brassat, Catherine Lubetzki, C. Bensa, Bruno Stankoff, Elisabeth Maillart, Pierre Labauge, Guillaume Mathey, Aix-Marseille Université - Faculté de médecine (AMU MED), Aix Marseille Université (AMU), Centre de résonance magnétique biologique et médicale (CRMBM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - AP-HM] (CEMEREM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre National de la Recherche Scientifique (CNRS), Service de neurologie [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de neurologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), 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), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neurologie [CHU Nice], Hôpital Pasteur [Nice] (CHU)-Centre Hospitalier Universitaire de Nice (CHU Nice), Department of Neurology, Fondation A de Rothschild, 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), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM] (CEMEREM), Hôpital de la Timone [CHU - APHM] (TIMONE)-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)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Université de Bordeaux (UB), Hospices Civils de Lyon, Departement de Neurologie (HCL), Fondation Eugène Devic EDMUS, 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), Fondation Ophtalmologique Adolphe de Rothschild [Paris], CHU Saint-Antoine [AP-HP], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre de Physiopathologie Toulouse Purpan (CPTP), Université Toulouse III - Paul Sabatier (UT3), and 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)
Subjects: Oncology, Male, [SDV]Life Sciences [q-bio], 0302 clinical medicine, Outcome Assessment, Health Care, 030212 general & internal medicine, disease-modifying therapies, relapsing/remitting, ComputingMilieux_MISCELLANEOUS, MESH: Middle Aged, medicine.diagnostic_test, Middle Aged, 3. Good health, MESH: Immunologic Factors / administration & dosage, Neurology, MESH: Young Adult, Disease Progression, MESH: Disease Progression, Rituximab, Female, medicine.drug, Adult, medicine.medical_specialty, Treatment response, MESH: Rituximab / pharmacology, Multiple sclerosis, MESH: Rituximab / administration & dosage, 03 medical and health sciences, Young Adult, Multiple Sclerosis, Relapsing-Remitting, Refractory, Rescue therapy, Internal medicine, medicine, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Humans, Immunologic Factors, In patient, MESH: Outcome Assessment, Health Care, Retrospective Studies, MESH: Humans, business.industry, treatment response, MESH: Adult, MESH: Retrospective Studies, Magnetic resonance imaging, medicine.disease, MESH: Male, Persistent Disease, MESH: Immunologic Factors / pharmacology, second-line treatment, MESH: Multiple Sclerosis, Relapsing-Remitting / drug therapy, Neurology (clinical), business, MESH: Female, 030217 neurology & neurosurgery
Abstract: Objective: To investigate the efficacy of rituximab as rescue therapy in patients with relapsing-remitting multiple sclerosis (RRMS) and persistent disease activity confirmed by magnetic resonance imaging (MRI) despite immunosuppressive disease-modifying therapy (DMT). Methods: In this observational nationwide retrospective multicenter study, we first identified 351 off-label rituximab-treated patients through a cohort of 15,984 RRMS patients. In this group, we identified patients with disease activity prior to rituximab confirmed by MRI (one or more new T2 lesion and/or gadolinium-enhancing lesion) despite immunosuppressive DMT (fingolimod, natalizumab, or mitoxantrone) with a follow-up after rituximab initiation longer than 6 months. Outcome data were collected from the French Observatory of Multiple Sclerosis (OFSEP) register and medical charts. Results: A total of 50 patients were identified. Median rituximab treatment duration was 1.1 (0.5–6.4) year. Mean annualized relapse rate significantly decreased from 0.8 during last immunosuppressive DMT to 0.18 after rituximab ( p Conclusion: This study provides level IV evidence that rituximab reduces clinical and MRI disease activity in patients with active RRMS despite immunosuppressive DMT.
Published: 2018
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33. Psychological processes associated with insomnia in patients with multiple sclerosis

Author: Marie-Christine Gély-Nargeot, Clarisse Carra-Dalliere, Pierre Labauge, Jeanne Bernard, Vanessa Schellaert, Jean-Baptiste Blache, Sophie Bayard, Khaalid Hassan Maudarbocus, Cindy Lebrun, Xavier Ayrignac, Dynamique des capacités humaines et des conduites de santé (EPSYLON), Université de Montpellier (UM)-Université Paul-Valéry - Montpellier 3 (UPVM)-Université Montpellier 1 (UM1), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Montpellier, Euromov (EuroMov), ONERA - The French Aerospace Lab [Châtillon], Université Paris Saclay (COmUE)-ONERA, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), and Université Montpellier 1 (UM1)-Université Paul-Valéry - Montpellier 3 (UM3)-Université de Montpellier (UM)
Subjects: Adult, Male, Multiple Sclerosis, [SDV]Life Sciences [q-bio], media_common.quotation_subject, medicine.medical_treatment, Emotions, Neurological examination, Comorbidity, Neurological disorder, Anxiety, 03 medical and health sciences, 0302 clinical medicine, Sleep Initiation and Maintenance Disorders, Physiology (medical), mental disorders, medicine, Safety behaviors, Humans, 030212 general & internal medicine, ComputingMilieux_MISCELLANEOUS, media_common, medicine.diagnostic_test, business.industry, Cognition, Middle Aged, medicine.disease, nervous system diseases, 3. Good health, Cognitive behavioral therapy, Cross-Sectional Studies, [SCCO.PSYC]Cognitive science/Psychology, Female, Self Report, Neurology (clinical), Worry, medicine.symptom, Sleep, Arousal, business, 030217 neurology & neurosurgery, Clinical psychology
Abstract: International audience; Study Objectives: Despite the high comorbidity of insomnia disorder (ID) with multiple sclerosis (MS), the relevance of psychological processes involved in the maintenance of insomnia is yet to be established in this neurological disorder. This study aimed to ascertain to what extent the suggested emotional, cognitive, and behavioral processes maintaining insomnia are relevant in people with insomnia and MS. Methods: A between-subjects design was used to compare 26 patients with insomnia and MS, with 31 patients with MS only, and with 26 matched neurological disease-free individuals with insomnia. All patients participated in a standardized clinical interview and completed a battery of self-reported measures of cognitive and somatic presleep arousal experienced at bedtime, sleep- or insomnia-related unhelpful beliefs, and sleep-related safety behaviors. All patients with MS underwent a neurological examination. Results: ID comorbid to MS was strongly associated with increased levels of cognitive and somatic arousal, higher endorsement of dysfunctional beliefs about the consequences of insomnia on daytime functioning, and worry about insomnia and more frequent engagement in sleep-related safety behaviors. Patients with MS with ID did not differ from neurological disease-free individuals with insomnia on these measures. No link was found between MS clinical peculiarities and ID diagnosis. Conclusions: ID comorbid to MS is associated with the classical psychological factors perpetuating ID in neurological disease-free individuals with insomnia. Primary care providers and neurologists should consider target-oriented therapies like cognitive behavioral therapy for chronic insomnia as a treatment approach for ID comorbid to MS.
Published: 2018
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34. Atypical inflammatory demyelinating lesions and atypical multiple sclerosis

Author: Clarisse Carra-Dalliere, Xavier Ayrignac, Pierre Labauge, Département de neurologie [Montpellier], and Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)
Subjects: Pathology, medicine.medical_specialty, Multiple Sclerosis, [SDV]Life Sciences [q-bio], Acute hemorrhagic leukoencephalitis, Disease, 030218 nuclear medicine & medical imaging, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Tumefactive demyelination, Diagnosis, Medicine, Humans, In patient, Demyelinating Disorder, Pathological, medicine.diagnostic_test, business.industry, Multiple sclerosis, Solitary sclerosis, Magnetic resonance imaging, Diffuse Cerebral Sclerosis of Schilder, medicine.disease, Atypical demyelinating lesions, Magnetic Resonance Imaging, 3. Good health, Balo's concentric sclerosis, Neurology, Differential, Encephalitis, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery, Demyelinating Diseases
Abstract: International audience; Atypical idiopathic inflammatory demyelinating disorders (IIDDs) of the brain have long been known to be disorders closely related to multiple sclerosis (MS), despite having distinctive clinical and radiological characteristics. Originally, they mostly corresponded to acute-onset variants of MS that classically had poor prognoses, such as Baló's concentric sclerosis, Marburg variant of MS and Schilder's disease, and their relationship with MS was based on their shared pathological findings and the co-occurrence of these variants in patients with typical MS. More recently, other atypical disorders, such as solitary sclerosis, have also been described as belonging to the MS spectrum, raising the question of their links with MS. Meanwhile, multiple MS mimics have been described and need to be considered in the differential diagnosis of MS. In addition, thorough characterization of these atypical entities, including advanced MRI and biological studies, is now warranted to further improve their management.
Published: 2018
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35. Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review

Author: Clarisse Carra-Dalliere, Didier Hannequin, Gaël Nicolas, Xavier Ayrignac, Pierre Labauge, 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), and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)
Subjects: 0301 basic medicine, Collagen Type IV, Pathology, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, Cerebral calcification, [SDV]Life Sciences [q-bio], Brain calcifications, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Calcinosis, Leukoencephalopathies, Basal ganglia, medicine, Humans, Tomography Scanners, Brain Diseases, medicine.diagnostic_test, business.industry, Leukodystrophy, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, 3. Good health, X-Ray Computed, 030104 developmental biology, Mutation, Neurology (clinical), Radiology, business, 030217 neurology & neurosurgery
Abstract: International audience; Importance: Adult-onset genetic leukoencephalopathies and leukodystrophies are increasingly recognized as a heterogeneous group of disorders with new diagnostic approaches and potential treatments. In the new era of genomics, the challenging interpretation of individual genetic variations requires an accurate phenotypic description and classification. Clinical and magnetic resonance imaging (MRI)-based approaches have been proposed to improve the diagnostic process of adult-onset leukoencephalopathies. Cerebral calcifications, when associated with white matter hyperintensities, are of major importance in the decision-making process to focus the diagnosis among the diversity of rare causes. Observations: This literature review demonstrated that the morphologic features and topography of the calcifications observed in a careful combined analysis of computed tomographic and MRI scans may help indicate the diagnosis of adult-onset genetic leukoencephalopathies. Vascular genetic leukoencephalopathies are an important cause of leukoencephalopathy with calcifications. Among them, COL4A1-related disorders are frequently associated with spotlike calcifications in the basal ganglia. Adult-onset leukoencephalopathy with axonal spheroids, a probably underestimated disorder, is associated with a specific pattern of calcifications: small, symmetric, sparing the basal ganglia, and a stepping stone appearance in the frontal pericallosal region. Moreover, disorders primarily associated with basal ganglia calcifications, such as primary familial brain calcifications, can be associated with marked leukoencephalopathy. Conclusions and Relevance: The number of identified causes of adult-onset genetic leukoencephalopathies has recently increased. A diagnostic algorithm should take into account the pattern of calcifications to better target the genetic analyses.
Published: 2017
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36. Paraplegia related to solitary lesion of the cervicomedullary junction

Author: Clarisse Carra-Dalliere, Xavier Ayrignac, Pierre Labauge, Guillaume Taieb, Département de neurologie [Montpellier], and Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM)
Subjects: Adult, Male, 030506 rehabilitation, medicine.medical_specialty, Neurology, Pyramidal decussation, 03 medical and health sciences, 0302 clinical medicine, Solitary Nucleus, Medicine, Humans, ComputingMilieux_MISCELLANEOUS, Neuroradiology, Paraplegia, business.industry, Solitary sclerosis, General Medicine, Anatomy, medicine.disease, Magnetic Resonance Imaging, Cervicomedullary Junction, Solitary lesion, Cervicomedullary junction, Spinal Diseases, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), 0305 other medical science, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Demyelinating Diseases
Abstract: International audience
Published: 2017
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37. Giant cell arteritis with severe bilateral involvement of the intracranial arteries

Author: Chérif Heroum, Alain Bonafe, Caroline Arquizan, Clarisse Carra-Dalliere, and Nicolas Menjot de Champfleur
Subjects: Giant cell arteritis, medicine.medical_specialty, Radiological and Ultrasound Technology, medicine.diagnostic_test, business.industry, medicine, Radiology, Nuclear Medicine and imaging, Magnetic resonance imaging, Neurology (clinical), Radiology, medicine.disease, business, Neuroradiology
Abstract: Journal of Neuroradiology - In Press.Proof corrected by the author Available online since mardi 23 juillet 2013
Published: 2014
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38. Lack of confirmation of anti-inward rectifying potassium channel 4.1 antibodies as reliable markers of multiple sclerosis

Author: Cédric Raoul, Julie Tisseyre, Xavier Ayrignac, Céline Salsac, Jean-François Eliaou, Giovanni Castelnovo, Elodie Nerrant, Radjiv Goulabchand, Pierre Labauge, Thierry Vincent, Clarisse Carra-Dalliere, and Mahmoud Charif
Subjects: Adult, Male, Pathology, medicine.medical_specialty, Multiple Sclerosis, Fluorescent Antibody Technique, Enzyme-Linked Immunosorbent Assay, Immunofluorescence, Autoantigens, Humans, Medicine, Potassium Channels, Inwardly Rectifying, Autoantibodies, biology, medicine.diagnostic_test, business.industry, Inward-rectifier potassium ion channel, Multiple sclerosis, Autoantibody, medicine.disease, Potassium channel, Neurology, Immunology, Lower prevalence, biology.protein, Biomarker (medicine), Female, Neurology (clinical), Antibody, business, Biomarkers
Abstract: Background: auto-antibodies against the potassium channel inward rectifying potassium channel 4.1 (Kir4.1) have previously been identified in 46% of patients with multiple sclerosis (MS). Objectives: to confirm these findings. Methods: we evaluated the presence of anti-Kir4.1 antibodies by enzyme-linked immunosorbent assay (ELISA) and immunofluorescence in 268 MS patients, 46 patients with other neurological diseases (OND) and 45 healthy controls. Results: anti-Kir4.1 antibodies were found in 7.5% of MS patients, 4.3% of OND patients and 4.4% of healthy controls. Immunofluorescence analysis did not identify any specific staining. Conclusions: we confirmed the presence of anti-Kir4.1 antibodies in MS patients, but at a much lower prevalence than previously reported.
Published: 2014
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39. Formes atypiques de sclérose en plaques et autres affections inflammatoires démyélinisantes idiopathiques du système nerveux central : étude nationale sur 88 cas

Author: Pekes Codjia, Clarisse Carra-Dalliere, Sfsep, Françoise Durand-Dubief, Ofsep, Pierre Labauge, Jérôme De Seze, Xavier Ayrignac, and Christine Lebrun-Frenay
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction Au-dela des criteres classiques de sclerose en plaques (SEP), de plus en plus de formes atypiques de SEP ou d’autres affections inflammatoires demyelinisantes idiopathiques (AIDI) du systeme nerveux central (SNC) sont decrites. Objectifs Preciser les phenotypes clinico-radiologiques des formes atypiques de SEP et d’AIDI du SNC. Methodes Les patients presentant des formes atypiques de SEP et d’AIDI ont ete identifies retrospectivement dans le cadre d’une etude nationale. Nous avons etabli une classification en 6 groupes : lesions pseudo-tumorales isolees, SEP cavitaires, sclerose solitaire, SEP pseudo-ADEM, SEP pseudo-leucodystrophie et « SEP a IRM normale ». Resultats Quatre-vingt-huit patients (55 F/33 M) verifiaient les criteres d’inclusion. Vingt-cinq avaient une lesion pseudo-tumorale isolee, 24 etaient classes SEP cavitaires. Six patients une sclerose solitaire. Le groupe SEP pseudo-ADEM comprenait 11 patients. Le groupe SEP pseudo-leucodystrophie comportait 13 patients Le groupe « SEP a IRM normale » incluait 9 patients avec une atteinte optico-spinale recurrente et une IRM cerebrale normale malgre une dissemination spatiale et temporelle. Discussion Les patients des groupes SEP cavitaires, SEP pseudo-leucodystrophie et sclerose solitaire evoluent majoritairement de maniere progressive ; contrairement aux groupes SEP pseudo-ADEM et « SEP a IRM normale » qui comportent une majorite de formes RR. La plupart des patients avec une lesion pseudo-tumorale isolee ne presentent pas de recidives. Conclusion Cette etude permet d’elargir le spectre des formes atypiques de SEP et d’AIDI du SNC.
Published: 2018
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40. Étude comparative des biomarqueurs amyloïdes dans le LCR de patients ayant une sclérose en plaques

Author: Clarisse Carra-Dalliere, Sylvain Lehmann, Xavier Ayrignac, Florent Sagne, Pauline Prin, Pierre Labauge, and Aleksandra Maleska-Maceski
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction Il existe un interet croissant pour l’identification de biomarqueurs diagnostiques et pronostiques de la SEP. Neanmoins, les etudes analysant les proteines amyloides et Tau dans la SEP sont rares. Objectifs Analyser le taux de peptides beta-amyloides et tau dans le LCR de patients SEP recemment diagnostiques et le correler avec divers marqueurs cliniques de la maladie. Methodes Les taux des proteines amyloides Aβ40, Aβ 42, Tau et pTau ont ete determines a partir d’echantillons de LCR de 36 patients SEP : 7 SEP-RR, 16 SEP-PP et 13 syndromes cliniquement isoles. Une analyse comparative a ete effectuee en fonction des donnees de la maladie : âge de debut, âge, duree d’evolution, formes de la maladie, EDSS au prelevement, traitement et activite de la maladie. Resultats Trente-six patients (22 femmes/14 hommes) ont ete inclus avec un âge moyen de 44,1 ans. Le score EDSS moyen etait de 2,5. Il n’y avait pas de difference statistiquement significative entre les taux des differents biomarqueurs et les CIS/SEP-RR et SEP PP. Cependant la valeur d’As42 etait plus basse (p = NS) chez les patients progressifs (920 vs 990 pg/mL) et chez ceux qui avaient un EDSS superieur a 3 (920 vs 990 pg/mL). Discussion De rares etudes ont montre une correlation entre la diminution d’Aβ42 et le score EDSS. Nos resultats ne semblent pas confirmer pas cette correlation. Neanmoins, ils suggerent une diminution du peptide As42 chez les SEP progressives primaires et egalement precocement chez les patients avec un handicap plus marque qui necessite d’etre analysee sur une plus grande cohorte de patients. Conclusion Sous reserve d’un faible nombre de patients, l’analyse des biomarqueurs amyloides chez les patients SEP ne semble pas etre correlee a la forme de SEP.
Published: 2018
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41. La GFAP sérique est-elle un biomarqueur d’intérêt dans la SEP ?

Author: Mahmoud Charif, Clarisse Carra-Dalliere, Sylvain Lehmann, Nicolas Menjot de Champfleur, Frédéric Pinna, Pauline Prin, Cyndi Catteau, Xavier Ayrignac, Emannuelle Le Bars, Claire Duflos, Christophe Hirtz, Pierre Labauge, Nelly Ginestet, Aleksandra Maleska-Maceski, and Lucas Corti
Subjects: 03 medical and health sciences, 0302 clinical medicine, Neurology, 030212 general & internal medicine, Neurology (clinical), 030217 neurology & neurosurgery
Abstract: Introduction Le dosage serique des neurofilaments chaines legeres semble etre interessant dans la SEP. Neanmoins l’identification de nouveaux biomarqueurs permettant de mieux preciser le profil evolutif de la maladie est necessaire. Objectifs Evaluer l’interet du dosage serique de GFAP en tant que marqueur d’evolution de la SEP (activite et/ou progression). Evaluer son benefice en comparaison du dosage des NFL-l. Patients et Methodes Une etude retrospective monocentrique a ete menee sur 129 patients : 111 SEP-RR (21 actives) et 18 SEP-PP. Les valeurs seriques de GFAP et NFL-l ont ete analysees en fonction des criteres de la maladie : forme (SEP-PP/SEP-RR), poussee recente dans le groupe SEP-RR, âge, duree d’evolution, etc.. La correlation entre les valeurs des biomarqueurs et la charge lesionnelle T2/FLAIR a egalement ete analysee. Resultats Les valeurs de GFAP et de NFL-l, associees entre elles, etaient associees a l’âge des patients et a la forme de la maladie. Dans le groupe SEP-PP, les valeurs de la GFAP (130 vs 83 pg/ml) et des NFL-l (13,6 vs 9,3 pg/ml) etaient plus elevees. En analyse multivariee, seule la GFAP restait plus elevee. Dans le groupe SEP-RR, les patients avec poussee recente avaient des NFL-l plus eleves (NS) et une GFAP plus basse (p = 0,015). Discussion Notre etude suggere que le taux de GFAP (et dans une moindre mesure de NFL-l) est plus eleve chez les SEP-PP que chez les SEP-RR. Dans ce dernier groupe, le fait d’avoir une GFAP basse semble associe a la survenue recente de poussee. Neanmoins, le faible nombre de patients dans certains groupes et l’heterogeneite des groupes limitent l’etendue de ces resultats. Conclusion La GFAP serique semble etre un biomarqueur d’interet dans l’evaluation de la SEP. Nos resultats doivent etre confirme dans des cohortes independantes et de plus grande taille.
Published: 2019
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42. Diagnostics différentiels de la sclérose en plaques

Author: Bruno Brochet, M. de Sèze, Olivier Gout, Pierre Labauge, Jean Pelletier, Agnès Fromont, X. Gamé, Béatrice Jenny, C. Vignal-Clermont, C. Harand, Cécile Donzé, P.-H. Lalive, Eric Thouvenot, Bertrand Audoin, Jérôme De Seze, Jean-Christophe Ouallet, Etienne Allart, Clarisse Carra-Dalliere, Xavier Ayrignac, Gilles Edan, L. Michel, Olivier Outteryck, F. Pelé, Anne Blanchard-Dauphin, Mikael Cohen, Pierre Clavelou, Nicolas Collongues, E. Le Page, Marc Debouverie, David Brassat, Alain Créange, Hélène Zéphir, S. Pittion-Vouyovitch, Aurélie Ruet, P. Marque, Xavier Moisset, Christine Lebrun-Frénay, David Veillard, C. Guillon, C. Bensa, Anne-Laure Ramelli, Sandra Vukusic, and Gilles-Louis Defer
Subjects: business.industry, Medicine, business
Published: 2017
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43. Signes et symptômes de la sclérose en plaques

Author: P. Marque, Olivier Outteryck, Anne-Laure Ramelli, Sandra Vukusic, Gilles-Louis Defer, C. Guillon, Agnès Fromont, Jean Pelletier, Mikael Cohen, Cécile Donzé, Pierre Clavelou, Bruno Brochet, C. Vignal-Clermont, C. Harand, Eric Thouvenot, S. Pittion-Vouyovitch, L. Michel, X. Gamé, Alain Créange, Xavier Ayrignac, Olivier Gout, F. Pelé, Christine Lebrun-Frénay, Béatrice Jenny, Etienne Allart, C. Bensa, Aurélie Ruet, Xavier Moisset, Bertrand Audoin, David Veillard, Hélène Zéphir, Jérôme De Seze, Marc Debouverie, Gilles Edan, Jean-Christophe Ouallet, M. de Sèze, Pierre Labauge, Clarisse Carra-Dalliere, David Brassat, E. Le Page, Anne Blanchard-Dauphin, Nicolas Collongues, and P.-H. Lalive
Subjects: business.industry, Medicine, business
Published: 2017
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44. Thérapeutiques et prise en charge de la sclérose en plaques

Author: C. Bensa, Jean-Christophe Ouallet, Mikael Cohen, Pierre Clavelou, Olivier Outteryck, Bruno Brochet, S. Pittion-Vouyovitch, Xavier Ayrignac, David Brassat, Cécile Donzé, C. Harand, X. Gamé, L. Michel, Marc Debouverie, Bertrand Audoin, F. Pelé, C. Guillon, Etienne Allart, Clarisse Carra-Dalliere, Eric Thouvenot, David Veillard, Anne-Laure Ramelli, Sandra Vukusic, Hélène Zéphir, Gilles Edan, Gilles-Louis Defer, E. Le Page, P. Marque, Jérôme De Seze, Alain Créange, Jean Pelletier, Olivier Gout, Agnès Fromont, Béatrice Jenny, C. Vignal-Clermont, Christine Lebrun-Frénay, P.-H. Lalive, M. de Sèze, Pierre Labauge, Xavier Moisset, Aurélie Ruet, Anne Blanchard-Dauphin, and Nicolas Collongues
Subjects: business.industry, Medicine, business
Published: 2017
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45. TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement

Author: Xavier Ayrignac, Philippe Girard, Clarisse Carra-Dalliere, Elisabeth Tournier-Lasserve, Carol Prieto-Morin, Pierre Labauge, Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Gadolinium, Leukodystrophy, chemistry.chemical_element, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, chemistry, Mutation (genetic algorithm), medicine, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), business, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience
Published: 2016
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46. Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies

Author: Clarisse Carra-Dalliere, Xavier Ayrignac, Clemence Boutiere, Pierre Labauge, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), 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), Médecine légale [Hôpital de la Timone - APHM], and Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: Adult, medicine.medical_specialty, Pathology, Neurology, Posterior fossa, 030218 nuclear medicine & medical imaging, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Genetic, Leukoencephalopathies, White matter disease, medicine, Humans, Age of Onset, Neuroradiology, medicine.diagnostic_test, business.industry, Leukodystrophy, Brain, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, MRI
Abstract: International audience; Adult-onset genetic leukoencephalopathies are increasingly recognized. They are heterogeneous groups of disorders that commonly have distinct pathologic mechanisms but they share the presence of supratentorial bilateral and symmetric white matter hyperintensities. Although these abnormalities are usually non-specific, some specific MRI findings exist and sometimes help to distinguish these disorders. In this review, our aim is to describe posterior fossa abnormalities seen in the main adult-onset genetic leukoencephalopathies enabling clinicians to perform oriented genetic/metabolic screening.
Published: 2016
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47. Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy: [RETRACTED]

Author: Clarisse Carra-Dalliere, Eric Berger, Kevin Mouzat, Eloi Magnin, Serge Lumbroso, Xavier Ayrignac, Pierre Labauge, Département de neurologie [Montpellier], Université Montpellier 1 ( UM1 ) -Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ) -Hôpital Gui de Chauliac, Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Régional Universitaire de Nîmes ( CHRU Nîmes ), Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ), Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), and Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)
Subjects: Adult, Male, Pathology, medicine.medical_specialty, Cerebral calcification, Urinary incontinence, Physical examination, Receptor, Macrophage Colony-Stimulating Factor, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Leukoencephalopathies, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Medicine, Humans, 030212 general & internal medicine, ComputingMilieux_MISCELLANEOUS, Cerebral Cortex, medicine.diagnostic_test, business.industry, Cysts, Calcinosis, medicine.disease, White matter changes, Magnetic Resonance Imaging, [ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Generalized hyperreflexia, Mutation, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Executive dysfunction
Abstract: A 37-year-old man was referred for a 1-year history of word naming difficulties and progressive executive dysfunction along with anxiety. Clinical examination showed generalized hyperreflexia and bilateral Babinski sign but was otherwise normal. His brain MRI (figure, A and B) showed extensive leukoencephalopathy with multiple small cysts within the white matter changes and no gadolinium enhancement. CT identified punctate calcifications with deep frontal and juxtacortical distribution (figure, C and D). His mother died at 63 years after a 10-year history of progressive cognitive impairment of frontal type, walking difficulties, and urinary incontinence. Her brain imaging was strikingly similar to her son's (figure, E–H).
Published: 2016
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48. Study of subclinical ocular motor disorders by video oculography in patients with clinically isolated syndromes

Author: Pierre Labauge, Giovanni Castelnovo, Dimitri Renard, Xavier Ayrignac, et Luc Jeanjean, Eric Thouvenot, Clarisse Carra-Dalliere, Adelaide Ferraro, Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), 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: Adult, Male, medicine.medical_specialty, Eye Movements, Ocular motor, Video Recording, Ocular Motility Disorders, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, medicine, Humans, In patient, Eye Movement Measurements, ComputingMilieux_MISCELLANEOUS, Subclinical infection, Video-oculography, business.industry, Multiple sclerosis, Eye movement, General Medicine, medicine.disease, Neurology, 030221 ophthalmology & optometry, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Demyelinating Diseases
Abstract: International audience
Published: 2016
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49. Brain magnetic resonance imaging helps to differentiate atypical multiple sclerosis with cavitary lesions and vanishing white matter disease

Author: N. Menjot de Champfleur, Astrid Corlobé, Jeremy Deverdun, S. Menjot de Champfleur, Clarisse Carra-Dalliere, Xavier Ayrignac, Pierre Labauge, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), 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), Neuroradiologie [Hôpital Gui de Chauliac], Hôpital Gui de Chauliac [Montpellier], Laboratoire Charles Coulomb (L2C), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Département de neurologie [Montpellier], and Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)
Subjects: Adult, Male, medicine.medical_specialty, Pathology, External capsule, Thalamus, cavitary lesions, Corpus callosum, multiple sclerosis, 030218 nuclear medicine & medical imaging, Corpus Callosum, Diagnosis, Differential, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Vanishing white matter disease, Leukoencephalopathies, medicine, Humans, magnetic resonance imaging, Retrospective Studies, vanishing white matter disease, medicine.diagnostic_test, business.industry, Multiple sclerosis, Magnetic resonance imaging, Middle Aged, medicine.disease, Hyperintensity, 3. Good health, medicine.anatomical_structure, Cross-Sectional Studies, Neurology, Ventricle, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), Radiology, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: BACKGROUND AND PURPOSE: Multiple sclerosis (MS) patients can present with atypical cavitary lesions mimicking vanishing white matter disease (VWMD). Our objective was to identify brain magnetic resonance imaging (MRI) findings that differentiate these two disorders. METHODS: A cross-sectional study was performed including 14 patients with MS with cavitary lesions and 14 patients with VWMD. Two neuroradiologists retrospectively reviewed the MRI including at least T1-, T2- and fluid-attenuated inversion recovery weighted images. RESULTS: The main differences included ovoid lesions perpendicular to the lateral ventricle, punctate isolated juxtacortical lesions (both 100% in MS versus 0% in VWMD) and symmetrical infratentorial hyperintensities (0% in MS versus 50% in VWMD). Other statistically significant differences included midbrain (79% in MS versus 29% in VWMD) and thalamus lesions (71% vs. 7%) as well as extensive external capsule involvement (29% vs. 86%) and extensive corpus callosum lesions (64% vs. 100%). Cavitary lesions usually had periventricular predominance in MS (36% vs. 0%) whereas they were more frequently anterior in VWMD (0% in MS versus 57% in VWMD). CONCLUSION: Despite many similar MRI findings, our results suggest that a careful analysis of the morphology and the location of the lesions is helpful to differentiate these distinct disorders.
Published: 2016
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50. Ataxie cérébelleuse associée à une encéphalite limbique et à un syndrome dysautonomique paranéoplasiques avec anticorps anti-GAD

Author: Eric Thouvenot, Jacques Touchon, F. Ducray, A. Bonafé, Mahmoud Charif, and Clarisse Carra-Dalliere
Subjects: Gynecology, medicine.medical_specialty, Anti gad antibodies, Neurology, business.industry, Limbic encephalitis, medicine, Neurology (clinical), medicine.disease, business
Abstract: Resume Introduction Les syndromes neurologiques frequemment associes a la presence d’anticorps anti-glutamic acid decarboxylase (GAD) sont le syndrome de l’homme raide et l’ataxie cerebelleuse. Observation Un homme de 59 ans, aux antecedents de tabagisme actif et de polyarthrite rhumatoide, consulta pour une ataxie cerebelleuse d’evolution subaigue. Il presentait egalement une encephalite limbique radioclinique et un syndrome dysautonomique. Le LCR etait inflammatoire et le bilan dysimmun revela la presence d’anticorps anti-GAD dans le serum. Les anticorps onconeuronaux et notamment les anticorps anti-recepteurs GABA B etaient negatifs. L’evolution neurologique fut favorable apres realisation de trois cures d’immunoglobulines et lors du suivi, un carcinome bronchique a petites cellules fut diagnostique permettant une prise en charge oncologique precoce. Conclusion Meme si la presence d’anticorps anti-GAD est rarement d’origine paraneoplasique, notre observation montre l’interet de la recherche d’une neoplasie primitive devant un tableau neurologique associe a ces anticorps.
Published: 2012
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