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1. The Pattern of Brain Amyloid Load in Posterior Cortical Atrophy Using 18F-AV45: Is Amyloid the Principal Actor in the Disease

Author

Emilie Beaufils, Maria Joao Ribeiro, Emilie Vierron, Johnny Vercouillie, Diane Dufour-Rainfray, Jean-Philippe Cottier, Vincent Camus, Karl Mondon, Denis Guilloteau, and Caroline Hommet

Subjects
Positron emission tomography, Amyloid, Biomarker, Posterior cortical atrophy, Alzheimer’s disease, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
Abstract

Background: Posterior cortical atrophy (PCA) is characterized by progressive higher-order visuoperceptual dysfunction and praxis declines. This syndrome is related to a number of underlying diseases, including, in most cases, Alzheimer's disease (AD). The aim of this study was to compare the amyloid load with 18F-AV45 positron emission tomography (PET) between PCA and AD subjects. Methods: We performed 18F-AV45 PET, cerebrospinal fluid (CSF) biomarker analysis and a neuropsychological assessment in 11 PCA patients and 12 AD patients. Results: The global and regional 18F-AV45 uptake was similar in the PCA and AD groups. No significant correlation was observed between global 18F-AV45 uptake and CSF biomarkers or between regional 18F-AV45 uptake and cognitive and affective symptoms. Conclusion: This 18F-AV45 PET amyloid imaging study showed no specific regional pattern of cortical 18F-AV45 binding in PCA patients. These results confirm that a distinct clinical phenotype in amnestic AD and PCA is not related to amyloid distribution.

Published
2014
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2. Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Author

Schramm, Catherine, Charbonnier, Camille, Zaréa, Aline, Lacour, Morgane, Wallon, David, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Alarcon, Flora, Campion, Dominique, Nuel, Grégory, Nicolas, Gaël, Collaborators Daniela Andriuta, Pierre, Anthony, Sophie, Auriacombe, Anna-Chloé, Balageas, Guillaume, Ballan, Mélanie, Barbay, Emilie, Beaufils, Yannick, Béjot, Serge, Belliard, Marie, Benaiteau, Karim, Bennys, Frédéric, Blanc, Stéphanie, Bombois, Claire Boutoleau Bretonnière, Pierre, Branger, Jasmine, Carlier, Leslie, Cartz-Piver, Pascaline, Cassagnaud, Giovanni, Castelnovo, Christine, Champion, Annabelle, Chaussenot, Mathieu, Ceccaldi, Valérie, Chauviré, Yaohua, Chen, Julien, Cogez, Emmanuel, Cognat, Fabienne, Contegal-Callier, Lea, Corneille, Philippe, Couratier, Hélène, Courtemanche, Benjamin, Cretin, Charlotte, Crinquette, Bernard, Croisille, Benjamin, Dauriat, Sophie, Dautricourt, Vincent de la Sayette, Astrid De Liège, Marie De Verdal, Didier, Deffond, Benoit, Delpont, Florence, Demurger, Vincent, Deramecourt, Céline, Derollez, Mira, Didic, Giulia, Diemert, Elsa, Dionet, Philippe, Diraison, Aude, Doan, Martine Doco Fenzy, Boris, Dufournet, Julien, Dumurgier, Hélène, Durand, Anas, Dutray, Frédérique, Etcharry-Bouyx, Maté, Formaglio, Audrey, Gabelle, Anne, Gainche-Salmon, Jean-Claude, Getenet, Emmanuelle, Ginglinger, Olivier, Godefroy, Mathilde, Graber, Chloé, Gregoire, Stephan, Grimaldi, Julien, Gueniat, Claude, Gueriot, Sophie, Haffen, Lorraine, Hamelin, Didier, Hannequin, Cezara, Hanta, Clémence, Hardy, Geoffroy, Hautecloque, Camille, Heitz, Claire, Hourregue, Thérèse, Jonveaux, Snejana, Jurici, Catia, Khoumri, Lejla, Koric, Pierre, Krolak-Salmon, Pierre, Labauge, Morgane, Lacour, Julien, Lagarde, Hélène-Marie, Lanoiselée, Brice, Laurens, Isabelle Le Ber, Gwenaël Le Guyader, Amélie, Leblanc, Thibaud, Lebouvier, Anas, Lippi, Marie-Anne, Mackowiak, Eloi, Magnin, Cecilia, Marelli, Olivier, Martinaud, Aurélien, Maureille, Emilie, Milongo-Rigal, Sophie, Mohr, Hélène, Mollion, Olivier, Moreaud, Alexandre, Morin, Gaël, Nicolas, Julia, Nivelle, Camille, Noiray, Elisabeth, Ollagnon-Roman, Claire, Paquet, Jérémie, Pariente, Florence, Pasquier, Alexandre, Perron, Nathalie, Philippi, Virginie, Pichon, Vincent, Planche, Céline, Poirsier, Marie, Rafiq, Pauline, Rod-Olivieri, Adeline, Rollin-Sillaire, Carole, Roué-Jagot, Dario, Saracino, Marie, Sarazin, Mathilde, Sauvée, François, Sellal, Lila Sirven Villaros, Christel, Thauvin, Camille, Tisserand, Christophe, Tomasino, Cédric, Turpinat, Laurène Van Damme, Olivier, Vercruysse, Alice, Voilly, Nathalie, Wagemann, David, Wallon, Aline, Zarea, Shahzad, Ahmad, Philippe, Amouyel, Claudine, Berr, Anne, Boland, Paola, Bossu, Femke, Bouwman, Jose, Bras, Dominique, Campion, Camille, Charbonnier, Jordi, Clarimon, Antonio, Daniele, Jean-François, Dartigues, Stéphanie, Debette, Jean-François, Deleuze, Nicola, Denning, Oriol, Dols-Icardo, Nick, C Fox, Daniela, Galimberti, Emmanuelle, Génin, Hans, Gille, Benjamin, Grenier-Boley, Detelina, Grozeva, Rita, Guerreiro, John, J Hardy, Clive, Holmes, Henne, Holstege, Marc, Hulsman, Holger, Hummerich, M Arfan Ikram, M Kamran Ikram, Iris, Jansen, Amit, Kawalia, Robert, Kraaij, Jean-Charles, Lambert, Marc, Lathrop, Afina, W Lemstra, Alberto, Lleo, Lauren, Luckcuck, Marcel M A, M Mannens, Rachel, Marshall, Carlo, Masullo, Simon, Mead, Mecocci, Patrizia, Alun, Meggy, Merel, O Mol, Kevin, Morgan, Benedetta, Nacmias, Penny, J Norsworthy, Pau, Pastor, Olivier, Quenez, Alfredo, Ramirez, Rachel, Raybould, Richard, Redon, Marcel J, T Reinders, Anne-Claire, Richard, Steffi, G Riedel-Heller, Fernando, Rivadeneira, Stéphane, Rousseau, Natalie, S Ryan, Salha, Saad, Pascual, Sanchez-Juan, Philip, Scheltens, Jonathan, M Schott, Davide, Seripa, Daoud, Sie, Rebecca, Sims, Erik, Sistermans, Sandro, Sorbi, Resie van Spaendonk, Gianfranco, Spalleta, Nicćolo, Tesi, Betty, Tijms, André, G Uitterlinden, Wiesje, M van der Flier, Sven, J van der Lee, Cornelia, M van Duijn, Jeroen G, J van Rooij, John, C van Swieten, Pieter, J de Visser, Michael, Wagner, and Julie, Williams

Subjects
Genotype, Membrane Transport Proteins, Penetrance, Lifetime risk, Pedigree, Expectation-maximization algorithm, Settore MED/26 - NEUROLOGIA, Apolipoproteins E, Missing genotypes, Alzheimer Disease, Case-Control Studies, SORL1, Alzheimer, Genetics, Humans, Molecular Medicine, Molecular Biology, LDL-Receptor Related Proteins, APOE, Genetics (clinical)
Abstract

Background Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance is essential before putative use for genetic counseling or preventive trials. However, relative rarity and co-occurrence with the main AD risk factor, APOE-ε4, make such estimations difficult. Methods We proposed to estimate the age-related penetrance of SORL1-LoF variants through a survival framework by estimating the conditional instantaneous risk combining (i) a baseline for non-carriers of SORL1-LoF variants, stratified by APOE-ε4, derived from the Rotterdam study (N = 12,255), and (ii) an age-dependent proportional hazard effect for SORL1-LoF variants estimated from 27 extended pedigrees (including 307 relatives ≥ 40 years old, 45 of them having genotyping information) recruited from the French reference center for young Alzheimer patients. We embedded this model into an expectation-maximization algorithm to accommodate for missing genotypes. To correct for ascertainment bias, proband phenotypes were omitted. Then, we assessed if our penetrance curves were concordant with age distributions of APOE-ε4-stratified SORL1-LoF variant carriers detected among sequencing data of 13,007 cases and 10,182 controls from European and American case-control study consortia. Results SORL1-LoF variants penetrance curves reached 100% (95% confidence interval [99–100%]) by age 70 among APOE-ε4ε4 carriers only, compared with 56% [40–72%] and 37% [26–51%] in ε4 heterozygous carriers and ε4 non-carriers, respectively. These estimates were fully consistent with observed age distributions of SORL1-LoF variant carriers in case-control study data. Conclusions We conclude that SORL1-LoF variants should be interpreted in light of APOE genotypes for future clinical applications.

Published
2022

3. Follow-up of adults with noncritical COVID-19 two months after symptom onset

Author

Louis Bernard, Franck Bruyère, Céline Bourbao-Tournois, Nicole Ferreira-Maldent, Leslie Grammatico-Guillon, Adrien Lemaignen, Said Laribi, Thomas Flament, Claudia Carvalho-Schneider, Catherine Gaudy-Graffin, Karl Stefic, E. Laurent, Emilie Beaufils, and Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)

Subjects
Adult, Male, 0301 basic medicine, Microbiology (medical), myalgia, Pediatrics, medicine.medical_specialty, Anosmia, [SDV]Life Sciences [q-bio], 030106 microbiology, Chest pain, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Weight loss, Palpitations, medicine, Humans, 030212 general & internal medicine, ComputingMilieux_MISCELLANEOUS, Aged, SARS-CoV-2, business.industry, Medical record, COVID-19, General Medicine, Middle Aged, Ageusia, 3. Good health, Dyspnea, Infectious Diseases, Asthenia, Sick leave, Female, Original Article, France, Symptom Assessment, medicine.symptom, business, Follow-Up Studies
Abstract

Objectives To describe the clinical evolution and predictors of symptom persistence during 2 months' follow-up in adults with noncritical coronavirus disease 2019 (COVID-19). Methods We performed descriptive clinical follow-up (day (D) 7, D30 and D60) of 150 patients with noncritical COVID-19 confirmed by real-time reverse transcriptase PCR at Tours University Hospital from 17 March to 3 June 2020, including demographic, clinical and laboratory data collected from the electronic medical records and by phone call. Persisting symptoms were defined by the presence at D30 or D60 of at least one of the following: weight loss ≥5%, severe dyspnoea or asthenia, chest pain, palpitations, anosmia/ageusia, headache, cutaneous signs, arthralgia, myalgia, digestive disorders, fever or sick leave. Results At D30, 68% (103/150) of patients had at least one symptom; and at D60, 66% (86/130) had symptoms, mainly anosmia/ageusia: 59% (89/150) at symptom onset, 28% (40/150) at D30 and 23% (29/130) at D60. Dyspnoea concerned 36.7% (55/150) patients at D30 and 30% (39/130) at D60. Half of the patients (74/150) at D30 and 40% (52/130) at D60 reported asthenia. Persistent symptoms at D60 were significantly associated with age 40 to 60 years old, hospital admission and abnormal auscultation at symptom onset. At D30, severe COVID-19 and/or dyspnoea at symptom onset were additional factors associated with persistent symptoms. Conclusions Up to 2 months after symptom onset, two thirds of adults with noncritical COVID-19 had complaints, mainly anosmia/ageusia, dyspnoea or asthenia. A prolonged medical follow-up of patients with COVID-19 seems essential, whatever the initial clinical presentation.

Published
2021

4. Diabetes mellitus and cognition: A pathway analysis in the MEMENTO cohort

Author

Eric, Frison, Cecile, Proust-Lima, Jean-Francois, Mangin, Marie-Odile, Habert, Stephanie, Bombois, Pierre-Jean, Ousset, Florence, Pasquier, Olivier, Hanon, Claire, Paquet, Audrey, Gabelle, Mathieu, Ceccaldi, Cédric, Annweiler, Pierre, Krolak-Salmon, Yannick, Béjot, Catherine, Belin, David, Wallon, Mathilde, Sauvee, Emilie, Beaufils, Isabelle, Bourdel-Marchasson, Isabelle, Jalenques, Marie, Chupin, Geneviève, Chêne, Carole, Dufouil, Jean, Zinszner, Bordeaux population health (BPH), 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), CATI Multicenter Neuroimaging Platform (CATI), IFR49 - Neurospin - CEA, Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire d'Imagerie Biomédicale [Paris] (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), 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), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Centre Mémoire de Ressources et de Recherche [Lille-Bailleul] (CMRR), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Hôpital Roger Salengro [Lille], Groupe hospitalier Broca, Optimisation thérapeutique en Neuropsychopharmacologie (OPTeN (UMR_S_1144 / U1144)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Université de Nantes - UFR Lettres et Langages (UFRLL), Université de Nantes (UN)-Université de Nantes (UN), University of Western Ontario (UWO), 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), Physiopathologie et épidémiologie cérébro-cardiovasculaire [Dijon] (PEC2), Université de Bourgogne (UB)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Hopital Saint-Louis [AP-HP] (AP-HP), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Mémoire de Ressources et de Recherche [Grenoble] (CMRR), Centre Hospitalier Universitaire [Grenoble] (CHU), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre de résonance magnétique des systèmes biologiques (CRMSB), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Université Clermont Auvergne (UCA), 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), Support within the 'Investissement d'Avenir' (ANR-10-AIHU-06) program., Gestionnaire, Hal Sorbonne Université, Service de Médecine nucléaire [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire d'Imagerie Biomédicale (LIB), Institut de la Mémoire et de la Maladie d'Alzheimer [CHU Pitié-Salpétriêre] (IM2A), Université Fédérale Toulouse Midi-Pyrénées, Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de médecine nucléaire [CHU Pitié-Salpétrière], Institut de la Mémoire et de la Maladie d'Alzheimer [Paris] (IM2A), Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), 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)-Aix Marseille Université (AMU), Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, [SDV]Life Sciences [q-bio], Comorbidity, Neuropsychological Tests, Cohort Studies, Alzheimer Disease, Diabetes Mellitus, Humans, Cognitive Dysfunction, Aged, Aged, 80 and over, Amyloid beta-Peptides, Magnetic Resonance Imaging, [SDV] Life Sciences [q-bio], Cerebral Small Vessel Diseases, Positron-Emission Tomography, Nerve Degeneration, Female, France, Biomarkers, Research Article
Abstract

International audience; Objective: To assess the role of biomarkers of Alzheimer's Disease (AD), neurodegeneration and small vessel disease (SVD) as mediators in the association between diabetes mellitus and cognition.Methods: The study sample was derived from MEMENTO, a cohort of French adults recruited in memory clinics and screened for either isolated subjective cognitive complaints or mild cognitive impairment. Diabetes was defined based on blood glucose assessment, use of antidiabetic agent or self-report. We used structural equation modelling to assess whether latent variables of AD pathology (PET mean amyloid uptake, Aβ42/Aβ40 ratio and CSF phosphorylated tau), SVD (white matter hyperintensities volume and visual grading), and neurodegeneration (mean cortical thickness, brain parenchymal fraction, hippocampal volume, and mean fluorodeoxyglucose uptake) mediate the association between diabetes and a latent variable of cognition (five neuropsychological tests), adjusting for potential confounders.Results: There were 254 (11.1%) participants with diabetes among 2,288 participants (median age 71.6 years; 61.8% women). The association between diabetes and lower cognition was significantly mediated by higher neurodegeneration (standardized indirect effect: -0.061, 95% confidence interval: -0.089; -0.032), but not mediated by SVD and AD markers. Results were similar when considering latent variables of memory or executive functioning.Conclusion: In a large clinical cohort in the elderly, diabetes is associated with lower cognition through neurodegeneration, independently of SVD and AD biomarkers.

Published
2021

5. The contributions of metabolomics in the discovery of new therapeutic targets in Alzheimer's disease

Author

Laura Foucault-Fruchard, Sylvie Chalon, Patrick Emond, Sylvie Mavel, Emilie Beaufils, Anna-Chloé Balageas, Rayhanatou Altiné-Samey, Daniel Antier, and Diane Dufour-Rainfray

Subjects
Central nervous system, Glutamic Acid, Disease, Bioinformatics, Arginine, 030226 pharmacology & pharmacy, 03 medical and health sciences, 0302 clinical medicine, Metabolomics, Alzheimer Disease, medicine, Dementia, Animals, Humans, Pharmacology (medical), Pathological, Pharmacology, Aspartic Acid, Alanine, business.industry, Neurodegeneration, Cognition, medicine.disease, Rats, Disease Models, Animal, medicine.anatomical_structure, Biomarker (medicine), business, 030217 neurology & neurosurgery, Biomarkers
Abstract

Alzheimer's disease (AD) leads to the progressive loss of memory and other cognitive functions. It is the most common form of dementia in the elderly and has become a major public health problem due to the increase in life expectancy. Although the detection of AD is based on several neuropsychological tests, imaging, and biological analyses, none of these biomarkers allows a clear understanding of the pathophysiological mechanisms involved in the disease, and no efficient treatment is currently available. Metabolomics, which allows the study of biochemical alterations underlying pathological processes, could help to identify these mechanisms, to discover new therapeutic targets, and to monitor the therapeutic response and disease progression. In this review, we have summarized and analyzed the results from a number of studies on metabolomics analyses performed in biological samples originated from the central nervous system, in AD subjects, and in animal models of this disease. This synthesis revealed modified expression of specific metabolites in pathological conditions which allowed the identification of significantly impacted metabolic pathways both in animals and humans, such as the arginine biosynthesis and the alanine, aspartate, and glutamate metabolism. We discuss the potential biochemical mechanisms involved, the extent to which they could impact the specific hallmarks of AD, and the therapeutic approaches which could be proposed as a result.

Published
2021

6. Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations Authors

Author

Florence Cormier, Timothée Lenglet, Alexis Brice, Jean-Christophe Corvol, Fabienne Clot, Vincent Deramecourt, Karl Mondon, Dario Saracino, Stéphane Thobois, Vincent Huin, Aurélie Méneret, Emilie Beaufils, Cécile Delorme, Audrey Gabelle, Fábio Carneiro, Marie Vidailhet, Isabelle Le Ber, Mélissa Tir, Marie-Odile Habert, Daniela Andriuta, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Algorithms, models and methods for images and signals of the human brain (ARAMIS), Sorbonne Université (SU)-Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-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), Lille Neurosciences & Cognition - U 1172 (LilNCog (ex-JPARC)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), UF Neurométabolique Bioclinique et Génétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université de Tours (UT), Service de neurologie [Amiens], CHU Amiens-Picardie, Excellence Laboratory LabEx DISTALZ, The research leading to these results received funding from the 'Investissements d'avenir' ANR-11-INBS-0011. This work was funded by the Programme Hospitalier de Recherche Clinique (PHRC) FTLD-exome (to ILB, promotion by Assistance Publique – Hôpitaux de Paris) and by PHRC Predict-PGRN (to ILB, promotion by Assistance Publique – Hôpitaux de Paris)., Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut du Cerveau = Paris Brain Institute (ICM), 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)-Centre National de la Recherche Scientifique (CNRS), Lille Neurosciences & Cognition - U 1172 (LilNCog), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (ISC-MJ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Imagerie Biomédicale [Paris] (LIB), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), ANR-16-IDEX-0006,MUSE,MUSE(2016), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Gestionnaire, HAL Sorbonne Université 5, Service de neurologie 1 [CHU Pitié-Salpétrière], Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Université de Tours

Subjects
Male, 0301 basic medicine, Parkinson's disease, TDP-43, Disease, Bioinformatics, Progranulins, 0302 clinical medicine, C9orf72, Age of Onset, Family history, PSP, Parkinsonism, Parkinson Disease, FTD, Middle Aged, Pedigree, 3. Good health, Neurology, Frontotemporal Dementia, Neurons and Cognition (q-bio.NC), [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], FTLD, GRN, Frontotemporal dementia, CBS, 03 medical and health sciences, Parkinsonian Disorders, medicine, Humans, Dementia, Cognitive Dysfunction, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Aged, C9orf72 Protein, business.industry, medicine.disease, nervous system diseases, 030104 developmental biology, Quantitative Biology - Neurons and Cognition, FOS: Biological sciences, Mutation, Etiology, Neurology (clinical), Geriatrics and Gerontology, business, 030217 neurology & neurosurgery
Abstract

Introduction A phenotype of isolated parkinsonism mimicking Idiopathic Parkinson's Disease (IPD) is a rare clinical presentation of GRN and C9orf72 mutations, the major genetic causes of frontotemporal dementia (FTD). It still remains controversial if this association is fortuitous or not, and which clinical clues could reliably suggest a genetic FTD etiology in IPD patients. This study aims to describe the clinical characteristics of FTD mutation carriers presenting with IPD phenotype, provide neuropathological evidence of the mutation's causality, and specifically address their “red flags” according to current IPD criteria. Methods Seven GRN and C9orf72 carriers with isolated parkinsonism at onset, and three patients from the literature were included in this study. To allow better delineation of their phenotype, the presence of supportive, exclusion and “red flag” features from MDS criteria were analyzed for each case. Results Amongst the ten patients (5 GRN, 5 C9orf72), seven fulfilled probable IPD criteria during all the disease course, while behavioral/language or motoneuron dysfunctions occurred later in three. Disease duration was longer and dopa-responsiveness was more sustained in C9orf72 than in GRN carriers. Subtle motor features, cognitive/behavioral changes, family history of dementia/ALS were suggestive clues for a genetic diagnosis. Importantly, neuropathological examination in one patient revealed typical TDP-43-inclusions without alpha-synucleinopathy, thus demonstrating the causal link between FTD mutations, TDP-43-pathology and PD phenotype. Conclusion We showed that, altogether, family history of early-onset dementia/ALS, the presence of cognitive/behavioral dysfunction and subtle motor characteristics are atypical features frequently present in the parkinsonian presentations of GRN and C9orf72 mutations.

Published
2020

7. An automated alert system based on the p-Tau/Tau ratio to quickly inform health professionals upon a suspected case of sporadic Creutzfeldt-Jakob disease

Author

Virginie Morange, Jean Baptiste Delaye, Isabelle Quadrio, Coline Duwicquet, Anna Chloé Balageas, Diane Dufour-Rainfray, Laura Foucault-Fruchard, Emilie Beaufils, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Mémoire de Ressources et de Recherche [CHRU de Tours Hôpital Bretonneau], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau [Tours], Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), CCSD, Accord Elsevier, Centre de recherche en neurosciences de Lyon (CRNL), and 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)

Subjects
Hygiene measures, medicine.medical_specialty, [SDV]Life Sciences [q-bio], tau Proteins, Disease, Creutzfeldt-Jakob Syndrome, 03 medical and health sciences, 0302 clinical medicine, Alert system, mental disorders, medicine, Humans, 030212 general & internal medicine, Iatrogenic transmission, Intensive care medicine, Retrospective Studies, Health professionals, business.industry, Medical practice, Retrospective cohort study, Sporadic Creutzfeldt-Jakob disease, Creutzfeldt-Jakob disease, 3. Good health, [SDV] Life Sciences [q-bio], Clinical Practice, Neurology, 14-3-3 Proteins, Neurology (clinical), business, 030217 neurology & neurosurgery, Biomarkers
Abstract

International audience; Introduction: Knowing the risk of potential sporadic Creutzfeldt-Jakob disease (sCJD) instrument-contamination is essential in hospitals. We examined the relevance of the p-Tau/Tau ratio to exclude a probable case of sCJD in clinical practice, and we established an alert system to quickly inform health professionals in case of positivity.Methods: This retrospective study was conducted on 143 cerebrospinal fluid samples from patients suspected for sCJD. The distinction between probable cases of sCJD and other patients was based on clinical, paraclinical and biological (14-3-3, Tau, p-Tau, Aβ 1-42) data. From this experience, the health professionals developed an alert system to be implemented upon a suspected case of sCJD.Results: A significant decrease in p-Tau/Tau ratio between sCJD and the other diseases was observed (p < 0 .001). The combined Tau test presented a sensitivity higher than 14-3-3 (100% versus 92.3%, p =0 .006) and an equivalent specificity (90% versus 96.1%). The time required for obtaining results was higher for 14-3-3 due to the centralization of investigations in some laboratories (3 weeks versus 2 h). In the presence of these elements, the triggering of the alert system was based on the p-Tau/Tau ratio. This system involves sending an automatic mail to the hospital department involved in the patient's care and the hospital hygiene team, which oversees the application of the procedures.Conclusion: The p-Tau/Tau concentrations present the desired criteria for use in current medical practice to fight against iatrogenic transmission. The alert system confirms a probable case of sCJD instantly to health professionals. Hygiene and sterilization measures can be applied immediately.

Published
2020

8. Amyloid PET Positivity in Different Primary Progressive Aphasia Phenotypes

Author

Denis Guilloteau, Johnny Vercouillie, Vincent Camus, Karl Mondon, Maria Joao Ribeiro, Caroline Hommet, Jean-Philippe Cottier, Emilie Beaufils, and Emilie Vierron

Subjects
Male, 0301 basic medicine, Amyloid, medicine.medical_specialty, Gastroenterology, Primary progressive aphasia, 03 medical and health sciences, 0302 clinical medicine, Aphasia, Internal medicine, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Aged, Retrospective Studies, Aged, 80 and over, Temporal cortex, Aniline Compounds, medicine.diagnostic_test, business.industry, Reproducibility of Results, Biological Transport, Retrospective cohort study, General Medicine, Middle Aged, respiratory system, medicine.disease, Aphasia, Primary Progressive, Phenotype, 030104 developmental biology, Positron emission tomography, Positron-Emission Tomography, Posterior cingulate, Cohort, Ethylene Glycols, Female, medicine.symptom, Alzheimer's disease, business, 030217 neurology & neurosurgery
Abstract

Purpose Primary progressive aphasia (PPA) is a neurological syndrome in which language functions become progressively impaired with relative sparing of memory and other instrumental functions. The pathologic causes of PPA are heterogeneous, but studies suggest that logopenic PPA (LPA) is underpinned by Alzheimer disease (AD) pathology in a high proportion of cases. The purposes of this descriptive and retrospective study were to characterize F-florbetapir PET imaging in a group of patients with a clinical syndrome of PPA, to determine the value of clinical characterization based on language phenotype in predicting the underlying pathology of PPA with F-florbetapir, and to quantify amyloid load in PPA subjects classified as "positive" F-florbetapir scans. Then, we compare the quantification and distribution of F-florbetapir uptake with those of typical, predominantly amnestic AD patients. Methods We conducted a PET study with F-florbetapir in a cohort of 12 right-handed patients diagnosed with PPA: 3 patients with semantic-variant PPA, 5 with nonfluent PPA, 1 with LPA, and 3 unclassifiable patients. We evaluated amyloid deposition between APP groups and 11 patients with typical amnestic AD. Results Among the 12 patients with PPA syndrome, 8 (66.7%) were considered as amyloid positive. One of the 3 patients with semantic-variant PPA was F-florbetapir positive. In contrast, 4 of the 5 nonfluent-variant PPA, 2 of the 3 unclassifiable cases and the single patient with LPA were F-florbetapir positive. A significantly higher F-florbetapir uptake was observed in PPA F-florbetapir-positive patients compared with typical AD patients. This difference was observed in all regions of interest, except in posterior cingulate and temporal cortex. Conclusions These results suggest that F-florbetapir PET may be useful in a routine clinical procedure to improve the reliability of identifying AD pathology in patients with PPA syndrome, with different clinical subtypes of the PPA syndrome.

Published
2018

9. Densité des dépôts de la protéine Tau versus activité métabolique cortico-cérébrale chez des patients atteints de maladie d’Alzheimer ou de pathologies apparentées

Author

A.-C. Balageas, Anne-Claire Dupont, S. Maia, Nicolas Arlicot, Johnny Vercouillie, M.J. Santiago Ribeiro, Emilie Beaufils, H. Pasquesoone, and Valérie Gissot

Subjects
Radiological and Ultrasound Technology, Biophysics, Radiology, Nuclear Medicine and imaging
Abstract

Les depots extracellulaires de plaques seniles principalement constituees de proteine Aβ et les lesions intracellulaires ou degenerescences neurofibrillaires (DFN) constituees de proteine tau hyperphosphorylee sont caracteristiques de maladie d’Alzheimer (MA). Ces lesions caracteristiques se developpent bien en amont des premiers symptomes. Les lesions de DNF semblent correlees a la symptomatologie clinique et permettent de classer la maladie d’Alzheimer en stades neuropathologiques. Ces dernieres annees, des radioligands specifiques de la proteine tau ont ete developpes permettant de realiser une imagerie in vivo de la distribution et de la densite des lesions de DNF. Dans cette etude, nous avons evalue le profil de fixation (densite et distribution cerebrale) des agregats tau a l’aide de la TEP au [18F]-AV-1451 ([18F]-T807 ou flortaucipir ou Tauvid®) chez un groupe de 9 patients avec diagnostic clinique de MA ou de pathologie neurodegenerative apparentee mais de profil evolutif tres variable (MMS ente 15 et 25). Tous les sujets ont egalement beneficie d’une TEP au [18F]-FDG afin d’evaluer leur activite metabolique neuronale. Pour chaque sujet, l’intensite de fixation du [18F]-T807 et le degre d’hypometabolisme ont ete quantifies visuellement en 5 niveaux pour chaque region corticale predefinie. Quatre sujets avaient un tableau hypometabolique confortant leur diagnostic et qui, par ailleurs, concordait avec la distribution de la DNF. Pour 4 autres sujets, 2 ne presentaient ni un hypometabolisme ni un tableau de DFN significatifs et les 2 autres presentaient un hypometabolisme predominant dans le cortex fronto-temporal sans lesion significative de DNF. Le 9eme sujet presentait un hypometabolisme cortical diffus avec peu de lesions de DNF. Malgre un nombre tres limite de sujets, ces resultats semblent confirmer le lien etroit entre la presence de lesions de DNF visibles en imagerie TEP tau et le profil clinique et metabolique dans la MA et pathologies apparentees.

Published
2021

10. What is the clinical impact of cerebrospinal fluid biomarkers on final diagnosis and management in patients with mild cognitive impairment in clinical practice? Results from a nation-wide prospective survey in France

Author

Philippe Robert, Jacques Hugon, David Wallon, Bernard Croisile, Alain Jager, Emilie Beaufils, Florence Pasquier, Claire Paquet, Frédéric Blanc, Eloi Magnin, François Mouton Liger, Emmanuelle Duron, Susanna Schraen, Didier Hannequin, Anne-Cécile Troussière, Vincent de la Sayette, Julien Dumurgier, Muriel Quillard, Nathalie Philippi, Carole Miguet-Alfonsi, Audrey Gabelle, Elodie Bouaziz-Amar, Emmanuel Cognat, Optimisation thérapeutique en Neuropsychopharmacologie (OPTeN (UMR_S_1144 / U1144)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), 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), Université Lille Nord (France), 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), CHU Rouen, Normandie Université (NU), Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Groupe hospitalier Broca, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hospices Civils de Lyon, Departement de Neurologie (HCL), Neuropsychologie cognitive et neuroanatomie fonctionnelles de la mémoire humaine, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-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), Service de Neurologie [CHU Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre hospitalier régional Metz-Thionville (CHR Metz-Thionville), Laboratoire de Neuroimagerie in Vivo (LNV), CHU Strasbourg-Centre National de la Recherche Scientifique (CNRS), CHU Strasbourg, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC)-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), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre d'Investigation Clinique [CHU Rouen] (CIC Rouen), Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Troubles cognitifs dégénératifs et vasculaires - U 1171 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de neurologie [Rouen], Normandie Université (NU)-Normandie Université (NU), Centre Hospitalier Universitaire de Nice (CHU Nice), Service d'Histologie, cytologie, cytogénétique, biologie cellulaire [CHU Limoges], CHU Limoges, Institut du Fer à Moulin, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Salvy-Córdoba, Nathalie, Normandie Université (NU)-Normandie Université (NU)-École Pratique des Hautes Études (EPHE), Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], 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 de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Charles Nicolle [Rouen]-CHU Rouen, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Matériaux et nanosciences d'Alsace (FMNGE), Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, and Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS)

Subjects
Male, medicine.medical_specialty, Databases, Factual, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Disease, Clinical practice, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Alzheimer Disease, Internal medicine, Surveys and Questionnaires, medicine, Humans, In patient, Cognitive Dysfunction, 030212 general & internal medicine, Prospective Studies, Stage (cooking), Cognitive impairment, Aged, medicine.diagnostic_test, Lumbar puncture, business.industry, Research, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Mild cognitive impairment, General Medicine, Confidence interval, 3. Good health, Clinical Practice, Neurology, Disease Progression, Female, France, business, Alzheimer’s disease, 030217 neurology & neurosurgery, Biomarkers
Abstract

ObjectivesNew diagnostic criteria for Alzheimer’s disease (AD) include cerebrospinal fluid (CSF) biomarkers that allow diagnosis at the stage of mild cognitive impairment (MCI). However, the impact of CSF biomarkers in MCI populations in clinical practice has been poorly evaluated. The objective of this study is to assess the use and impact in clinical practice of AD CSF biomarkers in French memory clinics.DesignWe performed a nation-wide, prospective survey between March 2012 and September 2014. Data over the same period was extracted from the French National Database (Banque Nationale Alzheimer, BNA) and compared with the results of the survey.Setting29 secondary and tertiary memory clinics in France.ParticipantsClinicians prescribing lumbar puncture (LP) in order to measure AD CSF biomarkers. Clinicians completed a two-part questionnaire for each of their patients undergoing LP.Primary and secondary outcome measuresAssessment of diagnosis, level of confidence before and after CSF biomarkers and impact on management in patients who underwent LP for CSF AD biomarkers in clinical routine.Results977 questionnaires were completed, of which 61 were excluded because of unknown initial/final diagnosis or non-contributory CSF results. Of 916 patients reported, 153 (16.7%) had MCI as the initial diagnosis, of which 51 (33.3%) displayed an AD profile. CSF biomarkers resulted in a change in diagnosis in 44 patients (28.8%). Confidence level significantly increased after LP (8.3±1.4vs 6.73±1.18, pConclusionThis nation-wide survey, reflecting clinical practice in French memory clinics, describes the impact of CSF AD biomarkers in patients with MCI in clinical practice.

Published
2019

11. Limiting Factors of Brain Donation in Neurodegenerative Diseases: The Example of French Memory Clinics

Author

Vincent Deramecourt, Jacques Touchon, Caroline Hommet, Cecilia Marelli, Claudine Berr, Emilie Beaufils, Florence Pasquier, Raphaël Le Bouc, Troubles cognitifs dégénératifs et vasculaires - U 1171 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), and Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Health Knowledge, Attitudes, Practice, medicine.medical_specialty, brain donation, Physicians, brain bank, medicine, Humans, neurodegenerative diseases, postmortem examination, Clinical care, Psychiatry, Retrospective Studies, business.industry, General Neuroscience, Brain, General Medicine, Limiting, 3. Good health, Psychiatry and Mental health, Clinical Psychology, Donation, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Critical assessment, Brain bank, Autopsy, France, Geriatrics and Gerontology, business, Negative reaction, Alzheimer’s disease
Abstract

International audience; Postmortem neuropathological examination of the brain is essential in neurodegenerative diseases, to ensure accurate diagnosis, to obtain an a posteriori critical assessment of the adequacy of clinical care, and to validate new biomarkers, but is only rarely performed. The purpose of this study was to assess factors limiting brain donation, such as reluctance of physicians to seek donation consent, opposition from patients and families, and organizational constraints. We conducted a survey across French memory clinics and major neuropathological centers. Few postmortem examinations were performed annually, as less than one third of the centers had performed at least five autopsies, and 41% had performed none. The main limiting factor was the lack of donation requests made by physicians, as half of them never approach patients for brain donation. Reasons for not seeking donation consent often include discomfort broaching the subject and lack of awareness of the medical and scientific benefit of postmortems (77%), organizational constraints (61%), and overestimation of families' negative reaction (51%). Family refusals represented a second major obstacle, and were often caused by misconceptions. Identifying and addressing these biases early could help improve physicians' rate of making requests and the public's awareness about the importance of brain donation.

Published
2016

12. Évaluation de la faisabilité de l’analyse quantitative combinée de la TEP 18F-FDG et de l’IRM dans la maladie d’Alzheimer avec FreeSurfer. Exemple de l’hippocampe

Author

Vincent Camus, Christophe Destrieux, Jean-Philippe Cottier, Karl Mondon, Denis Guilloteau, Matthieu Bailly, M.J. Santiago Ribeiro, Caroline Hommet, and Emilie Beaufils

Subjects
Radiological and Ultrasound Technology, Biophysics, Radiology, Nuclear Medicine and imaging
Abstract

Resume Objectif L’objectif de l’etude est d’evaluer l’utilisation du logiciel FreeSurfer pour l’analyse de la volumetrie IRM et de l’hypometabolisme glucidique en TEP temporale interne dans les troubles cognitifs legers (MCI) et la maladie d’Alzheimer (MA). Patients Vingt et un sujets (7 MA, 6 MCI, 8 temoins) ont ete inclus. Une IRM et une TEP au 18 F-FDG cerebrales (activite moyenne : 185 MBq) ont ete realisees. Les images IRM ponderees en T1 ont ete segmentees automatiquement a l’aide du logiciel gratuit FreeSurfer ( http://surfer.nmr.mgh.harvard.edu/ ). Les images TEP ont ete recalees a l’IRM. Pour chaque region d’interet (hippocampe et amygdale), le volume cerebral normalise par rapport au volume cerebral total, ainsi que l’intensite maximale de fixation du 18 F-FDG normalisee par rapport a la fixation cerebelleuse ont ete analyses. Resultats Le volume hippocampique normalise moyen (± deviation standard [DS]) est statistiquement different dans les trois groupes : 0,60 ± 0,07 %, 0,64 ± 0,11 % et 0,74 ± 0,07 %, respectivement, pour les sujets MA, MCI et temoins ( p 18 F-FDG normalises (± DS) de 0,83 ± 0,10, 0,72 ± 0,11 et 0,69 ± 0,06 pour les groupes temoins, MCI et MA, respectivement ( p Conclusion Cette etude, utilisant FreeSurfer, verifie la reduction significative du volume hippocampique chez les MCI et les MA, associee a un hypometabolisme glucidique, et suggere son utilisation pour des etudes de volumetrie et de quantification TEP automatiques a grande echelle.

Published
2015

13. [O2–10–05]: SHORT‐TERM PREDICTION OF CONVERSION FROM MILD COGNITIVE IMPAIRMENT TO DEMENTIA IN PATIENTS IN THE MEMENTO COHORT, 2011–2016

Author

Renaud David, Jean-François Mangin, Emilie Beaufils, Clélia Favary, Florence Pasquier, Jacques Hugon, Vincent Bouteloup, Bruno Vellas, Frédéric Blanc, Marie Chupin, Bruno Dubois, Carole Dufouil, Olivier Hanon, Pierre Krolak Salmon, Olivier Rouaud, Mathieu Ceccaldi, Geneviève Chêne, Audrey Gabelle, and François Tison

Subjects
Pediatrics, medicine.medical_specialty, Epidemiology, business.industry, Health Policy, medicine.disease, Term (time), Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Cohort, medicine, Dementia, In patient, Neurology (clinical), Geriatrics and Gerontology, business, Cognitive impairment
Published
2017

14. Perception of taste and smell in normal and pathological aging: an update

Author

Borania Atanasova, Karl Mondon, Emilie Beaufils, and Marine Naudin

Subjects
Aging, Taste, medicine.medical_specialty, media_common.quotation_subject, Population, Anosmia, Olfaction, Audiology, Olfaction Disorders, Taste Disorders, Perception, medicine, Humans, education, Pathological, Biological Psychiatry, Aged, media_common, education.field_of_study, Modalities, business.industry, Taste Perception, Cognition, Olfactory Perception, Neuropsychology and Physiological Psychology, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business
Abstract

The physiological and pathological aging on sense organs is widely studied in the visual and hearing modalities. By contrast, taste and smell changes are widely overlooked. These symptoms are rarely evoked in the elderly and often neglected in clinical practice. Studies in this population are rare and show contradictory results. In this update, we describe the perception of taste and smell in aging. In a first part, we present studies about the aging of smell and taste senses. While taste is remarkably spared during aging, olfaction decreases dramatically since 5th decade of life, frequently resulting in anosmia after 90 years. Numerous causes are evoked: acute conditions (mouth health, medications…) and chronic diseases frequently observed during aging (Alzheimer or Parkinson's diseases) may be responsible of such decline. In the last part, we approach the consequences on geriatric practice, as regards the nutrition of old subjects, including a cognitive approach regarding to perceptual functions and environmental determinants of nutrition. Taste and olfaction disorders should be considered as a geriatric syndrome that geriatricians have to be aware in clinical practice.

Published
2014

15. O4-07-05: NIA-AA RESEARCH FRAMEWORK: APPLICATION TO THE FRENCH POPULATION BY INFERENCE FROM THE MEMENTO COHORT

Author

Cédric Annweiler, Audrey Gabelle, Olivier Hanon, Mathieu Ceccaldi, Armelle Gentric, Pierre Krolak Salmon, Catherine Belin, Marc Paccalin, Yannick Béjot, Emilie Beaufils, Pierre Jean Ousset, Florence Pasquier, Maxime Locatelli, Marie-Odile Habert, Marie Chupin, Claire Paquet, Claire Boutoleau-Bretonnière, François Tison, Vincent Bouteloup, Jean-François Mangin, David Wallon, Bruno Dubois, Carole Dufouil, Geneviève Chêne, and Frédéric Blanc

Subjects
education.field_of_study, Epidemiology, Health Policy, Population, Inference, Genealogy, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Conceptual framework, Cohort, Neurology (clinical), Geriatrics and Gerontology, Psychology, education
Published
2019

16. The effect of age and educational level on the cognitive processes used to comprehend the meaning of pictograms

Author

Bertrand de Toffol, Emilie Vierron, Aurélie Marqué, Emilie Beaufils, Thierry Constans, Karl Mondon, Florence Brault, Charlotte Eudo, and Caroline Hommet

Subjects
Adult, Male, Aging, Geriatrics gerontology, Communication, Age Factors, Logical approach, Cognition, Middle Aged, Executive functions, Pictogram, Test (assessment), Comprehension, Young Adult, Cross-Sectional Studies, Educational Status, Humans, Female, Meaning (existential), Geriatrics and Gerontology, Psychology, Cognitive psychology
Abstract

Pictograms, designed to be a universal communication system, are often created from several concrete and easily recognizable drawings. Does understanding depend on a logical approach? Or is it the ability to inhibit the concrete sense of each picture that allows access to a higher level of comprehension? (ability to abstract). These executive functions are sensitive to the effects of aging and educational level. The aim of our study was to evaluate the nature of the cognitive processes underlying the meaning of pictograms and to test the effect of aging and educational level.We enrolled 19 older adults (60-69 years old) and 63 young adults (20-29 years old). Of these 63 young adults, 43 had a high educational level (Young-High participants), and 20 had a lower educational level (Young-Low participants). Each participant was asked the meaning of 20 pictograms and underwent an assessment of abstraction and logical abilities with WAIS-III test.Older adults had lower pictogram assessment scores and abstraction and logical abilities when compared with young adults. In both groups, abstraction and logical abilities were correlated with the interpretation of pictograms but only abstraction ability remains strongly correlated with pictogram comprehension in the older group after adjustment of sex, age and educational level. Consequently, the poorer performances of older adults to determine the meaning of pictograms could be explained by the decline of abstraction ability in elderly.Pictograms are not the universal communication system as we formerly thought. Age and educational level may influence the performance in determining the meaning of pictograms.

Published
2013

17. Neuroinflammation and β Amyloid Deposition in Alzheimer's Disease: In vivo Quantification with Molecular Imaging

Author

F. Minier, T. Gosselin, Denis Guilloteau, Marc Paccalin, Karl Mondon, N. Arlicot, Philippe Corcia, Sylvie Chalon, Guylène Page, Maria Joao Ribeiro, Caroline Hommet, Emilie Beaufils, and Vincent Camus

Subjects
Cognitive Neuroscience, tau Proteins, Disease, Pathogenesis, Alzheimer Disease, In vivo, mental disorders, medicine, Translocator protein, Humans, Benzothiazoles, Monoamine Oxidase, Neuroinflammation, Aged, Aged, 80 and over, Inflammation, Amyloid beta-Peptides, Aniline Compounds, Microglia, biology, business.industry, Brain, Isoquinolines, Molecular Imaging, Biochemistry of Alzheimer's disease, Thiazoles, Psychiatry and Mental health, medicine.anatomical_structure, Positron-Emission Tomography, biology.protein, Radiopharmaceuticals, Geriatrics and Gerontology, Molecular imaging, business, Mitochondrial ADP, ATP Translocases, Neuroscience
Abstract

Background/Aims: Neuroinflammation plays a crucial role in the pathogenesis of Alzheimer's disease (AD). Its relationship with underlying β amyloid deposition remains unclear. In vivo visualization of microglial activation has become possible with the development of molecular imaging ligands when used with positron emission tomography (PET). The translocator protein (TSPO) is upregulated during neuroinflammation. Consequently, targeting TSPO with radiolabeled ligands for PET is an attractive biomarker for neuroinflammation. Methods: A review of the research literature on PET imaging which studied in vivo neuroinflammation in AD subjects and its relationship with amyloid load was performed, including papers published between 2001 and 2012. Results: Six studies were included using either [11C]PK-11195 or another non-TSPO radioligand that binds to the monoaminooxidase B. All the studies evaluated amyloid load with [11C]PIB. Microglial activation and astrocytosis are potentially early phenomena in AD. However, the individual levels of amyloid deposition and microglial activation were not correlated. Conclusion: Noninvasive in vivo molecular imaging to visualize neuroinflammation in AD may contribute to our understanding of the kinetics of neuroinflammation and its relationship to the hallmarks of the disease. Both are important for the development of future therapeutic modalities and for quantifying the efficacy of future disease-modifying treatments.

Published
2013

18. Brain [18F]FDDNP Binding and Glucose Metabolism in Advanced Elderly Healthy Subjects and Alzheimer's Disease Patients

Author

Emilie Beaufils, Johnny Vercouillie, Karl Mondon, Vincent Camus, Valérie Gissot, Emilie Vierron, Clovis Tauber, Denis Guilloteau, Caroline Hommet, Jean-Philippe Cottier, and Maria Joao Ribeiro

Subjects
Male, medicine.medical_specialty, Diprenorphine, Carbohydrate metabolism, Brain mapping, Alzheimer Disease, Fluorodeoxyglucose F18, Internal medicine, medicine, Humans, Cognitive decline, Aged, Aged, 80 and over, Brain Mapping, medicine.diagnostic_test, business.industry, General Neuroscience, Brain, Magnetic resonance imaging, Neurofibrillary tangle, General Medicine, medicine.disease, Magnetic Resonance Imaging, Psychiatry and Mental health, Clinical Psychology, Glucose, Endocrinology, Positron emission tomography, Positron-Emission Tomography, Posterior cingulate, Biomarker (medicine), Female, Geriatrics and Gerontology, Mental Status Schedule, business
Abstract

BACKGROUND Positron emission tomography (PET) imaging of brain amyloid (Aβ) and neurofibrillary tangle (NFT) load is a candidate biomarker of Alzheimer's disease (AD). OBJECTIVES To compare brain Aβ and NFT load and glucose metabolism in advanced elderly (70 years and older) patients with AD and healthy controls (HCs) by PET with [18F]FDDNP and [18F]FDG. METHODS Seven AD patients (mean ± SD age 79.3 ± 3.6 y, Mini-Mental State Examination (MMSE) score 22.1 ± 2.5) and eight HCs (mean age ± SD, 75.7 ± 3.9 y; MMSE score 29.0 ± 1.2) underwent PET with [18F]FDDNP and [18F]FDG. RESULTS Global [18F]FDDNP uptake was significantly higher (p < 0.05) in AD patients (1.15 ± 0.04) than in HCs (1.10 ± 0.06), while global brain metabolism was lower in AD patients than in HCs (AD patients 0.96 ± 0.09; HCs 1.13 ± 0.11; p < 0.05). In HCs, brain glucose metabolism was correlated with age for both the global [18F]FDG SUVr and in the parietal and posterior cingulate regions, while no correlation was found between age and [18F]FDDNP uptake. In AD patients, global [18F]FDDNP uptake and uptake in the frontal and anterior cingulate regions of interest were correlated with MMSE score, while no correlation was observed with brain glucose metabolism. CONCLUSION Imaging Aβ load and NFT with [18F]FDDNP can distinguish AD patients from HCs in an advanced elderly population. It seems to be less sensitive than [18F]FDG to the brain changes observed with normal aging, but more sensitive to cognitive decline in advanced elderly AD patients.

Published
2013

19. Confirmation of the Amyloidogenic Process in Posterior Cortical Atrophy: Value of the Aβ42/Aβ40 Ratio

Author

Karl Mondon, Florence Brault, Denis Guilloteau, Diane Dufour-Rainfray, Maria Joao Ribeiro, Emilie Beaufils, Caroline Hommet, and Jean-Philippe Cottier

Subjects
Male, Pathology, medicine.medical_specialty, Amyloid, tau Proteins, Disease, Statistics, Nonparametric, Perceptual Disorders, Cerebrospinal fluid, Alzheimer Disease, In vivo, medicine, Humans, Aged, Amyloid beta-Peptides, business.industry, General Neuroscience, Neuropsychology, Posterior cortical atrophy, General Medicine, Middle Aged, Peptide Fragments, Psychiatry and Mental health, Clinical Psychology, Biomarker (medicine), Female, Geriatrics and Gerontology, medicine.symptom, Cognition Disorders, Mental Status Schedule, business, Myoclonus, Neuroscience
Abstract

Posterior cortical atrophy (PCA) is characterized by progressive higher-order visuo-perceptual dysfunction and praxis declines. This syndrome is related to several underlying diseases, including Alzheimer's disease (AD), sometimes involving an amyloidogenic process. The aims of the study were to 1) define cerebrospinal fluid (CSF) biomarker profiles in PCA patients compared to AD patients and 2) explore the amyloidogenic process through the Aβ(42)/Aβ(40) ratio in PCA patients to elucidate the underlying disease in vivo. CSF biomarker analysis (t-tau, p-tau, Aβ(42), and Aβ(42)/Aβ(40) ratio) and neuropsychological examination were performed in 22 PCA patients and compared with those of age-matched AD patients. Associated clinical neurological signs were investigated (e.g., extrapyramidal motor signs, myoclonus). CSF biomarker profiles did not differ significantly between the PCA and AD groups; 82% of patients with PCA fulfilled the biological criteria for typical AD with abnormal levels of the three markers and 18% of PCA patients presented atypical CSF profiles. All PCA patients with associated clinical neurological signs presented typical AD CSF profiles. The clinical presentations of these patients were similar to other PCA subjects. The Aβ(42)/Aβ(40) ratio for all PCA patients, including those with atypical CSF profiles, was decreased. Most PCA syndromes were associated with CSF biomarkers suggestive of AD, even in cases with associated clinical neurological signs. The amyloidogenic process was confirmed by the decreased Aβ(42)/Aβ(40) ratio for all patients. This analysis avoids misdiagnosis in the presence of physiologically high or low amyloid peptide production rates and provides information in vivo to improve understanding of the underlying disease in PCA.

Published
2013

20. Utility of CSF biomarkers in psychiatric disorders: a national multicentre prospective study

Author

Carole Miguet-Alfonsi, Frank Bellivier, Elodie Bouaziz-Amar, Didier Hannequin, David Wallon, Susanna Schraen, Muriel Quillard, Jacques Hugon, Emilie Beaufils, Alain Jager, Florence Pasquier, Philippe Robert, Anne-Cécile Troussière, Frédéric Blanc, Eloi Magnin, Julien Dumurgier, Claire Paquet, François Mouton-Liger, BMC, BMC, Laboratoire d'Histologie et de Biologie du Vieillissement, Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Biomarqueurs CArdioNeuroVASCulaires (BioCANVAS), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Mémoire [AP-HP Hôpital Lariboisière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Centre Mémoire de Ressources et de Recherche [CHRU de Besançon] (CMRR), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Hôpital Saint-Jacques [CHRU de Besançon], 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), Centre Mémoire de Ressources et Recherche - CMRR [Haute-Normandie], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Centre Mémoire de Ressources et de Recherche -CMRR [Lille-Bailleul], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Hôpital Roger Salengro, Centre de Neurologie [Thionville], Centre hospitalier régional Metz-Thionville (CHR Metz-Thionville), Variabilité de réponse aux Psychotropes (VariaPsy - U1144), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Département de Gériatrie [Strasbourg], Les Hôpitaux Universitaires de Strasbourg (HUS)-Hôpital de jour St François [Strasbourg], Centre Mémoire Ressources Recherche (CMRR), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Service de Biochimie [Besançon], Laboratoire de biochimie générale [Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), UF de Neurobiologie [Lille], Pôle de Biologie Pathologie Génétique [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Cognition Behaviour Technology (CobTek), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre Hospitalier Universitaire de Nice (CHU Nice)-Institut Claude Pompidou [Nice] (ICP - Nice)-Université Côte d'Azur (UCA), Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Matériaux et nanosciences d'Alsace (FMNGE), Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital de jour St François [Strasbourg]-Les Hôpitaux Universitaires de Strasbourg (HUS), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Normandie Université (NU)-Centre hospitalier universitaire de Rouen, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Pôle : Biologie-Pathologie-Génétique - CHRU Lille, Université Nice Sophia Antipolis (... - 2019) (UNS), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre Hospitalier Universitaire de Nice (CHU Nice)-Institut Claude Pompidou [Nice] (ICP - Nice), Université Paris Diderot - Paris 7 ( UPD7 ) -Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Biomarqueurs CArdioNeuroVASCulaires ( BioCANVAS ), Université Paris 13 ( UP13 ) -Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 ( UPD7 ), Centre Mémoire de Ressources et de Recherche - CMRR [Besançon] ( CMRR ), Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ), 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 ), Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ) -Hôpital Roger Salengro, Centre hospitalier régional Metz-Thionville ( CHR Metz-Thionville ), Variabilité de réponse aux psychotropes ( VariaPsy - U1144 ), Université Paris Diderot - Paris 7 ( UPD7 ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie ( ICube ), Institut National des Sciences Appliquées - Strasbourg ( INSA Strasbourg ), Institut National des Sciences Appliquées ( INSA ) -Institut National des Sciences Appliquées ( INSA ) -Université de Strasbourg ( UNISTRA ) -Centre National de la Recherche Scientifique ( CNRS ) -École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg ( ENGEES ) -Réseau nanophotonique et optique, Université de Strasbourg ( UNISTRA ) -Université de Haute-Alsace (UHA) Mulhouse - Colmar ( Université de Haute-Alsace (UHA) ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Strasbourg ( UNISTRA ) -Université de Haute-Alsace (UHA) Mulhouse - Colmar ( Université de Haute-Alsace (UHA) ) -Centre National de la Recherche Scientifique ( CNRS ) -Matériaux et nanosciences d'Alsace, Université de Strasbourg ( UNISTRA ) -Université de Haute-Alsace (UHA) Mulhouse - Colmar ( Université de Haute-Alsace (UHA) ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Strasbourg ( UNISTRA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Mémoire Ressources Recherche ( CMRR ), Hôpital Bretonneau-CHRU Tours, Centre Hospitalier Régional Universitaire Hôpital Jean Minjoz [Besançon], CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -Centre hospitalier universitaire de Rouen, Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ) -Pôle : Biologie-Pathologie-Génétique - CHRU Lille, Cognition Behaviour Technology ( CobTek ), Université Nice Sophia Antipolis ( UNS ), and Université Côte d'Azur ( UCA ) -Université Côte d'Azur ( UCA ) -CHU Nice-Institut Claude Pompidou [Nice] ( ICP - Nice )

Subjects
0301 basic medicine, Male, medicine.medical_specialty, Neurology, Sciences du Vivant [q-bio]/Neurosciences [q-bio.NC], Cognitive Neuroscience, [SDV]Life Sciences [q-bio], Clinical Neurology, Disease, Clinical practice, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Psychiatric history, Surveys and Questionnaires, Medicine, Dementia, Humans, Prospective Studies, Cognitive decline, Psychiatry, Prospective cohort study, Aged, Retrospective Studies, [ SDV ] Life Sciences [q-bio], business.industry, Mental Disorders, Research, Cognitive disorder, Neurodegenerative Diseases, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], 030104 developmental biology, Cerebrospinal fluid, Psychiatric disease, Dual diagnosis, Female, Neurology (clinical), business, Alzheimer’s disease, 030217 neurology & neurosurgery, Biomarkers
Abstract

Background Affective and psychotic disorders are mental or behavioural patterns resulting in an inability to cope with life’s ordinary demands and routines. These conditions can be a prodromal event of Alzheimer’s disease (AD). The prevalence of underlying AD lesions in psychiatric diseases is unknown, and it would be helpful to determine them in patients. AD cerebrospinal fluid (CSF) biomarkers (amyloid β, tau and phosphorylated tau) have high diagnostic accuracy, both for AD with dementia and to predict incipient AD (mild cognitive impairment due to AD), and they are sometimes used to discriminate psychiatric diseases from AD. Our objective in the present study was to evaluate the clinical utility of CSF biomarkers in a group of patients with psychiatric disease as the main diagnosis. Methods In a multicentre prospective study, clinicians filled out an anonymous questionnaire about all of their patients who had undergone CSF biomarker evaluation. Before and after CSF biomarker results were obtained, clinicians provided a diagnosis with their level of confidence and information about the treatment. We included patients with a psychiatric disorder as the initial diagnosis. In a second part of the study conducted retrospectively in a followed subgroup, clinicians detailed the psychiatric history and we classified patients into three categories: (1) psychiatric symptoms associated with AD, (2) dual diagnosis and (3) cognitive decline not linked to a neurodegenerative disorder. Results Of 957 patients, 69 had an initial diagnosis of a psychiatric disorder. Among these 69 patients, 14 (20.2 %) had a CSF AD profile, 5 (7.2 %) presented with an intermediate CSF profile and 50 (72.4 %) had a non-AD CSF profile. Ultimately, 13 (18.8 %) patients were diagnosed with AD. We show that in the AD group psychiatric symptoms occurred later and the delay between the first psychiatric symptoms and the cognitive decline was shorter. Conclusions This study revealed that about 20 % of patients with a primary psychiatric disorder diagnosis before undergoing a CSF exploration for cognitive disorder displayed a CSF biomarker AD profile. In memory clinics, it seems important to consider AD as a possible diagnosis before finalizing a diagnosis of a psychiatric disorder.

Published
2016

22. Contents Vol. 32, 2011

Author

Tomoyuki Nagata, Ritsuko Nakayama, Kazuhiko Nakayama, Morten Aaberg, Vibeke Juliebø, Sebastian Palmqvist, Brynjar Fure, Bente Thommessen, Gerd Inger Ringdal, Torgeir Bruun Wyller, Karl Mondon, Jon Håvard Loge, Caroline Hommet, Vincent Camus, Lena Bronge, Agmall Sarwari, Katarina Nägga, Anne Rita Øksengård, Druck Reinhardt Druck Basel, T.B. Wyller, Kristen Ringdal, Yi Zhang, Hege Ihle-Hansen, Oskar Hansson, Shunichiro Shinagawa, Lennart Minthon, Gunnar Edman, Kazutaka Nukariya, Jean-Philippe Cottier, Thierry Constans, Kajsa Stubendorff, Satz Mengensatzproduktion, Birgitta Ausén, Emilie Beaufils, Kirsti Løken, Nenad Bogdanovic, Lars-Olof Wahlund, Thomas Desmidt, Elisabet Londos, Carina Wattmo, Vidar Stenset, Knut Engedal, Hisashi Yamada, Ove Almkvist, and M. J. Hjermstad

Subjects
Psychiatry and Mental health, Cognitive Neuroscience, Geriatrics and Gerontology
Published
2011

23. Precuneus and Cingulate Cortex Atrophy and Hypometabolism in Patients with Alzheimer's Disease and Mild Cognitive Impairment: MRI and (18)F-FDG PET Quantitative Analysis Using FreeSurfer

Author

Vincent Camus, Denis Guilloteau, Thierry Voisin, Christophe Destrieux, Johnny Vercouillie, Karl Mondon, Matthieu Bailly, Pierre Payoux, Caroline Hommet, Emilie Vierron, Jean-Philippe Cottier, Emilie Beaufils, Louisa Barré, M.J. Ribeiro, Meziane Ibazizene, Service de Médecine Nucléaire, CHRU de Tours, boulevard Tonnellé, 37000 Tours, France, Service de Médecine Nucléaire, CHR Orléans, avenue de l'Hôpital, 45000 Orléans, France., Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales (ISTCT), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Toulouse Neuro Imaging Center (ToNIC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], INSERM U930, Université François Rabelais, boulevard Tonnellé, 37000 Tours, France, INSERM CIC 1415, boulevard Tonnellé, 37000 Tours, France., Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), and Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)

Subjects
Male, Cingulate cortex, medicine.medical_specialty, Article Subject, [SDV]Life Sciences [q-bio], Precuneus, Glucose-6-Phosphate, Hippocampus, lcsh:Medicine, Gyrus Cinguli, Amygdala, behavioral disciplines and activities, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Alzheimer Disease, Cerebellar Diseases, Parietal Lobe, Cortex (anatomy), Internal medicine, mental disorders, medicine, Humans, Cognitive Dysfunction, Aged, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, General Immunology and Microbiology, business.industry, lcsh:R, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Radiography, medicine.anatomical_structure, Positron-Emission Tomography, Posterior cingulate, Cardiology, Biomarker (medicine), Female, business, 030217 neurology & neurosurgery, Research Article
Abstract

Objective.The objective of this study was to compare glucose metabolism and atrophy, in the precuneus and cingulate cortex, in patients with Alzheimer’s disease (AD) and mild cognitive impairment (MCI), using FreeSurfer.Methods.47 individuals (17 patients with AD, 17 patients with amnestic MCI, and 13 healthy controls (HC)) were included. MRI and PET images using18F-FDG (mean injected dose of 185 MBq) were acquired and analyzed using FreeSurfer to define regions of interest in the hippocampus, amygdala, precuneus, and anterior and posterior cingulate cortex. Regional volumes were generated. PET images were registered to the T1-weighted MRI images and regional uptake normalized by cerebellum uptake (SUVr) was measured.Results.Mean posterior cingulate volume was reduced in MCI and AD. SUVr were different between the three groups: mean precuneus SUVr was 1.02 for AD, 1.09 for MCI, and 1.26 for controls (p<0.05); mean posterior cingulate SUVr was 0.96, 1.06, and 1.22 for AD, MCI, and controls, respectively (p<0.05).Conclusion.We found graduated hypometabolism in the posterior cingulate cortex and the precuneus in prodromal AD (MCI) and AD, whereas atrophy was not significant. This suggests that the use of18F-FDG in these two regions could be a neurodegenerative biomarker.

Published
2015

24. Total Protein Level in Cerebrospinal Fluid is Stable in Elderly Adults

Author

Denis Guilloteau, Christian R. Andres, Emilie Beaufils, Patrick Vourc'h, Karl Mondon, Laurent Mereghetti, Diane Dufour-Rainfray, Chantal Gendrot, Emilie Vierron, Caroline Hommet, ProdInra, Migration, Laboratoire de Médecine Nucléaire, Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Université Francois Rabelais [Tours], Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU de Tours), Infectiologie et Santé Publique (UMR ISP), Institut National de la Recherche Agronomique (INRA)-Université de Tours (UT), Service de Bactériologie–Virologie, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Recherche Agronomique (INRA)-Université de Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), and Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)

Subjects
Aging, Pediatrics, medicine.medical_specialty, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, MEDLINE, Cerebrospinal Fluid Proteins, Middle Aged, 030204 cardiovascular system & hematology, Spinal Puncture, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, medicine, Humans, Elderly adults, Geriatrics and Gerontology, business, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, Aged, Cerebrospinal Fluid, Total protein
Abstract

International audience

Published
2013

25. Encephalopathy induced by levetiracetam in an elderly woman

Author

Karl Mondon, Thierry Constans, Héliette Ripault, Vincent Roubeau, Bertrand de Toffol, Caroline Hommet, and Emilie Beaufils

Subjects
Aged, 80 and over, Aging, Pediatrics, medicine.medical_specialty, Levetiracetam, business.industry, Geriatrics gerontology, Encephalopathy, social sciences, medicine.disease, Piracetam, humanities, Epilepsy, Seizures, Concomitant, Humans, Medicine, Anticonvulsants, Female, Neurotoxicity Syndromes, Geriatrics and Gerontology, business, medicine.drug
Abstract

Levetiracetam is frequently used in the elderly considering its favorable pharmacological profile, efficacy, and good tolerance. We reported an encephalopathy with levetiracetam in an elderly subject who had no renal failure, no concomitant valproate medication, and no other additional co-morbidities. Levetiracetam should be discontinued when this condition is suspected.

Published
2013

26. Quality of the Rating of Mini-Mental State Examination in a Well-Defined Population of French General Practitioners

Author

Caroline Hommet, Karl Mondon, Saousen Ben Zid, Emilie Beaufils, Charlotte Eudo, and Thierry Constans

Subjects
Gerontology, education.field_of_study, Mini–Mental State Examination, medicine.diagnostic_test, business.industry, media_common.quotation_subject, Population, Neuropsychological Tests, General Practitioners, Surveys and Questionnaires, medicine, Humans, Quality (business), Clinical Competence, France, Geriatrics and Gerontology, Cognition Disorders, Mental Status Schedule, education, business, media_common
Published
2011

27. Impact of cerebro-spinal fluid biomarkers of Alzheimer's disease in clinical practice: a multicentric study

Author

Bernard Croisile, Julien Dumurgier, Jacques Hugon, Emilie Beaufils, Florence Pasquier, Anne-Cécile Troussière, Vincent de La Sayette, Nathalie Philippi, Eloi Magnin, François Mouton-Liger, David Wallon, Audrey Gabelle, Claire Paquet, Rachida Yatimi, Emannuelle Duron, Didier Hannequin, and Philippe Robert

Subjects
Male, medicine.medical_specialty, Neurology, Disease, External validity, Cerebrospinal fluid, Alzheimer Disease, Internal medicine, Surveys and Questionnaires, medicine, Humans, Medical diagnosis, Psychiatry, Neuroradiology, Aged, Aged, 80 and over, business.industry, Middle Aged, Clinical Practice, Clinical research, Female, Neurology (clinical), business, Cognition Disorders, Biomarkers
Abstract

CSF biomarkers of Alzheimer’s disease are well validated in clinical research; however, their pragmatic utility in daily practice is still unappreciated. These biomarkers are used in routine practice according to Health Authority Recommendations. In 604 consecutive patients explored for cognitive disorders, questionnaires were prospectively proposed and filled. Before and after CSF biomarker results, clinicians provided a diagnosis and an estimate of their diagnostic confidence. Analysis has compared the frequency of diagnosis before and after CSF biomarker results using the net reclassification improvement (NRI) method. We have evaluated external validity comparing with data of French Bank National of AD (BNA). A total of 561 patients [Alzheimer’s disease (AD), n = 253; non-AD, n = 308] were included (mean age, 68.6 years; women, 52 %). Clinically suspected diagnosis and CSF results were concordant in 65.2 % of cases. When clinical hypothesis and biological results were discordant, a reclassification occurred in favour of CSF biomarkers results in 76.9 %. The NRI was 39.5 %. In addition, the results show a statistically significant improvement in clinician confidence for their diagnosis. In comparison with BNA data, patients were younger and more frequently diagnosed with AD. Clinicians tend to heavily rely on the CSF AD biomarkers results and are more confident in their diagnoses using CSF AD biomarkers. Thus, these biomarkers appear as a key tool in clinical practice.

Published
2013

28. P3–120: PET with 18F‐AV‐45 (florbetapir) in posterior cortical atrophy

Author

Francis Eustache, Pierre Payoux, Johnny Vercouillie, Denis Guilloteau, Vincent Camus, Maria Joao-Ribeiro, Emilie Beaufils, Caroline Hommet, and Karl Mondon

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, business.industry, Health Policy, Posterior cortical atrophy, Medicine, Neurology (clinical), Anatomy, Geriatrics and Gerontology, business
Published
2013

29. [Language disorders and neurodegenerative pathologies]

Author

Caroline, Hommet, Danièle, Perrier, Emilie, Beaufils, Thierry, Constans, and Karl, Mondon

Subjects
Alzheimer Disease, Aphasia, Humans, Neuropsychological Tests
Abstract

Language disorders in elderly people are not exclusively linked to the vascular pathology. There are many degenerative causes and the different clinical presentations and progression profiles must be known to clinicians. The detection of a language disorder during a "memory consultation" warrants an assessment by a speech therapist, in order to adapt the neuropsychological assessment and to decide on any complementary investigations.

Published
2012

30. Review of cerebral microangiopathy and Alzheimer's disease: relation between white matter hyperintensities and microbleeds

Author

Karl Mondon, Caroline Hommet, Emilie Beaufils, Thierry Constans, Thomas Desmidt, Jean-Philippe Cottier, and Vincent Camus

Subjects
Pathology, medicine.medical_specialty, Cognitive Neuroscience, Disease, Vascular risk, Alzheimer Disease, Leukoencephalopathies, Cerebral microangiopathy, Medicine, Humans, Aged, Cerebral Hemorrhage, Aged, 80 and over, medicine.diagnostic_test, business.industry, Vascular disease, Brain, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, Radiography, Psychiatry and Mental health, Cerebral Small Vessel Diseases, Microvessels, Geriatrics and Gerontology, business, Magnetic Resonance Angiography
Abstract

Although Alzheimer’s disease (AD) is basically considered to be a neurodegenerative disorder, cerebrovascular disease is also involved. The role of vascular risk factors and vascular disease in the progression of AD remains incompletely understood. With the development of brain MRI, it is now possible to detect small-vessel disease, whose prevalence and severity increase with age. The first types of small-vessel disease to be described were white matter hyperintensities (WMHs). More recently, small areas of signal loss on T2*-weighted images, also called microbleeds (MBs), have been reported. Cerebral MBs are focal deposits of hemosiderin that indicate prior microhemorrhages around small vessels, related to either ruptured atherosclerotic microvessels or amyloid angiopathy. Consequently, using brain MRI for the detection of microangiopathy may prove useful to improve our understanding of the impact of the vascular burden in AD pathology. The relationship between microangiopathy and the clinical course of AD or the conversion of mild cognitive impairment to AD remains questionable in terms of cognitive or affective symptoms, particularly if we consider MBs.

Published
2011

31. Occurrence of eye movement disorders in motor neuron disease

Author

Julien Praline, Philippe Corcia, Bertrand de Toffol, and Emilie Beaufils

Subjects
Ophthalmoplegia, business.industry, Amyotrophic Lateral Sclerosis, Eye movement, Supranuclear ophthalmoplegia, General Medicine, Motor neuron, medicine.disease, Lower motor neuron, eye diseases, Progressive supranuclear palsy, medicine.anatomical_structure, Fatal Outcome, Ocular Motility Disorders, Neurology, Frontal lobe, medicine, Humans, Female, Neurology (clinical), Eyelid, Amyotrophic lateral sclerosis, business, Neuroscience, Aged
Abstract

The diagnosis of amyotrophic lateral sclerosis (ALS) relies on symptoms and signs related to upper and lower motor neuron injury. Preservation of normal ocular motor movements is an important criterion for making this diagnosis as oculomotility pathways are classically spared in ALS. However, some authors report eye disturbances resulting from nuclear and supranuclear ophthalmoplegia in autopsy-proven ALS. Here, we report a case in which eye movement disorders were an early sign associated with a bulbar-onset ALS. The association of progressive ophthalmoplegia, dysexecutive syndrome and automatico-voluntary dissociation of eyelid occlusion suggested a 'progressive supranuclear palsy variant' of ALS caused by a disturbance in the descending frontal projections, even though morphological imaging was normal. Motor neuron disease with eye movement disorders must not be considered as a distinct clinical entity and must not exclude a diagnosis of ALS.

Published
2011

32. Clinical Reasoning: a 59-year-old man who became lost in his own home

Author

Emilie Beaufils, D. Perrier, A. Matysiak, Karl Mondon, and Caroline Hommet

Subjects
Male, medicine.medical_specialty, Prefrontal Cortex, Diagnosis, Differential, Alzheimer Disease, medicine, Dementia, Humans, Apathy, Family history, Age of Onset, Psychiatry, Visual agnosia, Libido, Past medical history, Mental Disorders, Neuropsychology, Cognition, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Temporal Lobe, Agnosia, Disease Progression, Neurology (clinical), Amnesia, medicine.symptom, Frontotemporal Lobar Degeneration, Psychology, Cognition Disorders
Abstract

A 59-year-old right-handed man was referred to the Memory Center of an academic hospital for progressive cognitive decline. His past medical history included hypertension, diabetes mellitus, and prostate cancer. There was no family history of any psychiatric or neurologic disorders. The patient's symptoms began 3 years prior to presentation with memory loss and word-finding difficulties. Six months later, his wife observed a progressive loss of interest in his previous hobbies and increasing apathy. Twelve months after symptom onset, the patient began having trouble finding his way home when driving. At the same time, his wife observed a personality change, describing her husband as “childlike,” and said he began to follow her wherever she went. A year later, the patient developed difficulties with reading and spelling and became unable to plan ahead. His memory for events deteriorated and he had difficulty recognizing familiar faces. He became preoccupied over an old conflict with his son. He was unable to perform everyday activities autonomously. His difficulties in spatial orientation progressed until he ultimately got lost in the home he had lived in for 10 years. Prior to presentation, he began making sexually inappropriate comments that contrasted with his concurrent loss of libido. The neuropsychological evaluation upon admission revealed a severe amnestic syndrome, difficulties in naming and verbal comprehension, visuospatial impairment, a cognitive and behavioral prefrontal syndrome, and multimodal visual agnosia including prosopagnosia. The rest of the neurologic examination was normal. ### Questions for consideration: 1. What is early-onset dementia? 2. What are the etiologies of early-onset dementia? 3. What is the diagnostic strategy? The International …

Published
2010

33. Perfusion corticale versus charge amyloïde dans l’atrophie corticale postérieure et l’aphasie primaire progressive

Author

D. Dufour, Karl Mondon, Vincent Camus, Jean-Philippe Cottier, Emilie Vierron, Denis Guilloteau, Emilie Beaufils, M.-J. Santiago-Ribeiro, Caroline Hommet, and Johnny Vercouillie

Subjects
Radiological and Ultrasound Technology, Biophysics, Radiology, Nuclear Medicine and imaging
Abstract

Introduction L’atrophie corticale posterieure (ACP) et l’aphasie primaire progressive (APP) sont caracterisees par atrophie et/ou hypoperfusion predominant dans le cortex parieto-occipital et temporal, respectivement pour la ACP et l’APP. Dans cette etude, nous evaluons la correlation entre la perfusion corticale et la densite de la charge amyloide dans ces deux syndromes. Methodes Huit sujets avec ACP (3 ♂ et 5 ♀ ; âge moyen ± ET : 64 ± 8 ans) et 8 APP (5 ♂ et 3 ♀ ; 74 ± 8 ans) ont beneficie d’une etude de la perfusion cerebrale par TEMP a l’aide de 99mTc-ECD ou de 99mTc-HMPAO (DI ± ET : 835 ± 90 MBq). Tous les patients ont ete soumis a une etude TEP au 18F-Florbetapir (DI ± ET : 208 ± 15 MBq) avec une acquisition de 10 min, 50 min pi. Des regions d’interet (RI) ont ete definies, pour les images de 18F-Florbetapir avec le logiciel Syngo.via® (Siemens), sur les cortex frontal, cingulaire posterieur, precuneal, parietal, temporal et occipital ainsi que sur le cervelet (la region de reference pour calculer les SUVr). Le logiciel Scenium® (Siemens) a ete utilise pour comparer les perfusions des regions (droite et gauche) corticales parietale, temporale et occipitale par rapport a une database de sujets temoins. Resultats Chez les malades ACP, nous avons observe une severe hypoperfusion cortico-parieto-occipitale. Chez le groupe APP, l’hypoperfusion a ete decelee pour le cortex temporal gauche pour 5 malades et bilateralement pour les trois autres. Les SUVr (moyenne ± ET) pour le groupe ACP sont 1,23 ± 0,21, 1,27 ± 0,21, 1,18 ± 0,18, 1,14 ± 0,19, 1,20 ± 0,15 et 1,20 ± 0,15, pour le cortex frontal, cingulaire posterieur, precuneal, parietal, temporal et occipital. Pour les sujets APP et pour les memes RI, les SUVr sont plus bas, mais non significativement differents : 1,07 ± 0,24, 1,20 ± 0,20, 1,06 ± 0,28, 1,05 ± 0,23, 1,05 ± 0,24 et 1,11 ± 0,21. Pour les deux groupes de sujets, pas de differences significatives pour les SUVr entre les deux hemispheres cerebraux ont ete observees. Conclusion Pas de difference significative dans la captation du 18F-Florbetapir entre les malades ACP et APP n’a ete observee. Cependant, le pattern de perfusion corticale pour les deux syndromes etait distinct.

Published
2015

34. Distribution cérébrale de la charge amyloïde par TEP au 18F-Florbétapir dans l’atrophie corticale postérieure

Author

Vincent Camus, Emilie Beaufils, Karl Mondon, D. Dufour, Caroline Hommet, Denis Guilloteau, M.-J. Santiago-Ribeiro, and Johnny Vercouillie

Subjects
Radiological and Ultrasound Technology, Biophysics, Radiology, Nuclear Medicine and imaging
Abstract

Introduction L’atrophie corticale posterieure (ACP) ou syndrome de Benson est un syndrome clinique caracterise par un declin selectif et progressif des fonctions visuelles complexes. L’ACP peut resulter de processus neuropathologiques differents dont le plus frequent est la maladie d’Alzheimer (MA). La place des biomarqueurs en imagerie TEP avec marquage des plaques amyloides reste encore a definir dans cette forme clinique atypique. L’objectif de notre etude a ete de comparer la charge amyloide en TEP au 18F-Florbetapir chez des patients presentant une ACP versus une MA typique de forme amnesique. Methodes Onze sujets presentant une ACP ont ainsi beneficie d’une evaluation multimodale comprenant une TEP au 18F-Florbetapir, une analyse des biomarqueurs du LCR et un bilan neuropsychologique. La charge amyloide de ces patients a ete comparee a celle observee chez 12 sujets presentant une MA typique. Resultats Cette etude montre une charge amyloide et une distribution des plaques amyloides identiques entre les deux groupes. Aucune correlation n’a ete observee entre la charge amyloide globale, les biomarqueurs du LCR et les marqueurs cognitifs chez les patients presentant une ACP. Conclusion Cette premiere etude en TEP au 18F-Florbetapir chez des patients atteints d’ACP ne montre pas de profil de fixation specifique dans cette pathologie. Nos resultats suggerent que les depots anormaux de plaques amyloides ne suffisent pas a eux seuls a expliquer l’heterogeneite des presentations cliniques de la MA. D’autres pistes de recherche doivent donc etre explorees pour comprendre la physiopathogenie de ces formes atypiques de MA.

Published
2015

35. First Manic Episode Revealing Cerebellar Stroke

Author

Emilie Beaufils, Thomas Desmidt, Jean-Philippe Cottier, Karl Mondon, Caroline Hommet, Thierry Constans, and Charlotte Eudo

Subjects
medicine.medical_specialty, Physical medicine and rehabilitation, Text mining, business.industry, medicine, Cerebellar stroke, Geriatrics and Gerontology, business
Published
2012

37. A case report of exhibitionist behaviour revealing unsuspected Huntington’s disease: A pitfall in forensic medicine

Author

Caroline Hommet, Emilie Beaufils, Thierry Constans, Aurélie Marqué, Karl Mondon, and Bertrand de Toffol

Subjects
Male, Neurologic Examination, Huntingtin Protein, medicine.medical_specialty, business.industry, Nuclear Proteins, Nerve Tissue Proteins, Chorea, General Medicine, Disease, medicine.disease, Pathology and Forensic Medicine, Exhibitionism, Huntington Disease, Trinucleotide Repeats, Huntington's disease, medicine, Humans, medicine.symptom, business, Psychiatry, Law, Aged
Abstract

We present the case of a patient who was recently convicted for exhibitionism whose clinical assessment suggested undiagnosed Huntington’s disease. We summarise the clinical characteristics, the genetics involved and the diagnostic difficulties which can be encountered. Finally, we discuss the implications of this diagnosis in forensic medicine.

Published
2008

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