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1. Persistent IgG anticardiolipin autoantibodies are associated with post-COVID syndrome

Author: Daniel Bertin, Elsa Kaphan, Samuel Weber, Benjamin Babacci, Robin Arcani, Benoit Faucher, Amélie Ménard, Alexandre Brodovitch, Jean Louis Mege, and Nathalie Bardin
Subjects: COVID-19, anticardiolipin antibodies, long COVID syndrome, post-COVID syndrome, antiphospholipid antibodies, Infectious and parasitic diseases, RC109-216
Abstract: Persistence of various symptoms in patients who have recovered from coronavirus disease 2019 (COVID-19) was recently defined as ‘long COVID’ or ‘post-COVID syndrome’ (PCS). This article reports a case of a 58-year-old woman who, although recovering from COVID-19, had novel and persistent symptoms including neurological complications that could not be explained by any cause other than PCS. In addition to a low inflammatory response, persistence of immunoglobulin G anticardiolipin autoantibody positivity and eosinopenia were found 1 year after acute COVID-19 infection, both of which have been defined previously as independent factors associated with the severity of COVID-19. The pathophysiological mechanism of PCS is unknown, but the possibility of persistence of the virus, especially in the nervous system, could be suggested with a post-infectious inflammatory or autoimmune reaction.
Published: 2021
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2. Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

Author: Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, and Bénédicte Héron
Subjects: Niemann-pick disease type C, Adult-onset, Epidemiology, Miglustat, Efficacy, Safety, Medicine
Abstract: Abstract Background Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the effect of miglustat treatment are described in the largest cohort of patients with adolescent/adult-onset NP-C studied to date. Methods Observational study based on clinical chart data from adult patients with NP-C (> 18 year old) diagnosed in France between 1990 and 2015. Retrospective data from patients at diagnosis, onset of miglustat therapy (if applicable), and last follow up were analysed. Results In France, patients with an adolescent-adult neurological form constituted approximately 25% of all NP-C cases diagnosed during the study period. Forty-seven patients (46 with NP-C1 and one with NP-C2; 53% female) were included. Mean ± SD (range) ages at neurological onset and diagnosis were 23.9 ± 12.5 (8–56) years and 34 ± 13.5 (15–65) years, respectively. At presentation, patients mainly had 1) impaired gait due to cerebellar ataxia and/or dystonia, 2) and/or cognitive/behavioural manifestations, 3) and/or psychotic signs. Initially, almost half of patients had only one of the above three neuro-psychiatric manifestations. Vertical supranuclear gaze palsy, usually occurring without patient complaint, was only detected on careful clinical examination and was recorded in most patients (93%) at the time of diagnosis, several years after neurological onset. Thirty-seven patients (79%) received miglustat, among whom seventeen (46%) continued beyond 2 years (at last follow up) to a maximum of 9.8 years. Eight patients (22%) discontinued treatment early due to side effects (n = 3) or perceived lack of efficacy (n = 5).Miglustat treatment duration correlated significantly with reduced neurological worsening (p
Published: 2018
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3. Psychiatric adult-onset of urea cycle disorders: A case-series

Author: Adrien Bigot, Paul Brunault, Christian Lavigne, François Feillet, Sylvie Odent, Elsa Kaphan, Christel Thauvin, Vanessa Leguy, Pierre Broué, Michel C. Tchan, and François Maillot
Subjects: Urea cycle disorders, Ornithine transcarbamylase deficiency, Hyperammonemia, Valproate, Psychiatric decompensations, Late-onset, Adults, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract: Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs could suggest this diagnosis in such a situation, and to determine which tests should be conducted. A survey of psychiatric symptoms occurring in teenagers or adults with UCD was conducted in 2010 among clinicians involved in the French society for the study of inborn errors of metabolism (SFEIM). Fourteen patients from 14 to 57 years old were reported. Agitation was reported in 10 cases, perseveration in 5, delirium in 4, and disinhibition in 3 cases. Three patients had pre-existing psychiatric symptoms. All patients had neurological symptoms associated with psychiatric symptoms, such as ataxia or dysmetria, psychomotor slowing, seizures, or hallucinations. Fluctuations of consciousness and coma were reported in 9 cases. Digestive symptoms were reported in 7 cases. 9 patients had a personal history suggestive of UCD. The differential diagnoses most frequently considered were exogenous intoxication, non-convulsive status epilepticus, and meningoencephalitis. Hyperammonemia (180–600 μmol/L) was found in all patients. The outcome was severe: mechanical ventilation was required in 10 patients, 5 patients died, and only 4 patients survived without sequelae. Adult onset UCDs can present with predominant psychiatric symptoms, associated with neurological involvement. These patients, as well as patients presenting with a suspicion of intoxication, must have UCD considered and ammonia measured without delay.
Published: 2017
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4. Neurologic Disorders and Hepatitis E, France, 2010

Author: Laura-Anne Despierres, Elsa Kaphan, Shahram Attarian, Stephan Cohen-Bacrie, Jean Pelletier, Jean Pouget, Anne Motte, Rémi N. Charrel, René Gerolami, and Philippe Colson
Subjects: Acute hepatitis E, hepatitis E virus, neurologic symptoms, meningitis, polyradiculoneuropathy, France, Medicine, Infectious and parasitic diseases, RC109-216
Abstract: We report meningitis with diffuse neuralgic pain or polyradiculoneuropathy associated with PCR-documented acute hepatitis E in 2 adults. These observations suggest that diagnostic testing for hepatitis E virus should be conducted for patients who have neurologic symptoms and liver cytolysis.
Published: 2011
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5. Correction to: [18F]FDG brain PET findings in CLIPPERS at diagnosis and therapeutic follow-up

Author: Tatiana Horowitz, Elsa Kaphan, Eric Guedj, Service de médecine nucléaire [Marseille], Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Européen de Recherche en Imagerie médicale (CERIMED), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-École Centrale de Marseille (ECM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Centre National de la Recherche Scientifique (CNRS), Imagerie MOléculaire pour applications THéranostiques personnalisées (IMOTHEP), Institut FRESNEL (FRESNEL), and Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: Radiology, Nuclear Medicine and imaging, General Medicine, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience
Published: 2022
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6. Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability

Author: Samira Ait-El-Mkadem Saadi, Elsa Kaphan, Amaya Morales Jaurrieta, Konstantina Fragaki, Annabelle Chaussenot, Sylvie Bannwarth, André Maues De Paula, Véronique Paquis-Flucklinger, and Cécile Rouzier
Subjects: Phenotype, RNA Splicing, Aspartate-tRNA Ligase, Mutation, Exome Sequencing, Genetics, Humans, General Medicine, Genetics (clinical)
Abstract: Biallelic rare variants in NARS2 that encode the mitochondrial asparaginyl-tRNA synthetase are associated with a wide spectrum of clinical phenotypes ranging from severe neurodegenerative disorders to isolated mitochondrial myopathy or deafness. To date, only a small number of patients with NARS2 variants have been reported, and possible genotype-phenotype correlations are still lacking. Here, we present three siblings who had an early-onset hearing loss, while one developed severe symptoms in adulthood associated with early intellectual impairment, refractory seizures, moderate axonal sensorimotor neuropathy, and atypical psychiatric symptoms. Biochemical analysis revealed impairment of the activity and assembly of the respiratory chain complexes in this patient's muscle and fibroblasts. Whole Exome Sequencing allowed identification of a heterozygous variant NM_024678.5(NARS2):c.822G C (p.Gln274His) that is known to be pathogenic and to affect splicing of the NARS2 gene, but was unable to detect a second variant in this gene. Coverage analysis and Sanger sequencing led to identification of a novel intronic deletion NM_024678.5(NARS2):c.922-21_922-19del in the three siblings in trans with the c.822G C. Functional analysis by RT-PCR showed that this deletion was causing aberrant splicing and led to exon 9 skipping in NARS2 mRNA in patient fibroblasts. Our work expands the phenotype and genotype spectrum of NARS2-related disorders. We provide evidence of the pathogenic effect of a novel intronic deletion in the NARS2 gene and report on additional adult patients with a large intrafamilial variability associated with splice variants in this gene. More specifically, we detail the phenotype of the oldest living patient to date with NARS2 variants and, for the first time, we report the psychiatric symptoms associated with this gene. Our work confirms the complexity of genotype-phenotype correlation in patients with pathogenic NARS2 variants.
Published: 2022

7. [18F]FDG brain PET findings in CLIPPERS at diagnosis and therapeutic follow-up

Author: Tatiana Horowitz, Elsa Kaphan, Eric Guedj, Institut FRESNEL (FRESNEL), Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS), Centre Européen de Recherche en Imagerie médicale (CERIMED), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-École Centrale de Marseille (ECM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Imagerie MOléculaire pour applications THéranostiques personnalisées (IMOTHEP), and Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Radiology, Nuclear Medicine and imaging, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], General Medicine, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience
Published: 2022
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8. Herpetic encephalitis: which treatment for which body weight?

Author: Marine Mulatero, Mohamed Boucekine, Olivier Felician, Salah Boussen, Gilles Kaplanski, Pascal Rossi, Philippe Parola, Andréas Stein, Philippe Brouqui, Jean Christophe Lagier, Marc Leone, Elsa Kaphan, Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Aix Marseille Université (AMU), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'anesthésie et de réanimation [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de Biomécanique Appliquée (LBA UMR T24), Aix Marseille Université (AMU)-Université Gustave Eiffel, Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Vecteurs - Infections tropicales et méditerranéennes (VITROME), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut de Recherche Biomédicale des Armées [Brétigny-sur-Orge] (IRBA), Institut Hospitalier Universitaire Méditerranée Infection (IHU Marseille), Microbes évolution phylogénie et infections (MEPHI), and Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, Body Weight, Acyclovir, Antiviral Agents, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, Neurology, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Disease Progression, Humans, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, Encephalitis, Herpes Simplex, Neurology (clinical), ComputingMilieux_MISCELLANEOUS, Retrospective Studies
Abstract: Prognosis of herpetic encephalitis remains severe, with a high proportion of deaths and sequelae. Its treatment is based on acyclovir, but the precise and most effective modalities of this treatment are not established. The objective of this study was to determine them.For this, we carried out a descriptive, retrospective, monocentric study, using the current coding database at Marseille University Hospitals. Cohort was intended to be exhaustive for the disease, from January 2000 to June 2019, including patients hospitalized in intensive care and conventional hospitalization sector. Patients (n = 76) included were at least 16 years of age and had a clinical presentation, cerebral Magnetic Resonance Imaging, and/or electroencephalogram abnormalities consistent with herpetic encephalitis confirmed by a positive HSV-PCR in the CSF. Clinical data and treatment, including the doses actually administered to the patient, were compared according to patient's outcome.The mortality rate was 12%, whereas 49% had complete recovery and 39% sequelae impeding independence. Poor outcome was statistically associated with persistence of confusion, aphasia, and impaired consciousness lasting more than 5 days, superinfection, status epilepticus, and length of stay in intensive care unit. A statistical decision tree, constructed using the Classification And Regression Tree model, to prioritize treatment management, showed two main factors that influence the outcome: the patient's weight, and the average daily acyclovir dose actually administered.These results suggest to modify acyclovir management in herpetic encephalitis, for low-weight patients ( 79 kg) with a minimum dosage of 2550 mg/day (850 mg/ 8 h), when possible.
Published: 2022
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9. Persistent IgG anticardiolipin autoantibodies are associated with post-COVID syndrome

Author: Alexandre Brodovitch, Benjamin Babacci, Elsa Kaphan, Nathalie Bardin, J.L. Mège, Robin Arcani, Daniel Bertin, Samuel Weber, Benoit Faucher, Amélie Menard, Institut Hospitalier Universitaire Méditerranée Infection (IHU Marseille), Microbes évolution phylogénie et infections (MEPHI), and Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Microbiology (medical), Nervous system, Coronavirus disease 2019 (COVID-19), anticardiolipin antibodies, Infectious and parasitic diseases, RC109-216, Article, Immunoglobulin G, Virus, Persistence (computer science), [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, long COVID syndrome, Medicine, Eosinopenia, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, biology, business.industry, antiphospholipid antibodies, Autoantibody, COVID-19, post-COVID syndrome, General Medicine, medicine.disease, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, Pathophysiology, Infectious Diseases, medicine.anatomical_structure, Immunology, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, biology.protein, business
Abstract: Persistence of various symptoms in patients who have recovered from coronavirus disease 2019 (COVID-19) was recently defined as ‘long COVID’ or ‘post-COVID syndrome’ (PCS). This article reports a case of a 58-year-old woman who, although recovering from COVID-19, had novel and persistent symptoms including neurological complications that could not be explained by any cause other than PCS. In addition to a low inflammatory response, persistence of immunoglobulin G anticardiolipin autoantibody positivity and eosinopenia were found 1 year after acute COVID-19 infection, both of which have been defined previously as independent factors associated with the severity of COVID-19. The pathophysiological mechanism of PCS is unknown, but the possibility of persistence of the virus, especially in the nervous system, could be suggested with a post-infectious inflammatory or autoimmune reaction.
Published: 2021
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10. Case 21: Psychiatric Presentation of Anti-N-Methyl-d-Aspartate Receptor (NMDAR) Limbic Encephalitis

Author: Tatiana Horowitz, Elsa Kaphan, and Eric Guedj
Subjects: D aspartate, business.industry, Limbic encephalitis, Medicine, NMDA receptor, Presentation (obstetrics), business, Receptor, medicine.disease, Neuroscience
Published: 2021
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11. Case 22: Hashimoto Encephalitis

Author: Elsa Kaphan, Tatiana Horowitz, and Eric Guedj
Subjects: business.industry, Medicine, business, medicine.disease, Virology, Encephalitis
Published: 2021
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12. Late-Onset Progressive Multifocal Leukoencephalopathy (PML) and Lymphoma in a 65-Year-Old Patient with XIAP Deficiency

Author: Thérèse Aurran, B. Meunier, Frédéric Vély, Nadine Cerf-Bensussan, J. Seguier, Capucine Picard, Elsa Kaphan, Nicolas Schleinitz, Antoine Briantais, Zineb Sbihi, Sylvain Latour, Benjamin De Sainte Marie, Mikael Ebbo, S Coze, Vincent Barlogis, Hôpital de la Timone [CHU - APHM] (TIMONE), Aix Marseille Université (AMU), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Hôpital Nord [CHU - APHM], Lymphocyte activation and susceptibility to EBV (Equpie Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Laboratory of Intestinal Immunity (Equipe Inserm U1163), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], LATOUR, Sylvain, Activation lymphocytaire et susceptibilité au virus d’Epstein-Barr = Lymphocyte activation and susceptibility to EBV, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)
Subjects: Pathology, medicine.medical_specialty, business.industry, Progressive multifocal leukoencephalopathy, [SDV]Life Sciences [q-bio], Immunology, Late onset, 030204 cardiovascular system & hematology, medicine.disease, 3. Good health, Lymphoma, [SDV] Life Sciences [q-bio], 03 medical and health sciences, 0302 clinical medicine, medicine, Immunology and Allergy, XIAP Deficiency, 030212 general & internal medicine, business, ComputingMilieux_MISCELLANEOUS
Abstract: International audience; No abstract available
Published: 2021
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13. Contribution of Otoacoustic Emissions for Diagnosis of Atypical or Recurrent Intracranial Hypotension. A Cases Series

Author: Anne Donnet, Elsa Kaphan, Sylvain Redon, and Maya Elzière
Subjects: Adult, Male, Supine position, Distortion product, Otoacoustic Emissions, Spontaneous, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, medicine, Humans, 030212 general & internal medicine, Intracranial Hypotension, Intracranial pressure, medicine.diagnostic_test, Lumbar puncture, business.industry, Middle Aged, medicine.disease, Neurology, Anesthesia, Female, sense organs, Neurology (clinical), Intracranial Hypertension, Abnormal results, business, 030217 neurology & neurosurgery, Orthostatic headache
Abstract: Background The diagnosis of spontaneous or post-traumatic intracranial hypotension mainly rely on clinical features and neuroimaging. In atypical presentations, other non-invasive tests are missing to support the diagnosis of intracranial hypotension. The assessment of otoacoustic emissions (OAE) shown interest to monitor intracranial pressure mainly in cases of intracranial hypertension. This non-invasive method was also assessed in response to pressure change after lumbar puncture. A few reports showed abnormal results of distortion product otoacoustic emissions (DPOAE) in cases of spontaneous or post-traumatic intracranial hypotension. We describe additional results in a series of intracranial hypotension cases. We discuss the interest of DPOAE assessment in atypical presentations of intracranial hypotension. We review the other non-invasive tests reported in literature. Methods We studied 4 atypical or recurrent cases of spontaneous or post-traumatic intracranial hypotension by recording OAE in sitting then supine position. Results Unilateral or bilateral abnormal changes of DPOAE were recorded in all cases, in response to postural test. These changes were present even in the absence of vestibular symptoms. Conclusion The study of OAE may be a non-invasive tool for the diagnosis of spontaneous intracranial hypotension.
Published: 2019
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14. Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients

Author: Christian Lavigne, Lena Damaj, Esther Noel, François Maillot, Sybill Charriere, Adrien Bigot, Vincent Rigalleau, Claire Douillard, Fanny Mochel, Elsa Kaphan, Ségolène Toquet, Amélie Servettaz, Samir Mesli, Gérard Besson, Roselyne Garnotel, Caroline Moreau, Agathe Roubertie, Sylvie Odent, Isabelle Redonnet-Vernhet, Jean Baptiste Arnoux, Marta Spodenkiewicz, Aude Servais, Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Bordeaux population health (BPH), and Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Adult, Male, Ornithine, Pediatrics, medicine.medical_specialty, Adolescent, Argininosuccinic Aciduria, Context (language use), Inherited metabolic diseases, Urea cycle disorders, 03 medical and health sciences, Young Adult, Sex Factors, Intensive care, Genetics, Medicine, Adults, Humans, Hyperammonemia, Decompensation, Family history, Age of Onset, Urea Cycle Disorders, Inborn, Genetics (clinical), 030304 developmental biology, Aged, Retrospective Studies, Coma, Aged, 80 and over, 0303 health sciences, biology, business.industry, 030305 genetics & heredity, Middle Aged, medicine.disease, 3. Good health, Ornithine Carbamoyltransferase Deficiency Disease, Citrin, Argininosuccinic aciduria, Late-onset diagnosis, Cohort, biology.protein, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Female, France, medicine.symptom, business
Abstract: BACKGROUND: Urea cycle disorders (UCD) are rare diseases that usually affect neonates or young children. During decompensations, hyperammonemia is neurotoxic, leading to severe symptoms and even coma and death if not treated rapidly. AIMS: Description of a cohort of patients with adult onset of UCDs. METHODS: Multicentric, retrospective and descriptive study of French adult patients with a diagnosis after 16 years of age of UCDs due to a deficiency in one of the 6 enzymes (arginase, ASL, ASS, CPS1, NAGS, OTC) or the two transporters (ORNT1 or citrin). RESULTS: Seventy-one patients were included (68% female, 32% male). The diagnosis was made in the context of (i) a metabolic decompensation (42%), (ii) family history (55%), or (iii) chronic symptoms (3%). The median age at diagnosis was 33 years (range 16-86). Eighty-nine percent of patients were diagnosed with OTC deficiency, 7% CPS1 deficiency, 3% HHH syndrome and 1% argininosuccinic aciduria. For those diagnosed during decompensations (including 23 OTC cases, mostly female), 89% required an admission in intensive care units. Seven deaths were attributed to UCD - 6 decompensations and 1 epilepsy secondary to inaugural decompensation. CONCLUSION: This is the largest cohort of UCDs diagnosed in adulthood, which confirms the triad of neurological, gastrointestinal and psychiatric symptoms during hyperammonemic decompensations. We stress that females with OTC deficiency can be symptomatic. With 10% of deaths in this cohort, UCDs in adults remain a life-threatening condition. Physicians working in adult care must be aware of late-onset presentations given the implications for patients and their families. This article is protected by copyright. All rights reserved.
Published: 2021
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15. From early limbic inflammation to long COVID sequelae

Author: Eric Guedj, Serge Cammilleri, Elsa Kaphan, Mathieu Ceccaldi, Silvia Morbelli, Flavio Nobili, Pierre Dudouet, Carole Eldin, Jacques-Yves Campion, Imagerie MOléculaire pour applications THéranostiques personnalisées (IMOTHEP), Institut FRESNEL (FRESNEL), Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Vecteurs - Infections tropicales et méditerranéennes (VITROME), and Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut de Recherche Biomédicale des Armées [Brétigny-sur-Orge] (IRBA)
Subjects: Inflammation, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), business.industry, SARS-CoV-2, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), [SDV]Life Sciences [q-bio], COVID-19, Post-Acute COVID-19 Syndrome, Immunology, Disease Progression, Medicine, Humans, Neurology (clinical), medicine.symptom, business, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2021
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16. Decrease in the Cortex/striatum Metabolic Ratio on 18F-FDG PET: a Biomarker of Dysimmune Encephalitis

Author: Nicolas De Leiris, Berengere Ruel, Jean Vervandier, José Boucraut, Stephan Grimaldi, Tatiana Horowitz, Jean Pelletier, Frederique Fluchere, Elsa Kaphan, and Eric Guedj
Abstract: Purpose: The aim was to determine the diagnostic value of the cortex/striatum metabolic ratio in 18F-FDG PET in a large cohort of patients suffering from dysimmune encephalitis (DE) and to search for clinical correlations with the course of the disease.Methods: We retrospectively collected complete clinical and paraclinical data of DE patients, including brain 18F-FDG PET/CT. Whole-brain statistical analysis was performed using SPM8 software after activity parametrization to the striatum and in comparison to healthy subjects. Conventional discriminant analysis between the DE group and controls was performed using cluster metabolic ratios. A correlation analysis between cluster metabolic ratios and clinical/paraclinical data was assessed.Results: Seventy-three patients with DE were included. In comparison to 44 controls, voxel-based statistical analysis identified one large cluster (p-voxel < 0.001 uncorrected; p-clusterConclusion: The decrease in the cortex/striatal metabolic ratio has a good diagnostic performance for the differentiation of DE patients from controls and seems to provide prognostic information on the clinical course.
Published: 2021
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17. Decrease in the cortex/striatum metabolic ratio on [

Author: Nicolas, De Leiris, Berangère, Ruel, Jean, Vervandier, José, Boucraut, Stephan, Grimaldi, Tatiana, Horowitz, Jean, Pelletier, Frederique, Fluchere, Jacques-Yves, Campion, Elsa, Kaphan, and Eric, Guedj
Subjects: Fluorodeoxyglucose F18, Positron Emission Tomography Computed Tomography, Positron-Emission Tomography, Encephalitis, Humans, Radiopharmaceuticals, Biomarkers, Retrospective Studies
Abstract: The aim of this [We retrospectively collected clinical and paraclinical data of patients with AE, including brainFifty-six patients with AE were included. In comparison to healthy subjects, voxel-based statistical analysis identified one large cluster (p-cluster 0.05, FWE corrected) of widespread decreased cortex/striatum ratio in patients with AE. The mean metabolic ratio was significantly lower for AE patients (1.16 ± 0.13) than that for healthy subjects (1.39 ± 0.08; p 0.001) and than that for MCI patients (1.32 ± 0.11; p 0.001). A ratio threshold of 1.23 allowed to detect AE patients with a sensitivity of 71% and a specificity of 82% against MCI patients, and 98% against healthy subjects. A lower cortex/striatum metabolic ratio had a trend towards shorter delay beforeThe decrease in the cortex/striatal metabolic ratio has a good early diagnostic performance for the differentiation of AE patients from controls.
Published: 2021

18. 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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19. 18F-FDG brain PET hypometabolism in patients with long COVID

Author: Paul Habert, Didier Raoult, Hervé Tissot-Dupont, Eric Guedj, F. Barthelemy, Matthieu Million, Jacques-Yves Campion, Mathieu Ceccaldi, Serge Cammilleri, Elsa Kaphan, S. Guis, Fabienne Brégeon, Pierre Dudouet, Carole Eldin, Centre Européen de Recherche en Imagerie médicale (CERIMED), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-École Centrale de Marseille (ECM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Centre National de la Recherche Scientifique (CNRS), Microbes évolution phylogénie et infections (MEPHI), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU), Institut Hospitalier Universitaire Méditerranée Infection (IHU Marseille), Service de Neurologie, Hôpital de la Timone, 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), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagerie MOléculaire pour applications THéranostiques personnalisées (IMOTHEP), Institut FRESNEL (FRESNEL), Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Imagerie Interventionnelle Expérimentale (LIIE), Vecteurs - Infections tropicales et méditerranéennes (VITROME), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut de Recherche Biomédicale des Armées [Brétigny-sur-Orge] (IRBA), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut de Recherche Biomédicale des Armées (IRBA), COMBE, Isabelle, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)
Subjects: Hippocampus, Paralimbic cortex, Gastroenterology, 030218 nuclear medicine & medical imaging, 0302 clinical medicine, Hyposmia, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Fatigue, ComputingMilieux_MISCELLANEOUS, Complaints, [SDV.MP.VIR] Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.MHEP.ME] Life Sciences [q-bio]/Human health and pathology/Emerging diseases, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, Brain, General Medicine, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, 3. Good health, Nasal decongestant, medicine.anatomical_structure, Radiology Nuclear Medicine and imaging, 030220 oncology & carcinogenesis, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Original Article, medicine.symptom, [SDV.MP.PAR] Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, medicine.medical_specialty, Long COVID, Anosmia, Orbital gyri, Context (language use), Stress, 03 medical and health sciences, Post-Acute COVID-19 Syndrome, Angiotensin-converting enzyme, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Memory, Fluorodeoxyglucose F18, Internal medicine, medicine, Humans, Radiology, Nuclear Medicine and imaging, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, Olfactory Region, SARS-CoV-2, business.industry, COVID-19, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, Dysautonomia, 18F-FDG, PET, Positron-Emission Tomography, [SDV.MP.BAC] Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, business
Abstract: Purpose In the context of the worldwide outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), some patients report functional complaints after apparent recovery from COVID-19. This clinical presentation has been referred as “long COVID.” We here present a retrospective analysis of 18F-FDG brain PET of long COVID patients from the same center with a biologically confirmed diagnosis of SARS-CoV-2 infection and persistent functional complaints at least 3 weeks after the initial infection. Methods PET scans of 35 patients with long COVID were compared using whole-brain voxel-based analysis to a local database of 44 healthy subjects controlled for age and sex to characterize cerebral hypometabolism. The individual relevance of this metabolic profile was evaluated to classify patients and healthy subjects. Finally, the PET abnormalities were exploratory compared with the patients’ characteristics and functional complaints. Results In comparison to healthy subjects, patients with long COVID exhibited bilateral hypometabolism in the bilateral rectal/orbital gyrus, including the olfactory gyrus; the right temporal lobe, including the amygdala and the hippocampus, extending to the right thalamus; the bilateral pons/medulla brainstem; the bilateral cerebellum (p-voxel
Published: 2021
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20. High 18F-FDOPA PET Uptake in Primary Central Nervous System Lymphoma

Author: Elicia Molines, Eric Guedj, Gilles Brun, Betty Salgues, Elsa Kaphan, Service de médecine nucléaire [Marseille], Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Européen de Recherche en Imagerie médicale (CERIMED), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-École Centrale de Marseille (ECM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Centre National de la Recherche Scientifique (CNRS), Imagerie MOléculaire pour applications THéranostiques personnalisées (IMOTHEP), Institut FRESNEL (FRESNEL), Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE), and Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: Adult, Male, Diagnostic accuracy, 030218 nuclear medicine & medical imaging, Central Nervous System Neoplasms, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, 18f fdopa, hemic and lymphatic diseases, primary central nervous system lymphoma (Clin Nucl Med 2021, medicine, Humans, Radiology, Nuclear Medicine and imaging, 46: e59-e60), ComputingMilieux_MISCELLANEOUS, AMINO ACID TRANSPORTER 1, medicine.diagnostic_test, primary central nervous system lymphoma, business.industry, 18 F-FDOPA PET, Lymphoma, Non-Hodgkin, Primary central nervous system lymphoma, Transporter, Biological Transport, General Medicine, medicine.disease, LAT1, 3. Good health, Lymphoma, Dihydroxyphenylalanine, 18F-FDOPA PET, Positron emission tomography, 030220 oncology & carcinogenesis, Positron-Emission Tomography, Cancer research, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: We present a 42-year-old woman with primary central nervous system lymphoma (PCNSL) and strong F-FDOPA PET uptake. F-FDOPA PET has high diagnostic accuracy in gliomas and brain metastases. The L-type amino acid transporter 1, targeted by F-FDOPA and C-MET PET, is a cell-type transporter usually upregulated in malignant tumors, including PCNSL. In this line, strong uptake was already shown with C-MET in PCNSL. We report the same findings with F-FDOPA. Consequently, PCNSL is a possible differential neoplastic diagnosis of F-FDOPA uptake among neoplastic lesions.
Published: 2020
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21. Psychiatric adult-onset of urea cycle disorders: A case-series

Author: François Maillot, Pierre Broué, Christian Lavigne, Paul Brunault, Christel Thauvin, Vanessa Leguy, Sylvie Odent, Adrien Bigot, François Feillet, Elsa Kaphan, and Michel Tchan
Subjects: 0301 basic medicine, medicine.medical_specialty, Ataxia, Perseveration, Late onset, Status epilepticus, Late-onset, 030105 genetics & heredity, Urea cycle disorders, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Ornithine transcarbamylase deficiency, Genetics, medicine, Hyperammonemia, Psychiatric decompensations, Adults, Psychiatry, lcsh:QH301-705.5, Molecular Biology, Psychomotor learning, Coma, lcsh:R5-920, Valproate, business.industry, medicine.disease, lcsh:Biology (General), Delirium, medicine.symptom, lcsh:Medicine (General), business, 030217 neurology & neurosurgery, Research Paper
Abstract: Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs could suggest this diagnosis in such a situation, and to determine which tests should be conducted. A survey of psychiatric symptoms occurring in teenagers or adults with UCD was conducted in 2010 among clinicians involved in the French society for the study of inborn errors of metabolism (SFEIM). Fourteen patients from 14 to 57 years old were reported. Agitation was reported in 10 cases, perseveration in 5, delirium in 4, and disinhibition in 3 cases. Three patients had pre-existing psychiatric symptoms. All patients had neurological symptoms associated with psychiatric symptoms, such as ataxia or dysmetria, psychomotor slowing, seizures, or hallucinations. Fluctuations of consciousness and coma were reported in 9 cases. Digestive symptoms were reported in 7 cases. 9 patients had a personal history suggestive of UCD. The differential diagnoses most frequently considered were exogenous intoxication, non-convulsive status epilepticus, and meningoencephalitis. Hyperammonemia (180–600 μmol/L) was found in all patients. The outcome was severe: mechanical ventilation was required in 10 patients, 5 patients died, and only 4 patients survived without sequelae. Adult onset UCDs can present with predominant psychiatric symptoms, associated with neurological involvement. These patients, as well as patients presenting with a suspicion of intoxication, must have UCD considered and ammonia measured without delay.
Published: 2017
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22. Leucoencéphalopathie multifocale progressive : complication tardive d’un déficit monogénique de type XIAP ?

Author: Jean-Robert Harlé, B. Meunier, B. De Sainte Marie, A. Coulon, Benoit Faucher, T. Aurran-Schleinitz, Elsa Kaphan, Antoine Briantais, J. Seguier, Vincent Barlogis, M. Ebbo, and Nicolas Schleinitz
Subjects: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Gastroenterology, Internal Medicine, 030215 immunology
Abstract: Introduction Le syndrome lymphoproliferatiflie a l’X de type 2 (XLP-2), est un deficit immunitaire primitif cause par une mutation du gene XIAP, implique dans l’apoptose. Sa prevalence est inferieure a 1/1 000 000. Il est associe a un mauvais controle de l’infection a EBV et peut se compliquer de syndrome d’activation macrophagique. L’expression phenotypique est heterogene : parfois asymptomatique mais souvent associe a des symptomes evocateurs de maladies inflammatoires chroniques de l’intestin [1] , [2] . Nous rapportons un cas de leucoencephalopathie multifocale progressive (LEMP) survenu chez un patient XIAP a l’âge de 69 ans. Observation Un homme de 69 ans presente des signes deficitaires neurologiques d’aggravation lentement progressive. Il est suivi depuis plusieurs annees pour une mutation XIAP identifiee lors d’une enquete familiale autour de deux cas pediatriques (deux petits-fils). Il n’a pas de manifestation digestive et n’a jamais presente de complication infectieuse notable malgre une hypogammaglobulinemie severe (IgG 2,80 g/L). La PCR EBV est negative a plusieurs reprises durant le suivi et la serologie est positive en IgG. L’IRM cerebrale montre des lesions (hypersignaux T2 et FLAIR de la substance blanche) compatibles avec une LEMP ou un lymphome cerebral. Le phenotypage des lymphocytes B circulants montre une clonalite CD23+ FMC7+ C D22+ CD79b+ CD5− (score de Matutes = 2), et le myelogramme un envahissement medullaire lymphomateux modere. La ponction lombaire ne retrouve pas de cellules anormales, le rapport IL-6/IL-10 est normal, le bilan infectieux comprenant une PCR JC virus (sang et le LCR) est negatif. La TEP-TDM montre une hepatosplenomegalie et des adenopathies sous- et sus-diaphragmatique hypermetaboliques. Une chimiotherapie est debutee pour une presomption de lymphome cerebral sans possibilite de documentation histologique au niveau du S N C. L’etat clinique du patient s’aggrave malgre une premiere cure : une reevaluation est realisee et retrouve une positivite des PCR sang et LCR pour le JC virus. Le patient recoit alors du pembrolizumab (2 mg/kg tous les 15 jours), sans reponse clinique ou radiologique objective. Le traitement est interrompu apres deux injections. Le patient decede rapidement. Discussion Il s’agit, a notre connaissance, du premier cas rapporte de LEMP compliquant un syndrome XLP-2. La mise en place d’une immunotherapie n’a pas permis de controler l’evolution de la maladie. Conclusion La LEMP est une complication associee au syndrome XLP-2.
Published: 2020
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23. COVID-19—White matter and globus pallidum lesions

Author: Jean François Hak, Nadine Girard, Elsa Kaphan, Julien Carvelli, Jan Patrick Stellmann, Gilles Brun, and S Coze
Subjects: Vasculitis, Pathology, medicine.medical_specialty, viruses, Pneumonia, Viral, Cribriform plate, Globus Pallidus, Nervous System Malformations, medicine.disease_cause, White matter, Betacoronavirus, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Pandemics, Clinical/Scientific Notes, Coronavirus, SARS-CoV-2, business.industry, COVID-19, Middle Aged, medicine.disease, White Matter, 3. Good health, Olfactory bulb, Pneumonia, Lymphatic system, medicine.anatomical_structure, Globus pallidus, Neurology, Female, Neurology (clinical), Coronavirus Infections, business, 030217 neurology & neurosurgery, Demyelinating Diseases
Abstract: Since December 2019, a novel coronavirus, also called severe acute respiratory syndrome CoV-2 (SARS-CoV-2), emerged in Wuhan, China, and caused a pandemic disease (COVID-19). Respiratory impairment is the most common symptom in patients with confirmed COVID-19; however, neurologic symptoms were documented in approximately 36%, including headache, disturbed consciousness, and paresthesia.1 The virus can take different pathways to involve the CNS: in one way through hematogenous or lymphatic route and in another way via the cribriform plate close to the olfactory bulb. Very few studies have shown CNS abnormalities related to COVID-19 on MRI. Herein, we report a case of SARS-CoV-2 brain lesions suggesting an acute demyelination.
Published: 2020
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24. Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

Author: Foudil Lamari, Bénédicte Héron, Caroline Tilikete, Elsa Kaphan, Marie T. Vanier, Chloé Laurencin, Philippe Latour, Ana Lucia Hütter-Moncada, Bertrand Audoin, Emmanuel Roze, Cyril Goizet, Yann Nadjar, Thierry Dubard De Gaillarbois, Christine Tranchant, Mathieu Anheim, Adrian Degardin, Vincent Deramecourt, Pascal Cintas, Lionel Martzolff, Xavier Ayrignac, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Department of Pediatrics, Helios Clinic Sangerhausen, Sangerhausen, Neurologic/Cardiologic Diseases Unit, Lyon East Biochemistry/Molecular Biology Department, CBPE,Hospices Civils de Lyon, Lyon, Department of Neurology, Montpellier CHU, Gui De Chauliac Hospital, Montpellier, Clinical Neurosciences, Timone CHU, Marseille Hospital, Marseille, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institute of Genetics and Molecular and Cellular Biology (IGBMC), INSERM-U964, Strasbourg University, Illkirch, Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg, Service Médecine physique et de réadaptation [CHU Toulouse], Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Santé publique et médecine publique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Department of Neurology and Movement Disorders, Roger Salengro Hospital, Lille, Centre de Référence Neurogénétique, Service de Génétique, Hôpital Pellegrin, University Hospital of Bordeaux, Laboratoire MRGM, INSERM U1211, University of Bordeaux, Bordeaux, Department of Neurology, Pierre-Wertheimer Hospital, Civilian Hospices of Lyon, Lyon, Department of Internal Medicine, Hôpital Emile Muller, Mulhouse and South Alsace Regional Hospital Group, Mulhouse, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Integrative Multisensory Perception, Action and Cognition (IMPACT), 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)-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), Department of Neurology, Hautepierre Hospital, Strasbourg, AP-HM, CHU Timone, Pole de Neurosciences Cliniques, Department of Neurology, Marseille, France., 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 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), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), St André Clinic, Reims, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), GRC Neurométabolisme, Sorbonne Université (SU), INSERM U820, Lyon, Laboratoire Gillet-Mérieux, CBPE, Hospices Civils de Lyon, Lyon, Reference Centre for Lysosomal Diseases (CRML), Department of Pediatric Neurology, Paris, CHU Trousseau [APHP], Department of Neurology, Reference Center for Lysosomal Diseases (CRLM), UF Neuro-Genetics and Metabolism, Hôpital Pitié-Salpêtrière, Paris, Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - AP-HM] (CEMEREM), and RANJEVA, Jean-Philippe
Subjects: Male, 0301 basic medicine, Pediatrics, Epidemiology, lcsh:Medicine, Disease, 0302 clinical medicine, Niemann-pick disease type C, Miglustat, Pharmacology (medical), Enzyme Inhibitors, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Dystonia, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, Niemann-Pick Disease, Type C, General Medicine, Middle Aged, Cohort, Female, France, medicine.symptom, Safety, medicine.drug, Adult, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, Efficacy, Physical examination, Young Adult, 03 medical and health sciences, medicine, Humans, Aged, Retrospective Studies, Niemann–Pick disease, type C, Cerebellar ataxia, business.industry, Research, lcsh:R, medicine.disease, Adult-onset, 030104 developmental biology, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Background Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the effect of miglustat treatment are described in the largest cohort of patients with adolescent/adult-onset NP-C studied to date. Methods Observational study based on clinical chart data from adult patients with NP-C (> 18 year old) diagnosed in France between 1990 and 2015. Retrospective data from patients at diagnosis, onset of miglustat therapy (if applicable), and last follow up were analysed. Results In France, patients with an adolescent-adult neurological form constituted approximately 25% of all NP-C cases diagnosed during the study period. Forty-seven patients (46 with NP-C1 and one with NP-C2; 53% female) were included. Mean ± SD (range) ages at neurological onset and diagnosis were 23.9 ± 12.5 (8–56) years and 34 ± 13.5 (15–65) years, respectively. At presentation, patients mainly had 1) impaired gait due to cerebellar ataxia and/or dystonia, 2) and/or cognitive/behavioural manifestations, 3) and/or psychotic signs. Initially, almost half of patients had only one of the above three neuro-psychiatric manifestations. Vertical supranuclear gaze palsy, usually occurring without patient complaint, was only detected on careful clinical examination and was recorded in most patients (93%) at the time of diagnosis, several years after neurological onset. Thirty-seven patients (79%) received miglustat, among whom seventeen (46%) continued beyond 2 years (at last follow up) to a maximum of 9.8 years. Eight patients (22%) discontinued treatment early due to side effects (n = 3) or perceived lack of efficacy (n = 5).Miglustat treatment duration correlated significantly with reduced neurological worsening (p
Published: 2018
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25. Clinical presentation, treatment and outcome of IgG4-related pachymeningitis: From a national case registry and literature review

Author: Jean Robert Harlé, Fabienne Closs-Prophette, J. Seguier, Emmanuelle Bernit, Mikael Ebbo, Alexis Régent, Nadine Girard, Mohamed Hamidou, Elsa Kaphan, Laurent Saillier, Laurent Daniel, Pierre-Hugues Roche, Clemence Boutiere, Constance Guillaud, Aurélie Grados, Cléa Melenotte, Delphine Feyeux, Arsène Mekinian, Bertrand Audoin, Henry Dufour, Nathalie Tieulie, Thomas Graillon, Nicolas Schleinitz, 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), Radiologie pédiatrique et prénatale [Hôpital de la Timone - APHM], and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: medicine.medical_specialty, Autoimmunity, Disease, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, parasitic diseases, clin, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Medicine, Humans, Meningitis, snc, 030212 general & internal medicine, Registries, Pathological, 030203 arthritis & rheumatology, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Disease Management, medicine.disease, Dermatology, Magnetic Resonance Imaging, First line treatment, Anesthesiology and Pain Medicine, Radiological weapon, Etiology, IgG4-related disease, Rituximab, Immunoglobulin G4-Related Disease, Presentation (obstetrics), business, medicine.drug
Abstract: Pachymeningitis is rare, either idiopathic or secondary to inflammatory disorders, after tumoral, surgical or infectious causes have been excluded. The fibroinflammatory IgG4-related disease is one of the etiologies of pachymeningitis with only few cases reported yet. From a single referral regional center, we evaluated the frequency of IgG4-related disease as the cause of inflammatory pachymeningitis in 10% of cases. From a National case registry of IgG4-related disease the pachymeningitis frequency was 4.1%. We report eight new cases with cranial, spinal or both involvements and a literature review of 46 pathological proven cases. We observed that IgG4-related pachymeningitis is in most cases not associated to extra-neurological manifestations of the disease. Only 27% of spinal and 40% of cranial IgG4-related pachymeningitis are associated with other disease localizations. First line treatment strategies included surgery and steroids. The use of immunosuppressants or rituximab was necessary in 18% of spinal and 54% of cranial localizations. Some patients remained with sequellae and clinical and/or radiological improvement can be difficult to obtain.
Published: 2018
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26. Un hypersignal bipallidal

Author: Jean-Robert Harlé, G. Brun, P. Borentain, J. Bertolino, B. Meunier, B. Gutierrez, Nicolas Schleinitz, Elsa Kaphan, and E. Bernit
Subjects: medicine.medical_specialty, Cirrhosis, business.industry, Gastroenterology, Internal Medicine, MEDLINE, medicine, Radiology, medicine.disease, business, Hyperintensity
Published: 2019
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27. Brain 18F-fluorodeoxyglucose positron emission tomography/computed tomography detection of neuropsychiatric lupus with normal cerebral magnetic resonance imaging

Author: Eric Guedj, Mikael Ebbo, Benoit Faucher, Elsa Kaphan, Nicolas Schleinitz, C Soubrier, Benjamin De Sainte Marie, Aix-Marseille Université - Faculté de médecine (AMU MED), Aix Marseille Université (AMU), Service des Maladies Infectieuses et Tropicales [CHU Hôpital Nord - Marseille] (M.I.T), Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital Nord [CHU - APHM], Service Central de Biophysique et de Médecine Nucléaire, Hôpital de la Timone [CHU - APHM] (TIMONE), Imagerie MOléculaire pour applications THéranostiques personnalisées (IMOTHEP), Institut FRESNEL (FRESNEL), Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Médecine Interne [Hôpital Saint-Joseph - Marseille], Aix Marseille Université (AMU)-Hôpital Saint-Joseph [Marseille], Centre de Référence ' Anomalies du Développement et Syndromes Malformatifs Sud - Est PACA ', Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Neuroradiologie [CHU Pitié-Salpêtrière], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Adolescent, Computed tomography, 030218 nuclear medicine & medical imaging, Fluorodeoxyglucose positron emission tomography, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Positron Emission Tomography Computed Tomography, medicine, Brain mri, Humans, Pharmacology (medical), Lupus vasculitis, ComputingMilieux_MISCELLANEOUS, Positron Emission Tomography-Computed Tomography, 030203 arthritis & rheumatology, Systemic lupus erythematosus, medicine.diagnostic_test, business.industry, Lupus Vasculitis, Central Nervous System, Brain, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, 3. Good health, Neuropsychiatric systemic lupus erythematosus, Female, Nuclear medicine, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience
Published: 2019
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28. Évolution électroencéphalographique et imagerie par résonance magnétique nucléaire cérébrale au cours d’une maladie de Creutzfeldt-Jakob sporadique

Author: E. Jean, Marion Delandre, Brigitte Granel, Lisa Vaugier, and Elsa Kaphan
Subjects: business.industry, Medicine, General Medicine, business, Nuclear medicine
Published: 2015
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29. Anti-tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study

Author: Pierre Quartier, Anne Lépine, Virginie Laguitton, Marie-Anne Barthez, Nathalie Villeneuve, Agnès Trébuchon, Bernard Giusiano, Fabrice Bartolomei, Mathieu Milh, Valérie Trommsdorff, Agathe Roubertie, Aileen McGonigal, Christine Bulteau, Stanislas Lagarde, Elsa Kaphan, Didier Scavarda, Samer Wehbi, Vincent des Portes, Jérémie Lefranc, HOPITAL HENRI GASTAUT CENTRE ST PAUL, Hôpital de la Timone [CHU - APHM] ( TIMONE ), Institut de Neurosciences des Systèmes ( INS ), Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Neuro-Oncologie [Hôpital de la Timone - APHM], Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), 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 ), CHRU de Brest - Département de Pédiatrie ( CHU BREST Pédiatrie ), Centre Hospitalier Régional Universitaire de Brest ( CHRU Brest ), Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Service de Neurochirurgie pédiatrique, Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Génétique Médicale et Génomique Fonctionnelle ( GMGF ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), CNRS UMR 8189 'Psychologie et Neurosciences Cognitives', Centre National de la Recherche Scientifique ( CNRS ), Service de Neurochirurgie Pediatrique, Fondation Ophtalmologique Rotschild, Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), 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), CHRU de Brest - Département de Pédiatrie (CHU BREST Pédiatrie), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], and Institut des Neurosciences de Montpellier (INM)
Subjects: 0301 basic medicine, Rasmussen's encephalitis, Adult, Male, medicine.medical_specialty, Adolescent, Anti-Inflammatory Agents, Video Recording, Pilot Projects, Neuropsychological Tests, Statistics, Nonparametric, Cohort Studies, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Atrophy, Internal medicine, medicine, Adalimumab, Humans, Young adult, Child, business.industry, Tumor Necrosis Factor-alpha, [SCCO.NEUR]Cognitive science/Neuroscience, Infant, Electroencephalography, medicine.disease, Pathophysiology, 3. Good health, Surgery, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, [ SCCO.NEUR ] Cognitive science/Neuroscience, Encephalitis, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study, medicine.drug
Abstract: Summary Objective Rasmussen's encephalitis (RE) is a severe chronic inflammatory brain disease affecting one cerebral hemisphere and leading to drug-resistant epilepsy, progressive neurologic deficit, and unilateral brain atrophy. Hemispherotomy remains the gold standard treatment but causes permanent functional impairment. No standardized medical treatment protocol currently exists for patients prior to indication of hemispherotomy, although some immunotherapies have shown partial efficacy with functional preservation but poor antiseizure effect. Some studies suggest a role for tumor necrosis factor alpha (TNF-α) in RE pathophysiology. Methods We report an open-label study evaluating the efficacy and the safety of anti-TNF-α therapy (adalimumab) in 11 patients with RE. The primary outcome criterion was the decrease of seizure frequency. The secondary outcome criteria were neurologic and cognitive outcomes and existence of side effects. Results Adalimumab was introduced with a median delay of 31 months after seizure onset (range 1 month to 16 years), and follow-up was for a median period of 18 months (range 9–54 months). There was a significant seizure frequency decrease after adalimumab administration (from a median of 360 to a median of 32 seizures per quarter, p ≤ 0.01). Statistical analysis showed that adalimumab had a significant intrinsic effect (p < 0.005) independent from disease fluctuations. Five patients (45%) were found to have sustained improvement over consecutive quarters in seizure frequency (decrease of 50%) on adalimumab. Three of these five patients also had no further neurocognitive deterioration. Adalimumab was well tolerated. Significance Our study reports efficacy of adalimumab in terms of seizure frequency control. In addition, stabilization of functional decline occurred in three patients. This efficacy might be particularly relevant for atypical slowly progressive forms of RE, in which hemispherotomy is not clearly indicated. Due to our study limitations, further studies are mandatory to confirm these preliminary results.
Published: 2016
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30. Troubles neuropsychiatriques inexpliqués : penser aux encéphalites dysimmunitaires. À propos d’une observation d’encéphalite à anticorps anti-leucine rich glioma inactivated 1 (LGI-1)

Author: E. Sagui, C. Rey, Eric Guedj, E. Le Dault, C. Brosset, Stanislas Lagarde, M. Bregigeon, B. Dufournet, G. Tanguy, Elsa Kaphan, Service de neurophysiologie clinique [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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 interuniversitaire de recherche et d'ingenierie des matériaux (CIRIMAT), Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées, Département de Recherche sur la Fusion Contrôlée (DRFC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Fédérale Toulouse Midi-Pyrénées-Institut de Chimie du CNRS (INC), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), and Université de Toulouse (UT)
Subjects: 0301 basic medicine, Gynecology, medicine.medical_specialty, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Gastroenterology, Voltage gate potassium channel (VGKC), Facio-brachial dystonic seizures, Spasmes brachio-faciaux, 3. Good health, Leucine rich glioma inactivated 1 (LGI-1), 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Encéphalite dysimmunitaire, Internal Medicine, medicine, Autoimmune encephalitis, business, Dysimmune encephalitis, Encéphalite auto-immune, 030217 neurology & neurosurgery
Abstract: International audience; Introduction: Anti-leucine rich glioma inactivated 1 encephalitis is a common and a treatable etiology of autoimmune encephalitis. Its diagnosis is a challenge because the initial diagnostic work-up is often normal.Case report: A 48-year-old man experienced cognitive and behavioral troubles, facio-brachial dystonic seizures and a syndrome of inappropriate antidiuretic hormone secretion. First line tests excluded infectious, neoplastic, systemic inflammatory, endrocrine or toxic etiologies. Cerebral 18Fluoro-desoxy-glucose (FDG) position emission tomography and research of specific antibodies in cerebro-spinal fluid and serum led to diagnose an anti-leucine rich glioma inactivated 1 encephalitis. Intravenous immunoglobulins and corticosteroids were partially effective. Cyclophosphamid permitted a good recovery.Conclusion: In the presence of acute neuropsychiatric disorders with a negative etiologic research, physician should think about dysimmune encephalitis. Facio-brachial dystonic seizures and syndrome of inappropriate antidiuretic hormone secretion are highly evocative of anti-leucine rich glioma inactivated 1 encephalitis. The diagnosis needs specific diagnostic tests (cerebral 18FDG position emission tomography and antibodies research in cerebro-spinal fluid and in serum), after the exclusion of alternative diagnoses. Extensive and repeated diagnostic work-up for neoplasia is required. Immunosupressive therapies are effective in most cases.; Introduction: Diagnostiquer une encéphalite dysimmunitaire est difficile bien qu’il s’agisse de pathologies non rares, de mieux en mieux décrites. Le bilan étiologique de première intention de ces encéphalites reste souvent normal et peu informatif.Observation: Nous rapportons l’observation d’un patient de 48 ans qui présentait des troubles cognitifs et comportementaux, des mouvements anormaux (spasmes brachio-faciaux), des crises d’épilepsie et un syndrome de sécrétion inappropriée d’hormone antidiurétique. Après élimination d’une encéphalite infectieuse, néoplasique, inflammatoire systémique, métabolique ou toxique, la tomographie par émission de positons cérébrale au 18Fluoro-désoxy-glucose (18FDG) et la recherche d’anticorps anti-neuronaux dans le liquide céphalorachidien et le sérum permettaient de diagnostiquer une encéphalite dysimmunitaire à anticorps anti-canaux potassiques voltage-dépendants de type anti-leucine rich glioma inactivated 1. L’évolution était favorable sous cyclophosphamide après une efficacité incomplète des immunoglobulines intraveineuses et de la corticothérapie systémique.Conclusion: Il faut savoir évoquer une encéphalite dysimmunitaire devant un tableau neuropsychiatrique aigu à bilan étiologique négatif. Les signes évocateurs d’une encéphalite à anti-leucine rich glioma inactivated 1 sont les spasmes brachio-faciaux et le syndrome de sécrétion inappropriée d’hormone antidiurétique. Son diagnostic repose sur des examens ciblés (tomographie par émission de positons cérébrale au 18FDG et recherche d’anticorps dans le liquide céphalorachidien et le sérum). Un bilan exhaustif et répété à la recherche d’une néoplasie occulte est nécessaire. Les traitements immunosuppresseurs sont efficaces.
Published: 2016
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31. Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency

Author: Laurent Servais, Bénédicte Héron, Sandrine Vuillaumier, Elsa Kaphan, Domitille Gras, Emmanuel Roze, Raphael Schiffmann, Romain Valabregue, Elodie Hainque, Samantha Caillet, Chris Ottolenghi, Isaac M. Adanyeguh, Agathe Roubertie, Fanny Mochel, Jean-Yves Hogrel, Daisy Rinaldi, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de neuropédiatrie [Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, CHU Trousseau [APHP], Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Neuro-Oncologie [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Center for NeuroImaging Research-Human MRI Neuroimaging core facility for clinical research [ICM Paris] (CENIR), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biochimie Hormonale et Génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Baylor Research Institute, Baylor College of Medecine, Université Paris Descartes - Paris 5 (UPD5), Laboratoire de Biochimie Métabolique, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute ( ICM ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -CHU Pitié-Salpêtrière [APHP], Service de génétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Service d'Explorations Fonctionnelles Neurologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Service de diabétologie [CHU Pitié-Salpétrière], Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], 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 ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Centre de Neuro-Imagerie de Recherche ( CENIR ), Assistance publique - Hôpitaux de Paris (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Université Paris Descartes - Paris 5 ( UPD5 ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Association française contre les myopathies ( AFM-Téléthon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], CHU Pitié-Salpêtrière [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Centre de Neuro-Imagerie de Recherche (CENIR), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neuroradiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [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), Service de Diabétologie [CHU Pitié-Salpétrière], and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Male, 0301 basic medicine, Motor disorder, Magnetic Resonance Spectroscopy, Movement disorders, Phosphocreatine, Pilot Projects, chemistry.chemical_compound, 0302 clinical medicine, Young adult, Child, Glucose Transporter Type 1, Movement Disorders, Middle Aged, 3. Good health, Triheptanoin, Psychiatry and Mental health, METABOLIC DISEASE, Cardiology, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Occipital Lobe, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Phosphates, Young Adult, 03 medical and health sciences, Chorea, Internal medicine, medicine, Humans, Triglycerides, business.industry, Functional Neuroimaging, Therapeutic effect, medicine.disease, Surgery, 030104 developmental biology, chemistry, [ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), Energy Metabolism, business, Occipital lobe, 030217 neurology & neurosurgery
Abstract: Objective:On the basis of our previous work with triheptanoin, which provides key substrates to the Krebs cycle in the brain, we wished to assess its therapeutic effect in patients with glucose transporter type 1 deficiency syndrome (GLUT1-DS) who objected to or did not tolerate ketogenic diets. Methods:We performed an open-label pilot study with three phases of 2 months each (baseline, treatment and withdrawal) in eight patients with GLUT1-DS (7–47 years old) with non-epileptic paroxysmal manifestations. We used a comprehensive patient diary to record motor and non-motor paroxysmal events. Functional31P-NMR spectroscopy was performed to quantify phosphocreatine (PCr) and inorganic phosphate (Pi) within the occipital cortex during (activation) and after (recovery) a visual stimulus. Results:Patients with GLUT1-DS experienced a mean of 30.8 (±27.7) paroxysmal manifestations (52% motor events) at baseline that dropped to 2.8 (±2.9, 76% motor events) during the treatment phase (p=0.028). After withdrawal, paroxysmal manifestations recurred with a mean of 24.2 (±21.9, 52% motor events; p=0.043). Furthermore, brain energy metabolism normalised with triheptanoin, that is, increased Pi/PCr ratio during brain activation compared to the recovery phase (p=0.021), and deteriorated when triheptanoin was withdrawn. Conclusions:Treatment with triheptanoin resulted in a 90% clinical improvement in non-epileptic paroxysmal manifestations and a normalised brain bioenergetics profile in patients with GLUT1-DS. Trial registration number:NCT02014883.
Published: 2016
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32. In vivo quantification of brain injury in adult Niemann–Pick Disease Type C

Author: Sylviane Confort-Gouny, Elsa Kaphan, Elisabeth Soulier, Patrick J. Cozzone, Jean Pelletier, Lydie Crespy, Bertrand Audoin, Audrey Rico, Jean-Philippe Ranjeva, Anthony Faivre, and Wafaa Zaaraoui
Subjects: Adult, Male, Pathology, medicine.medical_specialty, Cerebellum, Endocrinology, Diabetes and Metabolism, Grey matter, Biochemistry, White matter, Young Adult, Endocrinology, Genetics, medicine, Humans, Molecular Biology, Pathological, Niemann–Pick disease, type C, medicine.diagnostic_test, business.industry, Niemann-Pick Disease, Type C, Magnetic resonance imaging, Middle Aged, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Brain Injuries, Biomarker (medicine), Female, business, Niemann–Pick disease, Biomarkers
Abstract: Development of surrogate markers is necessary to assess the potential efficacy of new therapeutics in Niemann–Pick Disease Type C (NP-C). In the present study, magnetization transfer ratio (MTR) imaging, a quantitative MRI imaging technique sensitive to subtle brain microstructural changes, was applied in two patients suffering from adult NP-C. Statistical mapping analysis was performed to compare each patient's MTR maps with those of a group of 34 healthy controls to quantify and localize the extent of brain injury of each patient. Using this method, pathological changes were evidenced in the cerebellum, the thalami and the lenticular nuclei in both patients and also in the fronto-temporal cortices in the patient with the worse functional deficit. In addition, white matter changes were located in the midbrain, the cerebellum and the fronto-temporal lobes in the patient with the higher level of disability and in only one limited periventricular white matter region in the other patient. A 6-month follow-up was performed in the patient with the lower functional deficit and evidenced significant extension of grey matter (GM) and white matter (WM) injuries during the following period (14% of increased injury for GM and 53% for WM). This study demonstrates that significant brain injury related to clinical deficit can be assessed in vivo in adult NP-C using MTR imaging. Although preliminary, these findings suggest that MTR imaging may be a relevant candidate for the development of biomarker in NP-C.
Published: 2011
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33. Identification of CACNA1A large deletions in four patients with episodic ataxia

Author: Elsa Kaphan, Florence Riant, Sylvette R. Wiener-Vacher, Katayoun Vahedi, Elisabeth Tournier-Lasserve, Thierry Soisson, Christelle Lescoat, and Annick Toutain
Subjects: Adult, Male, Proband, Ataxia, Molecular Sequence Data, Biology, Cellular and Molecular Neuroscience, Exon, Sequence Homology, Nucleic Acid, Multiplex polymerase chain reaction, Genetics, medicine, Humans, Point Mutation, Spinocerebellar Ataxias, Missense mutation, Genetics (clinical), Aged, Family Health, Episodic ataxia, Base Sequence, Point mutation, Middle Aged, medicine.disease, Human genetics, Pedigree, Female, Calcium Channels, medicine.symptom, Gene Deletion
Abstract: Episodic ataxia is an autosomal dominant ion channel disorder characterized by paroxysmal attacks of incoordination. Episodic ataxia type 2 (EA2) is caused by mutations in CACNA1A. EA2 mutations are mostly nonsense and sometimes missense mutations. However, in some typical EA2 families, CACNA1A sequencing does not detect any point mutation. Herein, we have designed a quantitative multiplex polymerase chain reaction of short fluorescent fragment test to screen the 50 exons of CACNA1A and investigated 27 probands referred for molecular diagnosis of EA2 who did not show any point mutation in CACNA1A. We have identified four different exonic deletions in four patients with a typical EA2 phenotype. These results establish the need to complete sequencing analysis by a screening for deletions to ensure an accurate molecular diagnosis of EA2.
Published: 2009
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34. Achalasie de l’œsophage, troubles du sommeil et mouvements choréiques au cours d’une taupathie sans ophtalmoplégie, syndrome parkinsonien ni démence (paralysie supranucléaire progressive ?) : étude clinicopathologique

Author: Elsa Kaphan, D. Robert, M. Rey, Jean-François Pellissier, M. Auphan, and A. Ali Cherif
Subjects: Neurology, Neurology (clinical)
Abstract: Resume Introduction La paralysie supranucleaire progressive (PSP) se presente habituellement avec une ophtalmoplegie supranucleaire, des chutes, un syndrome parkinsonien, un syndrome pseudobulbaire et des troubles cognitifs. Des presentations atypiques ont ete decrites, sans ophtalmoplegie ou avec mouvements choreiques, mais jamais sans aucun des autres signes habituels de la maladie. Cas clinique Une femme, âgee de 60 ans, consulta pour une agitation nocturne et des mouvements choreiques. Des troubles de deglutition severes par achalasie du sphincter superieur de l’œsophage apparurent quelques mois plus tard, responsables d’episodes recurrents de detresse respiratoire, conduisant a la realisation d’une tracheotomie et d’une gastrostomie. Elle deceda deux ans apres le debut des troubles. L’examen autopsique du cerveau revela la presence d’une taupathie, avec depots de proteine tau phosphorylee anormale formant des fibres tortueuses dystrophiques et des degenerescences neurofibrillaires (DNF) dans le tronc cerebral, le noyau sous-thalamique et l’hippocampe. L’analyse en microscopie electronique des DNF revela la presence de paires de filaments droits, compatibles avec le diagnostic de PSP. Conclusion Ce cas illustre la diversite de presentations cliniques de la PSP. Une partie des symptomes peut etre expliquee par la distribution des anomalies neuropathologiques plus limitees qu’a l’habitude, probablement du fait du deces precoce de la patiente. Les anomalies neuropathologiques precoces de la PSP pourraient apparaitre dans la region dorsale du tronc cerebral.
Published: 2008
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35. Les fluctuations non motrices de la maladie de Parkinson

Author: Tatiana Witjas, Elsa Kaphan, and Jean-Philippe Azulay
Subjects: Parkinson's disease, business.industry, Dopaminergic, Sensory system, Cognition, Disease, medicine.disease, Chest pain, Central nervous system disease, Degenerative disease, Neurology, medicine, Neurology (clinical), medicine.symptom, business, Neuroscience
Abstract: Nonmotor fluctuations (NMF) in Parkinson's disease are nonmotor symptoms that occur in coincidence with motor fluctuations or independently. Long under-assessed, NMF are now recognized as frequent and sometimes involving a greater degree of disability than motor fluctuations. They can be classified in three categories: dysautonomic, cognitive/psychiatric and sensory/pain. Recognition of these nonmotor fluctuations as part of Parkinson's disease has important implications. Some symptoms such as dyspnea, chest pain, or abdominal pains can mimic cardiac or gastrointestinal emergencies. The underlying pathogenic mechanisms of NMF are not well known. The dopaminergic system is probably involved via modulation of other systems (serotoninergic, adrenergic) since NMF usually respond to dopaminergic treatment. Subthalamic nucleus deep brain stimulation alleviates NMF-- particularly sensory, dysautonomic and cognitive fluctuations--while psychic fluctuations respond less consistently to this treatment. The development of new instruments that enable a comprehensive and precocious assessment of NMF is important for optimized management of advanced Parkinson's disease.
Published: 2007
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36. Nécrose laminaire corticale : aspects en imagerie par résonance magnétique et étude anatomoclinique

Author: A. Ali Cherif, Elsa Kaphan, Nadia Laksiri, and Jean-François Pellissier
Subjects: Neurology, Neurology (clinical)
Abstract: Resume Introduction Les complications neurologiques aigues ou sub-aigues de l’alcoolisme chronique les plus frequentes sont le delirium tremens, l’encephalopathie hepatique et l’encephalopathie de Gayet-Wernicke. La sclerose laminaire de Morel en est une complication plus rare et mal connue, souvent associee a la maladie de Marchiafava-Bignami. Cas clinique Un homme de 57 ans, ethylique chronique, porteur d’une cirrhose alcoolique presenta dans les suites d’une intervention chirurgicale un syndrome confusionnel. Secondairement, apparurent des troubles mnesiques, des fausses reconnaissances et une crise convulsive, puis il devint mutique et grabataire. L’IRM cerebrale retrouva des anomalies temporo-parietales bilaterales. Le patient deceda 4 mois apres le debut des troubles neurologiques. L’examen neuropathologique retrouva une necrose laminaire corticale sans lesion calleuse, associee a une gliose d’Alzheimer de type II. Conclusion La necrose laminaire corticale peut etre secondaire a une anoxie cerebrale, une vascularite cerebrale ou un accident vasculaire cerebral. Chez l’ethylique chronique, de telles lesions ont ete rapportees sous le terme de sclerose laminaire de Morel. Certains aspects des donnees anatomopathologiques sont atypiques et seront discutes et confrontes aux donnees d’imagerie par IRM, jusque la non reportees dans la sclerose laminaire de Morel.
Published: 2007
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37. Effects of chronic subthalamic stimulation on nonmotor fluctuations in Parkinson's disease

Author: Jean-Philippe Azulay, Jean-Claude Peragut, André Ali Cherif, Elisabeth Jouve, Elsa Kaphan, Tatiana Witjas, and Jean Régis
Subjects: Male, medicine.medical_specialty, Parkinson's disease, Deep brain stimulation, Deep Brain Stimulation, medicine.medical_treatment, Pain, Stimulation, Akathisia, Central nervous system disease, Degenerative disease, Subthalamic Nucleus, medicine, Humans, Pain Management, Aged, Retrospective Studies, Mental Disorders, Parkinson Disease, Middle Aged, medicine.disease, nervous system diseases, Surgery, Subthalamic nucleus, surgical procedures, operative, Autonomic Nervous System Diseases, nervous system, Neurology, Dyskinesia, Anesthesia, Female, Neurology (clinical), medicine.symptom, Psychology, therapeutics
Abstract: The aim of this study was to assess the outcome of nonmotor fluctuations (NMF) after chronic Subthalamic nucleus (STN) Deep Brain Stimulation (DBS) in Parkinson's disease(PD). Chronic stimulation of the STN has proved to be an effective treatment for advanced PD with motor complications. The outcome of NMF, which are also disabling, remains unknown. Forty-patients underwent bilateral STN stimulation. Each patient was interviewed before and after 1 yr of STN DBS with a structured questionnaire about their NMF. After 1 yr of chronic stimulation, the improvement in the motor score (UPDRS III) and dyskinesia amounted respectively to 67.4 and 76.3%. The decrease in motor fluctuations (MF) was 59% and 13 patients reported that their MF had disappeared. Comparatively, a reduction of the total number of NMF was also observed (mean number preoperatively: 15.6 per patient, postoperatively: 6.6). Most of the nonmotor fluctuating symptoms occurred in the "off" state preoperatively and no longer depended on the patient's motor state after surgery. The improvement in NMF was not identical for the different categories: pain/sensory fluctuations showed the best response to STN DBS (84.2%). Dysautonomic and cognitive fluctuations were also markedly improved (>60%) while psychic fluctuations remained the most frequent postoperative NMF observed. Some incapacitating manifestations such as drenching sweats and akathisia showed a remarkably good response to STN stimulation. In conclusion STN DBS alleviates NMF. It has strikingly successful effects on sensory, dysautonomic and cognitive fluctuations. However, psychic fluctuations respond less consistently to this treatment.
Published: 2007
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38. Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat

Author: Marie-Thérèse Vanier, Bertrand Audoin, Ayman Tourbah, Frédéric Sedel, Brigitte Chabrol, Christine Tranchant, Damien Galanaud, Tomasz Burzykowski, Elsa Kaphan, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [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), Hôpital de la Timone [CHU - APHM] (TIMONE), 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), 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), Neuro-Oncologie [Hôpital de la Timone - APHM], Hôpital de Hautepierre [Strasbourg], Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), International Drug Development Institute (IDDI), Hôpital Maison Blanche, Centre Hospitalier Universitaire de Reims (CHU Reims), Plateforme d'information et de services pour les maladies rares et les médicaments orphelins (Orphanet), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Broussais-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neuroradiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Algorithms, models and methods for images and signals of the human brain (ARAMIS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [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)-Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), 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)-Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS)-Inria de Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Inria de Paris, 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)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Inria de Paris
Subjects: 0301 basic medicine, Male, Pediatrics, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Gastroenterology, Choline, Disability Evaluation, 0302 clinical medicine, Miglustat, Longitudinal Studies, Enzyme Inhibitors, Original Communication, Brain, Niemann-Pick Disease, Type C, 3. Good health, Treatment Outcome, Neurology, [INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV], Disease Progression, Female, Off Treatment, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, medicine.drug, Adult, medicine.medical_specialty, 1-Deoxynojirimycin, Patient Dropouts, Adolescent, Clinical Neurology, 03 medical and health sciences, Young Adult, Internal medicine, Magnetic resonance spectroscopy, medicine, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Substrate reduction therapy, Adverse effect, Aspartic Acid, Niemann–Pick disease, type C, business.industry, Therapeutic effect, [INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV], Niemann–Pick disease type C, medicine.disease, Functional magnetic resonance spectroscopy of the brain, 030104 developmental biology, Linear Models, Neurology (clinical), Centrum ovale, business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: Niemann–Pick disease type C (NP-C) is a fatal progressive neurolipidosis involving neuronal storage of cholesterol and gangliosides. Miglustat, an inhibitor of glycosphingolipid synthesis, has been approved to treat neurological manifestations in adults and children with NP-C. This open-label observational study in adults with confirmed NP-C evaluated the efficacy of miglustat (200 mg t.i.d.) based on composite functional disability (CFD) scores and brain proton magnetic resonance spectroscopy (H-MRS) measurement of choline (Cho)/N-acetyl aspartate (NAA) ratio in the centrum ovale. Overall, 16 patients were included and received miglustat for a mean period of 30.6 months: 12 continued on miglustat throughout follow up, and 4 discontinued miglustat because of adverse effects (n = 2) or perceived lack of efficacy (n = 2). In the ‘continued’ subgroup, the mean (SD) annual progression of CFD scores decreased from 0.75 (0.94) before treatment to 0.29 (1.29) during the period between miglustat initiation and last follow-up. In the discontinued subgroup, CFD progression increased from 0.48 (0.44) pre-treatment to 1.49 (1.31) at last follow up (off treatment). Mean (SD) Cho/NAA ratio [normal level 0.48 (0.076)] decreased during miglustat treatment in the continued subgroup: 0.64 (0.12) at baseline (miglustat initiation), 0.59 (0.17) at 12-month follow up, and 0.48 (0.09) at 24-month follow up. Cho/NAA ratio remained relatively stable in the discontinued subgroup: 0.57 (0.15), 0.53 (0.04) and 0.55 (0.09), respectively. In conclusion, H-MRS Cho/NAA ratio might serve as an objective, quantitative neurological marker of brain dysfunction in NP-C, allowing longitudinal analysis of the therapeutic effect of miglustat. Electronic supplementary material The online version of this article (doi:10.1007/s00415-016-8051-1) contains supplementary material, which is available to authorized users.
Published: 2015
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39. Tétraparésie aiguë d’origine cérébrale

Author: L. Milandre, A. Ali Cherif, Elsa Kaphan, and L. Feuillet
Subjects: Central nervous system disease, Neurology, Cerebral mri, business.industry, medicine, Neurology (clinical), medicine.symptom, business, Nuclear medicine, medicine.disease, Paresis
Abstract: Resume Introduction Du fait des contraintes horaires inherentes a l’utilisation des traitements thrombolytiques au stade precoce des accidents vasculaires cerebraux ischemiques (AVC), la phase de diagnostic positif et topographique doit etre reduite au maximum. Parfois le tableau clinique est trompeur risquant de retarder la prise en charge therapeutique. Observation Nous rapportons les observations de deux patients ayant brutalement presente un deficit moteur des quatre membres, sans signe encephalique associe. La localisation lesionnelle medullaire initialement evoquee n’a pas ete retenue sur la normalite de l’imagerie par resonance magnetique (IRM) cervicale. En revanche, l’IRM cerebrale a permis d’imputer dans les deux cas cette symptomatologie pseudo medullaire a un AVC bihemispherique. Le premier patient presentait un AVC partiel dans le territoire des deux arteres cerebrales anterieures ; le second presentait un AVC localise aux bras posterieurs des deux capsules internes. Conclusion Devant un tableau de tetraparesie, l’imagerie medullaire doit rester primordiale. En cas de negativite, nous suggerons de realiser dans le meme temps radiologique une IRM cerebrale a la recherche d’un accident ischemique bi-hemispherique en cours de constitution potentiellement redevable d’une prise en charge par thrombolyse a la phase precoce.
Published: 2005
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40. Hémorragie méningée corticale focale récidivante révélant un phéochromocytome

Author: Emilie Doche, Nadia Laksiri, Elsa Kaphan, Jean Pelletier, and Noëlle Messaoudi
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction L’hemorragie meningee corticale focale (HMCF) est rare et sous-estimee. L’imagerie par resonance magnetique cerebrale (IRM) ameliore sa detection et permet souvent d’en faire le diagnostic etiologique. Observation Une femme de 46 ans sans antecedent a presente une cephalee en coup de tonnerre pendant une epreuve d’effort realisee pour explorer des palpitations. Le scanner et l’IRM ont montre une hemorragie meningee parietale gauche. L’angioscanner, l’IRM et l’arteriographie n’ont pas montre d’anomalie vasculaire. Devant cette cephalee brutale associee a une HMCF, un syndrome de vasoconstriction cerebral reversible semblait le plus probable. Un traitement par Nimotop et antalgiques a permis la disparition des cephalees. Huit semaines plus tard, apres l’arret du Nimotop, la patiente a presente une recidive des cephalees avec une hypertension. L’IRM montrait une hemorragie meningee parieto-occipitale droite. L’arteriographie etait normale. La ponction lombaire retrouvait un liquide hemorragique sans autre anomalie. Un traitement par Nimotop a ete reconduit permettant la disparition des cephalees. Le scanner abdominal retrouvait une masse surrenalienne droite. Le diagnostic de pheochromocytome a ete confirme par une tomoscintigraphie par emission de positons. Depuis la surrenalectomie, la patiente n’a pas eu de recidive de cephalee ni d’hemorragie meningee. Discussion L’HMCF a plusieurs etiologies neurologiques telles que l’angiopathie amyloide, le syndrome de vasoconstriction cerebral reversible (SVCR), la thrombophlebite et les vascularites. L’association entre les pathologies neurologiques et le pheochromocytome est peu etudiee. A notre connaissance, le seul cas rapporte associant HMCF et pheochromocytome etait une femme ayant presentee en post-partum un SVCR entrainant son deces. Conclusion Apres avoir elimine les causes neurologiques d’HMCF, il faut penser a rechercher un pheochromocytome dont la prise en charge chirurgicale permet la guerison.
Published: 2016
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41. Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients

Author: Gilles Edan, Nicolas Collongues, Frédéric Blanc, Eloi Magnin, Marc Bataillard, Mickael Cohen, Thierry Levade, David Brassat, Jean-Philippe Neau, Patrizia Amati-Bonneau, Xavier Ayrignac, Maurice Giroud, Patrick Vermersch, Eric Berger, Cyril Goizet, Celine Bellesme, Clarisse Carra-Dalliere, Jean Louis Devoize, Christophe Verny, Anne Marie Guennoc, Pierre Labauge, Marc Debouverie, Pierre Clavelou, Thibault Moreau, Jean Pelletier, Laurent Magy, Bruno Brochet, Christian Denier, Jean-Philippe Camdessanché, Sandrine Wiertlewski, Nicolas Menjot de Champfleur, Jean-Christophe Ouallet, Gilles Defer, Frédérique Taithe, Elsa Kaphan, Nathalie Derache, Françoise Durand-Dubief, Michel Clanet, Sandra Vukusic, Christine Lebrun-Frenay, Stéphane Mathis, Olivier Outteryck, Bertrand Audoin, Lucie Guyant-Maréchal, Odile Boespflug Tanguy, Elisabeth Tournier-Lasserve, Didier Hannequin, Hélène Zéphir, Jean-Baptiste Chanson, Emmanuelle Le Page, Patrick Aubourg, Sophie Pittion, Jérôme De Seze, Imen Dorboz, Véronique Deburghgraeve, Giovanni Castelnovo, Dominique Bonneau, Julien Masliah-Planchon, David-Axel Laplaud, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université Montpellier 1 (UM1), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Department of Neuroradiology, Université Paris-Sud - Paris 11 (UP11)-Hôpital Bicêtre, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), CHU Marseille, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie [Strasbourg], CHU Strasbourg, Laboratoire d'imagerie et de neurosciences cognitives (Strasbourg), Laboratoire d'Imagerie et de Neurosciences Cognitives (LINC), Université Louis Pasteur - Strasbourg I-IFR37-Centre National de la Recherche Scientifique (CNRS)-Université Louis Pasteur - Strasbourg I-IFR37-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), RMN et optique : De la mesure au biomarqueur, Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint-Etienne, Centre Hospitalier Universitaire de Nice (CHU Nice), Pôle neurosciences [Hôpital de Purpan - Toulouse], CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire d'Immunologie (EA 2686), Université de Lille, Droit et Santé, Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Bordeaux [Bordeaux], Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre d'investigation clinique [Nancy] (CIC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de neurologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Vision, Action et Gestion d'informations en Santé (VisAGeS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE (IRISA-D5), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), CentraleSupélec-Télécom Bretagne-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Université de Bretagne Sud (UBS)-Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-CentraleSupélec-Télécom Bretagne-Université de Rennes 1 (UR1), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Université de Bretagne Sud (UBS)-Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA), Service de Neurologie [Rennes] = Neurology [Rennes], CHU Pontchaillou [Rennes], Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Gérontologie (BICETRE - Géronto), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique, PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CHU Clermont-Ferrand, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service de Neurologie [CHU Limoges], CHU Limoges, Centre Hospitalier d'Angoulême (CH Angoulême), Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux (Inserm U745), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement (IFR71), Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Sorbonne Paris Cité (USPC), Université de Montpellier (UM), Institut des Neurosciences de Montpellier (INM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Université Montpellier 1 ( UM1 ), Université Paris-Sud - Paris 11 ( UP11 ) -Hôpital Bicêtre, Centre Hospitalier Régional Universitaire de Nîmes ( CHRU Nîmes ), Centre de résonance magnétique biologique et médicale ( CRMBM ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire d'Imagerie et de Neurosciences Cognitives ( LINC ), Université Louis Pasteur - Strasbourg I-IFR37-Centre National de la Recherche Scientifique ( CNRS ) -Université Louis Pasteur - Strasbourg I-IFR37-Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ), Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé ( CREATIS ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon ( INSA Lyon ), Université de Lyon-Institut National des Sciences Appliquées ( INSA ) -Institut National des Sciences Appliquées ( INSA ) -Hospices Civils de Lyon ( HCL ) -Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), CHU Nice, Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Laboratoire d'Immunologie ( EA 2686 ), Centre hospitalier universitaire de Nantes ( CHU Nantes ), Université de Bordeaux ( UB ) -CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, CIC-Nancy, Institut Lorrain du Coeur et des Vaisseaux Louis Mathieu [Nancy]-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Vision, Action et Gestion d'informations en Santé ( VisAGeS ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE ( IRISA-D5 ), Institut de Recherche en Informatique et Systèmes Aléatoires ( IRISA ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Université de Bretagne Sud ( UBS ) -École normale supérieure - Rennes ( ENS Rennes ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National des Sciences Appliquées ( INSA ) -Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique ( CNRS ) -Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Université de Bretagne Sud ( UBS ) -École normale supérieure - Rennes ( ENS Rennes ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National des Sciences Appliquées ( INSA ) -Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche en Informatique et Systèmes Aléatoires ( IRISA ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Université de Bretagne Sud ( UBS ) -École normale supérieure - Rennes ( ENS Rennes ) -Institut National des Sciences Appliquées ( INSA ) -Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique ( CNRS ), Service de Neurologie [Rennes], Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Centre d'Investigation Clinique [Rennes] ( CIC ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de Gérontologie ( BICETRE - Géronto ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre, Centre Hospitalier Universitaire d'Angers ( CHU Angers ), PRES Université Nantes Angers Le Mans ( UNAM ), Biologie Neurovasculaire et Mitochondriale Intégrée, Université d'Angers ( UA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université d'Angers ( UA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), CHU Angers, Génétique du cancer et des maladies neuropsychiatriques ( GMFC ), Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de Neurologie [Caen], CHU Caen-Université de Caen Normandie ( UNICAEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Centre de recherche en épidémiologie et santé des populations ( CESP ), Université de Versailles Saint-Quentin-en-Yvelines ( UVSQ ) -Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), CHRU Tours, Centre hospitalier universitaire de Poitiers ( CHU Poitiers ), Centre Hospitalier d'Angoulême, Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux ( Inserm U745 ), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement ( IFR71 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Promoting Research Oriented Towards Early Cns Therapies ( PROTECT ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Sorbonne Paris Cité ( USPC ), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), and Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Télécom Bretagne-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, Pathology, leukodystrophy, Adolescent, [SDV]Life Sciences [q-bio], White matter, Leukoencephalopathy, Young Adult, metabolic, Leukoencephalopathies, medicine, Humans, Age of Onset, 10. No inequality, CADASIL, Aged, Retrospective Studies, [ SDV ] Life Sciences [q-bio], medicine.diagnostic_test, business.industry, Leukodystrophy, Retrospective cohort study, Magnetic resonance imaging, Middle Aged, medicine.disease, Magnetic Resonance Imaging, White Matter, 3. Good health, Cerebrovascular Disorders, medicine.anatomical_structure, Cohort, Female, Neurology (clinical), France, Age of onset, genetic, business, MRI
Abstract: International audience; Inherited white matter diseases are rare and heterogeneous disorders usually encountered in infancy. Adult-onset forms are increasingly recognized. Our objectives were to determine relative frequencies of genetic leukoencephalopathies in a cohort of adult-onset patients and to evaluate the effectiveness of a systematic diagnostic approach. Inclusion criteria of this retrospective study were: (i) symmetrical involvement of white matter on the first available brain MRI; (ii) age of onset above 16 years. Patients with acquired diseases were excluded. Magnetic resonance imaging analysis identified three groups (vascular, cavitary and non-vascular/non-cavitary) in which distinct genetic and/or biochemical testing were realized. One hundred and fifty-four patients (male/female = 60/94) with adult-onset leukoencephalopathies were identified. Mean age of onset was 38.6 years. In the vascular group, 41/55 patients (75%) finally had a diagnosis [including CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, n = 32) and COL4A1 mutation, n = 7]. In the cavitary group, 13/17 (76%) patients had a diagnosis of EIF2B-related disorder. In the third group (n = 82), a systematic biological screening allowed a diagnosis in 23 patients (28%) and oriented direct genetic screening identified 21 additional diseases (25.6%). Adult-onset genetic leukoencephalopathies are a rare but probably underestimated entity. Our study confirms the use of a magnetic resonance imaging-based classification with a final diagnosis rate of 64% (98/154) cases.
Published: 2014
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42. 18F-DOPA, a clinically available PET tracer to study brain inflammation?

Author: Q. Sala, Philippe Metellus, Elsa Kaphan, Dominique Figarella-Branger, Eric Guedj, and David Taïeb
Subjects: Adult, Male, Pathology, medicine.medical_specialty, Inflammation, Glioma, Histological diagnosis, medicine, Humans, Radiology, Nuclear Medicine and imaging, Pet tracer, Radioactive Tracers, medicine.diagnostic_test, business.industry, Neurosarcoidosis, General Medicine, Middle Aged, medicine.disease, Dihydroxyphenylalanine, 18f dopa, Positron emission tomography, Positron-Emission Tomography, Acute disseminated encephalomyelitis, Encephalitis, Female, medicine.symptom, business
Abstract: We report 2 cases of suspected low-grade glioma with positive 18F-fluorodihydroxyphenylalanine (18F-FDOPA) PET scan, and histological diagnosis of brain inflammation corresponding to an acute disseminated encephalomyelitis (ADEM) and to a neurosarcoidosis. It has been shown that this amino-acid PET radiotracer serves to evaluate tumoral proliferation related to the metabolism of L-amino-acid transporters, and that inflammation may also contribute to the tumoral uptake. This report suggests it may serve to study brain inflammation.
Published: 2014

43. Ganser-like Syndrome After Loss of Psychic Self-activation Syndrome: Psychogenic or Organic?

Author: Eric Guedj, Marie L. Royère, Elsa Kaphan, Jean Pelletier, Emmanuel J. Barbeau, André Ali Cherif, 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 de recherche cerveau et cognition (CERCO), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J), and Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Pediatrics, medicine.medical_specialty, Ganser syndrome, Akinetic mutism, Amnesia, Case Reports, 050105 experimental psychology, 03 medical and health sciences, Carbon Monoxide Poisoning, 0302 clinical medicine, Functional neuroimaging, medicine, Psychogenic disease, Humans, 0501 psychology and cognitive sciences, Neuropsychological assessment, Psychiatry, ComputingMilieux_MISCELLANEOUS, medicine.diagnostic_test, [SCCO.NEUR]Cognitive science/Neuroscience, 05 social sciences, Brain, General Medicine, medicine.disease, Factitious disorder, Psychiatry and Mental health, Clinical Psychology, Akinetic Mutism, Factitious Disorders, Neuropsychology and Physiological Psychology, Etiology, Female, medicine.symptom, Psychology, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: Very few data are available on the long-term changes in the cognitive abilities of patients with loss of psychic self-activation syndrome (LPSAS). Here, we present a 25-year follow-up study on a case of LPSAS resulting from bilateral pallidal lesions caused by carbon monoxide intoxication. Typical signs of LPSAS were observed, showing no changes in severity, but Ganser syndrome (GS) gradually developed and worsened during the follow-up period. GS is generally assumed to be a psychogenic syndrome, but an organic etiology has been suspected by the authors of several case reports. Here, atypical features of GS plead against the independence of GS and LPSAS. DaTSCAN and brain 18FDG-PET were performed. Since left hippocampal hypometabolism has been previously described in patients with functional amnesia, it is possible that long periods of mental inactivity may have psychological consequences, but the atypical features of GS also suggest that an organic mechanism may be involved.
Published: 2014
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44. Japanese encephalitis in a French traveler to Nepal

Author: Philippe Desprès, Elsa Kaphan, Jessica Vanhomwegen, Jean-Christophe Lagier, Gilles Querat, Stanislas Lagarde, Rémi N. Charrel, Jean Pelletier, Service de neurophysiologie clinique [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Hospitalier Universitaire Méditerranée Infection (IHU Marseille), Unité de Recherche sur les Maladies Infectieuses et Tropicales Emergentes (URMITE), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR48, INSB-INSB-Centre National de la Recherche Scientifique (CNRS), Emergence des Pathologies Virales (EPV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM), Cellule d'Intervention Biologique d'Urgence - Laboratory for Urgent Response to Biological Threats (CIBU), Institut Pasteur [Paris], Interactions Moléculaires Flavivirus-Hôtes, 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), Institut des sciences biologiques (INSB-CNRS)-Institut des sciences biologiques (INSB-CNRS)-Centre National de la Recherche Scientifique (CNRS), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris] (IP), Lagarde, Stanislas, Institut Hospitalier Universitaire Méditerranée Infection (IHU AMU), and Cellule d'Intervention Biologique d'Urgence (CIBU)
Subjects: Male, medicine.medical_specialty, Pediatrics, Movement disorders, Culex, HIV Infections, White People, Cellular and Molecular Neuroscience, Young Adult, Nepal, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Virology, medicine, Travel medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Encephalitis, Japanese, Arthropod-borne virus, Travel, biology, business.industry, Viral encephalitis, Flavivirus, Vaccination, Japanese encephalitis, medicine.disease, biology.organism_classification, 3. Good health, Neurology, Immunology, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), medicine.symptom, business, Encephalitis
Abstract: International audience; Japanese encephalitis is frequent in Asia, with a severe prognosis, but rare in travelers. Culex mosquitoes transmit Japanese encephalitis virus. Risk factors are destination, duration of stay, summer and fall seasons, outdoor activities, and type of accommodation. We report the case of a French traveler to Nepal with neutralization-based serological confirmed Japanese encephalitis. He presented classical clinical (viral syndrome before an encephalitis status with behavioral disorder, global hypotonia, mutism, movement disorders, seizure , and coma), radiological (lesions of thalami, cortico-spinal tracts, and brainstem) and biological features (lymphocytic meningitis). Nowadays, the presence of Japanese encephalitis virus in Nepal, including mountain areas, is established but Japanese encephalitis remains rare in travelers returning from this area and neurologist physicians need to become familiar with this. We recommend vaccination for travelers spending a long period of time in Nepal and having at-risk outdoor activities.
Published: 2014
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45. Does Norepinephrine Modify the Effects of Inhaled Nitric Oxide in Septic Patients with Acute Respiratory Distress Syndrome?

Author: Laurent Papazian, Fabienne Bregeon, Régine Gregoire, François Gouin, Monique Badier, Françoise Gaillat, Pierre Saux, Elsa Kaphan, Yves Jammes, Jean-Pierre Auffray, and Xavier Thirion
Subjects: Male, ARDS, Nitric Oxide, Nitric oxide, Norepinephrine (medication), Sepsis, Norepinephrine, chemistry.chemical_compound, Hypoxic pulmonary vasoconstriction, Administration, Inhalation, medicine, Humans, Vasoconstrictor Agents, Prospective Studies, Respiratory Distress Syndrome, Dose-Response Relationship, Drug, Pulmonary Gas Exchange, business.industry, Hemodynamics, Stroke Volume, Middle Aged, medicine.disease, Pulmonary hypertension, Oxygen tension, Anesthesiology and Pain Medicine, chemistry, Anesthesia, Acute Disease, Ventricular Function, Right, Arterial blood, Female, business, medicine.drug
Abstract: Unlabelled Hypoxia-related pulmonary vasoconstriction enhanced by norepinephrine could be deleterious in patients with the acute respiratory distress syndrome (ARDS) and sepsis. A prospective study compared the effects of nitric oxide on cardiorespiratory parameters, including the evaluation of right ventricular function in patients with ARDS and sepsis who were receiving or not receiving norepinephrine. Methods During a 15-month period, 27 patients with ARDS and sepsis were prospectively investigated (group 1: 15 patients not receiving norepinephrine; group 2: 12 patients receiving norepinephrine). Right ventricular ejection fraction was measured by thermodilution. After baseline measurements, nitric oxide was administered at increasing inspiratory concentrations. Results The ratio of oxygen tension in arterial blood to the fractional concentration of oxygen in inspired gas increased in the two groups. After logarithmic transformation of the data, an analysis of variance was performed that did not show any difference between the two groups. A dose-dependent decrease in mean pulmonary arterial pressure was observed in the two groups. This decrease and the increase in right ventricular ejection fraction induced by inhaled nitric oxide were more marked when patients received norepinephrine (P < 0.0001). Conclusion Norepinephrine did not influence the beneficial effects of inhaled nitric oxide administered to patients with ARDS and sepsis on oxygenation.
Published: 1998
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46. Shortlasting, Unilateral, Neuralgiform Headache Attacks with Conjunctival Injection and Tearing (Sunct Syndrome) and Tumour of the Cavernous Sinus

Author: A. Donnet, Elsa Kaphan, Tatiana Witjas, Alexandre Eusebio, and A. Ali Cherif
Subjects: medicine.medical_specialty, Conjunctival injection, business.industry, Anesthesia, Cavernous sinus, medicine, Neurology (clinical), General Medicine, SUNCT syndrome, medicine.disease, business, Surgery
Published: 2003
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47. Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

Author: Annabelle Chaussenot, Cécile Rouzier, Aline Cano, Véronique Paquis-Flucklinger, Elsa Kaphan, Bénédicte Mousson de Camaret, Sabrina Sacconi, Claude Jardel, Samira Ait-El-Mkadem, Valérie Serre, Konstantina Fragaki, Marlène Rio, Christian Richelme, Jean Pouget, Shahram Attarian, Sylvie Bannwarth, Anne-Sophie Lebre, Brigitte Chabrol, Romain Deschamps, Emilien Delmont, Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (... - 2019) (UNS), and COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)
Subjects: Adult, Male, Mitochondrial DNA, Heterozygote, Mitochondrial Diseases, Adolescent, Mitochondrial disease, Nonsense mutation, Epilepsia Partialis Continua, DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, DNA, Mitochondrial, White People, Article, Cohort Studies, 03 medical and health sciences, Exon, Young Adult, 0302 clinical medicine, Genetics, medicine, Missense mutation, Humans, Child, Gene, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), 030304 developmental biology, Aged, Sequence Deletion, Gene Rearrangement, 0303 health sciences, Mutation, Infant, Gene rearrangement, Exons, Sequence Analysis, DNA, Middle Aged, medicine.disease, 3. Good health, DNA Polymerase gamma, Phenotype, Child, Preschool, Female, France, Multiplex Polymerase Chain Reaction, 030217 neurology & neurosurgery
Abstract: International audience; Polymerase gamma (POLG) is the gene most commonly involved in mitochondrial disorders with mitochondrial DNA instability and causes a wide range of diseases with recessive or dominant transmission. More than 170 mutations have been reported. Most of them are missense mutations, although nonsense mutations, splice-site mutations, small deletions and insertions have also been identified. However, to date, only one large-scale rearrangement has been described in a child with Alpers syndrome. Below, we report a large cohort of 160 patients with clinical, molecular and/or biochemical presentation suggestive of POLG deficiency. Using sequencing, we identified POLG variants in 22 patients (18 kindreds) including five novel pathogenic mutations. Two patients with novel mutations had unusual clinical presentation: the first exhibited an isolated ataxic neuropathy and the second was a child who presented with endocrine signs. We completed the sequencing step by quantitative multiplex PCR of short fluorescent fragments (QMPSF) analysis in 37 patients with either only one POLG heterozygous variant or a family history suggesting a dominant transmission. We identified a large intragenic deletion encompassing part of intron 21 and exon 22 of POLG in a child with refractory epilepsia partialis continua. In conclusion, we describe the first large French cohort of patients with POLG mutations, expanding the wide clinical and molecular spectrum observed in POLG disease. We confirm that large deletions in the POLG gene are rare events and we highlight the importance of QMPSF in patients with a single heterozygous POLG mutation, particularly in severe infantile phenotypes.
Published: 2012
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48. Striatal hypermetabolism in limbic encephalitis

Author: Eric Guedj, Lejla Koric, José Boucraut, Elsa Kaphan, Olivier Felician, Caroline Rey, and Mathieu Ceccaldi
Subjects: Male, Pathology, medicine.medical_specialty, Systemic lupus erythematosus, Neurology, business.industry, Limbic encephalitis, Chorea, Middle Aged, medicine.disease, Corpus Striatum, Antiphospholipid syndrome, Fluorodeoxyglucose F18, Limbic Encephalitis, Positron-Emission Tomography, Hypermetabolism, medicine, Dementia, Humans, Neurology (clinical), medicine.symptom, business, Neuroradiology
Abstract: Striatal hypermetabolism on 18FDG-PET scan is a neuroradiological finding that has been described in association with autoimmune disorders such as Sydenham chorea, lupus or antiphospholipid syndrome. Here, we report three patients with non-paraneoplastic limbic encephalitis characterized by 18FDG-PET hypermetabolism of both striata, in contrast with diffuse hypometabolism in the rest of the brain. All patients developed subacute dementia, and antibodies to voltage-gated potassium channels were found in all cases. Brain metabolism and neurological status improved within a few months of immunosuppressive therapy. The finding of striatal hypermetabolism on 18FDG-PET images could thus be highly indicative of limbic encephalitis associated with anti-neuropil antibodies. It could be of significant help in the diagnosis of this rare and treatable condition, and may also provide a useful marker of disease outcome.
Published: 2011

49. Neurologic Disorders and Hepatitis E, France, 2010

Author: Anne Motte, Stéphan Cohen-Bacrie, Laura-Anne Despierres, Elsa Kaphan, Jean Pouget, René Gerolami, Shahram Attarian, Jean Pelletier, Rémi N. Charrel, and Philippe Colson
Subjects: Male, Microbiology (medical), Pediatrics, medicine.medical_specialty, Acute hepatitis E, Epidemiology, lcsh:Medicine, hepatitis E virus, neurologic symptoms, medicine.disease_cause, Polymerase Chain Reaction, lcsh:Infectious and parasitic diseases, Hepatitis E virus, medicine, Humans, viruses, lcsh:RC109-216, business.industry, autochthonous hepatitis, lcsh:R, Dispatch, meningitis, Diagnostic test, Polyradiculoneuropathy, Middle Aged, medicine.disease, Hepatitis E, Meningitis, Viral, Infectious Diseases, Acute Disease, Immunology, RNA, Viral, Female, France, business, Meningitis, polyradiculoneuropathy
Abstract: We report meningitis with diffuse neuralgic pain or polyradiculoneuropathy associated with PCR-documented acute hepatitis E in 2 adults. These observations suggest that diagnostic testing for hepatitis E virus should be conducted for patients who have neurologic symptoms and liver cytolysis.
Published: 2011
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50. Combined diffusion imaging and MR spectroscopy in the diagnosis of human prion diseases

Author: Jean-Philippe Ranjeva, Jean-Philippe Brandel, Nicholas Ayache, Stéphane Haïk, Didier Dormont, Elsa Kaphan, Jacques Chiras, Patrick J. Cozzone, Marius George Linguraru, Damien Galanaud, Baptiste Faucheux, 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), Laboratoire de Neuropathologie Raymond Escourolle [CHU Pitié-Salpétriêre], Université Pierre et Marie Curie - Paris 6 (UPMC)-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), Analysis and Simulation of Biomedical Images (ASCLEPIOS), Inria Sophia Antipolis - Méditerranée (CRISAM), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Neurosciences cognitives et imagerie cérébrale (NCIC), Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Imagerie Fonctionnelle (LIF), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-IFR49-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuroépidémiologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Asclepios, Project-Team, Service de Neuroradiologie [CHU Pitié-Salpêtrière], Laboratoire de Neuropathologie Raymond Escourolle, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Université Pierre et Marie Curie - Paris 6 (UPMC)
Subjects: In vivo magnetic resonance spectroscopy, Cerebellum/metabolism/pathology, Pathology, Cerebellum, Magnetic Resonance Spectroscopy, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, animal diseases, [INFO.INFO-IM] Computer Science [cs]/Medical Imaging, Fluid-attenuated inversion recovery, Pulvinar, Prion Diseases, 030218 nuclear medicine & medical imaging, 0302 clinical medicine, Degenerative disease, [INFO.INFO-TS]Computer Science [cs]/Signal and Image Processing, Cortex (anatomy), Basal ganglia, 80 and over, Corpus Striatum/metabolism/pathology, Prospective Studies, Aged, 80 and over, Brain Diseases, Brain Diseases/metabolism/pathology/physiopathology, Brain, Magnetic Resonance Spectroscopy/*methods, Middle Aged, Frontal Lobe, medicine.anatomical_structure, Adolescent, Adult, Aged, 80 and over, Brain Diseases/metabolism/pathology/physiopathology, Cerebellum/metabolism/pathology, Corpus Striatum/metabolism/pathology, Diffusion Magnetic Resonance Imaging/*methods, Frontal Lobe/metabolism/pathology, Humans, Magnetic Resonance Spectroscopy/*methods, Middle Aged, Prion Diseases/*metabolism/*pathology/physiopathology, Prospective Studies, Pulvinar/metabolism/pathology, Sensitivity and Specificity, [INFO.INFO-MO] Computer Science [cs]/Modeling and Simulation, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, Adult, medicine.medical_specialty, Adolescent, [INFO.INFO-TS] Computer Science [cs]/Signal and Image Processing, Prion Diseases/*metabolism/*pathology/physiopathology, Pulvinar/metabolism/pathology, Sensitivity and Specificity, Central nervous system disease, Diffusion Magnetic Resonance Imaging/*methods, 03 medical and health sciences, medicine, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Radiology, Nuclear Medicine and imaging, [SPI.SIGNAL] Engineering Sciences [physics]/Signal and Image processing, Aged, business.industry, Lenticular nucleus, Frontal Lobe/metabolism/pathology, medicine.disease, [INFO.INFO-MO]Computer Science [cs]/Modeling and Simulation, Corpus Striatum, Diffusion Magnetic Resonance Imaging, [SDV.IB.IMA] Life Sciences [q-bio]/Bioengineering/Imaging, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: 1936-959X (Electronic) 0195-6108 (Linking) Controlled Clinical Trial Journal Article Research Support, Non-U.S. Gov't; International audience; BACKGROUND AND PURPOSE: The physiopathologic bases underlying the signal intensity changes and reduced diffusibility observed in prion diseases (TSEs) are still poorly understood. We evaluated the interest of MRS combined with DWI both as a diagnostic tool and a way to understand the mechanism underlying signal intensity and ADC changes in this setting. MATERIALS AND METHODS: We designed a prospective study of multimodal MR imaging in patients with suspected TSEs. Forty-five patients with a suspicion of TSE and 11 age-matched healthy volunteers were included. The MR imaging protocol included T1, FLAIR, and DWI sequences. MRS was performed on the cerebellum, pulvinar, right lenticular nucleus, and frontal cortex. MR images were assessed visually, and ADC values were calculated. RESULTS: Among the 45 suspected cases, 31 fulfilled the criteria for probable or definite TSEs (19 sCJDs, 3 iCJDs, 2 vCJDs, and 7 genetic TSEs); and 14 were classified as AltDs. High signals in the cortex and/or basal ganglia were observed in 26/31 patients with TSEs on FLAIR and 29/31 patients on DWI. In the basal ganglia, high DWI signals corresponded to a decreased ADC. Metabolic alterations, increased mIns, and decreased NAA were observed in all patients with TSEs. ADC values and metabolic changes were not correlated; this finding suggests that neuronal stress (vacuolization), neuronal loss, and astrogliosis do not alone explain the decrease of ADC. CONCLUSIONS: MRS combined with other MR imaging is of interest in the diagnosis of TSE and provides useful information for understanding physiopathologic processes underlying prion diseases.
Published: 2010
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