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2. Robust thalamic nuclei segmentation from T1-weighted MRI

Author

Vidal, Julie P., Danet, Lola, Péran, Patrice, Pariente, Jérémie, Cuadra, Meritxell Bach, Zahr, Natalie M., Barbeau, Emmanuel J., and Saranathan, Manojkumar

Subjects
Electrical Engineering and Systems Science - Image and Video Processing
Abstract

Accurate segmentation of thalamic nuclei, crucial for understanding their role in healthy cognition and in pathologies, is challenging to achieve on standard T1-weighted (T1w) magnetic resonance imaging (MRI) due to poor image contrast. White-matter-nulled (WMn) MRI sequences improve intrathalamic contrast but are not part of clinical protocols or extant databases. Here, we introduce Histogram-based polynomial synthesis (HIPS), a fast preprocessing step that synthesizes WMn-like image contrast from standard T1w MRI using a polynomial approximation. HIPS was incorporated into our Thalamus Optimized Multi-Atlas Segmentation (THOMAS) pipeline, developed and optimized for WMn MRI. HIPS-THOMAS was compared to a convolutional neural network (CNN)-based segmentation method and THOMAS modified for T1w images (T1w-THOMAS). The robustness and accuracy of the three methods were tested across different image contrasts, scanner manufacturers, and field strength. HIPS-synthesized images improved intra-thalamic contrast and thalamic boundaries, and their segmentations yielded significantly better mean Dice, lower percentage of volume error, and lower standard deviations compared to both the CNN method and T1w-THOMAS. Finally, using THOMAS, HIPS-synthesized images were as effective as WMn images for identifying thalamic nuclei atrophy in alcohol use disorders subjects relative to healthy controls, with a higher area under the ROC curve compared to T1w-THOMAS (0.79 vs 0.73)., Comment: 5 Figures, 3 Tables, 1 Supplemental Figure, Submitted to Scientific Reports Apr 12 2023

Published
2023

3. Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening

Author

Nicolas, Gaël, Zaréa, Aline, Lacour, Morgane, Quenez, Olivier, Rousseau, Stéphane, Richard, Anne-Claire, Bonnevalle, Antoine, Schramm, Catherine, Olaso, Robert, Sandron, Florian, Boland, Anne, Deleuze, Jean-François, Andriuta, Daniela, Anthony, Pierre, Auriacombe, Sophie, Balageas, Anna-Chloé, Ballan, Guillaume, Barbay, Mélanie, Béjot, Yannick, Belliard, Serge, Benaiteau, Marie, Bennys, Karim, Bombois, Stéphanie, Boutoleau-Bretonnière, Claire, Branger, Pierre, Carlier, Jasmine, Cartz-Piver, Leslie, Cassagnaud, Pascaline, Ceccaldi, Mathieu-Pierre, Chauviré, Valérie, Chen, Yaohua, Cogez, Julien, Cognat, Emmanuel, Contegal-Callier, Fabienne, Corneille, Léa, Couratier, Philippe, Cretin, Benjamin, Crinquette, Charlotte, Dauriat, Benjamin, Dautricourt, Sophie, de la Sayette, Vincent, de Liège, Astrid, Deffond, Didier, Demurger, Florence, Deramecourt, Vincent, Derollez, Céline, Dionet, Elsa, Doco Fenzy, Martine, Dumurgier, Julien, Dutray, Anaïs, Etcharry-Bouyx, Frédérique, Formaglio, Maïté, Gabelle, Audrey, Gainche-Salmon, Anne, Godefroy, Olivier, Graber, Mathilde, Gregoire, Chloé, Grimaldi, Stephan, Gueniat, Julien, Gueriot, Claude, Guillet-Pichon, Virginie, Haffen, Sophie, Hanta, Cezara-Roxana, Hardy, Clémence, Hautecloque, Geoffroy, Heitz, Camille, Hourregue, Claire, Jonveaux, Thérèse, Jurici, Snejana, Koric, Lejla, Krolak-Salmon, Pierre, Lagarde, Julien, Lanoiselée, Hélène-Marie, Laurens, Brice, Le Ber, Isabelle, Le Guyader, Gwenaël, Leblanc, Amélie, Lebouvier, Thibaud, Levy, Richard, Lippi, Anaïs, Mackowiak, Marie-Anne, Magnin, Eloi, Marelli, Cecilia, Martinaud, Olivier, Maureille, Aurelien, Migliaccio, Raffaella, Milongo-Rigal, Emilie, Mohr, Sophie, Mollion, Hélène, Morin, Alexandre, Nivelle, Julia, Noiray, Camille, Olivieri, Pauline, Paquet, Claire, Pariente, Jérémie, Pasquier, Florence, Perron, Alexandre, Philippi, Nathalie, Planche, Vincent, Pouclet-Courtemanche, Hélène, Rafiq, Marie, Rollin-Sillaire, Adeline, Roué-Jagot, Carole, Saracino, Dario, Sarazin, Marie, Sauvée, Mathilde, Sellal, François, Teichmann, Marc, Thauvin, Christel, Thomas, Quentin, Tisserand, Camille, Turpinat, Cédric, Van Damme, Laurène, Vercruysse, Olivier, Villain, Nicolas, Wagemann, Nathalie, Charbonnier, Camille, and Wallon, David

Published
2024
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4. Longitudinal head-to-head comparison of 11C-PiB and 18F-florbetapir PET in a Phase 2/3 clinical trial of anti-amyloid-β monoclonal antibodies in dominantly inherited Alzheimer’s disease

Author

Chen, Charles D., McCullough, Austin, Gordon, Brian, Joseph-Mathurin, Nelly, Flores, Shaney, McKay, Nicole S., Hobbs, Diana A., Hornbeck, Russ, Fagan, Anne M., Cruchaga, Carlos, Goate, Alison M., Perrin, Richard J., Wang, Guoqiao, Li, Yan, Shi, Xinyu, Xiong, Chengjie, Pontecorvo, Michael J., Klein, Gregory, Su, Yi, Klunk, William E., Jack, Clifford, Koeppe, Robert, Snider, B. Joy, Berman, Sarah B., Roberson, Erik D., Brosch, Jared, Surti, Ghulam, Jiménez-Velázquez, Ivonne Z., Galasko, Douglas, Honig, Lawrence S., Brooks, William S., Clarnette, Roger, Wallon, David, Dubois, Bruno, Pariente, Jérémie, Pasquier, Florence, Sanchez-Valle, Raquel, Shcherbinin, Sergey, Higgins, Ixavier, Tunali, Ilke, Masters, Colin L., van Dyck, Christopher H., Masellis, Mario, Hsiung, Robin, Gauthier, Serge, Salloway, Steve, Clifford, David B., Mills, Susan, Supnet-Bell, Charlene, McDade, Eric, Bateman, Randall J., and Benzinger, Tammie L. S.

Published
2023
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6. The long-term impact of irradiation on functional connectivity in brain circuits involved in memory processes after pediatric posterior fossa tumor

Author

BAUDOU, Eloïse, PERAN, Patrice, TENSAOUTI, Fatima, ARRIBARAT, Germain, PARIENTE, Jérémie, COURBIERES, Nicolas, POLLIDORO, Lisa, BERTOZZI, Anne-Isabelle, GAMBART, Marion, SEVELY, Annick, ROQUES, Margaux, DUCASSOU, Anne, DANNA, Jérémy, TALLET, Jessica, DUFOUR, Christelle, CHAIX, Yves, and LAPRIE, Anne

Published
2024
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7. Translocator protein (TSPO) genotype does not change cerebrospinal fluid levels of glial activation, axonal and synaptic damage markers in early Alzheimer’s disease

Author

Gouilly, Dominique, Vrillon, Agathe, Bertrand, Elsa, Goubeaud, Marie, Catala, Hélène, Germain, Johanne, Ainaoui, Nadéra, Rafiq, Marie, Nogueira, Leonor, Mouton-Liger, François, Planton, Mélanie, Salabert, Anne-Sophie, Hitzel, Anne, Méligne, Déborah, Jasse, Laurence, Sarton, Benjamine, Silva, Stein, Lemesle, Béatrice, Péran, Patrice, Payoux, Pierre, Thalamas, Claire, Paquet, Claire, and Pariente, Jérémie

Published
2024
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10. Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression

Author

Khrouf, Walid, Saracino, Dario, Rucheton, Benoit, Houot, Marion, Clot, Fabienne, Rinaldi, Daisy, Vitor, Joana, Huynh, Marie, Heng, Evelyne, Schlemmer, Dimitri, Pasquier, Florence, Deramecourt, Vincent, Auriacombe, Sophie, Azuar, Carole, Levy, Richard, Bombois, Stéphanie, Boutoleau-Brétonnière, Claire, Pariente, Jérémie, Didic, Mira, Wallon, David, Fluchère, Frédérique, Auvin, Stéphane, Younes, Imen Ben, Nadjar, Yann, Brice, Alexis, Dubois, Bruno, Bonnefont-Rousselot, Dominique, Le Ber, Isabelle, and Lamari, Foudil

Published
2023
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15. Explaining the association between social and lifestyle factors and cognitive functions: a pathway analysis in the Memento cohort

Author

Grasset, Leslie, Proust-Lima, Cécile, Mangin, Jean-François, Habert, Marie-Odile, Dubois, Bruno, Paquet, Claire, Hanon, Olivier, Gabelle, Audrey, Ceccaldi, Mathieu, Annweiler, Cédric, David, Renaud, Jonveaux, Therese, Belin, Catherine, Julian, Adrien, Rouch-Leroyer, Isabelle, Pariente, Jérémie, Locatelli, Maxime, Chupin, Marie, Chêne, Geneviève, and Dufouil, Carole

Published
2022
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16. The long-term impact of irradiation on functional connectivity in brain circuits involved in memory processes after pediatric posterior fossa tumor

Author

BAUDOU, Eloïse, primary, PERAN, Patrice, additional, TENSAOUTI, Fatima, additional, ARRIBARAT, Germain, additional, PARIENTE, Jérémie, additional, COURBIERES, Nicolas, additional, POLLIDORO, Lisa, additional, BERTOZZI, Anne-Isabelle, additional, GAMBART, Marion, additional, SEVELY, Annick, additional, ROQUES, Margaux, additional, DUCASSOU, Anne, additional, DANNA, Jérémy, additional, TALLET, Jessica, additional, DUFOUR, Christelle, additional, CHAIX, Yves, additional, and LAPRIE, Anne, additional

Published
2023
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17. A trial of gantenerumab or solanezumab in dominantly inherited Alzheimer’s disease

Author

Salloway, Stephen, Farlow, Martin, McDade, Eric, Clifford, David B., Wang, Guoqiao, Llibre-Guerra, Jorge J., Hitchcock, Janice M., Mills, Susan L., Santacruz, Anna M., Aschenbrenner, Andrew J., Hassenstab, Jason, Benzinger, Tammie L. S., Gordon, Brian A., Fagan, Anne M., Coalier, Kelley A., Cruchaga, Carlos, Goate, Alison A., Perrin, Richard J., Xiong, Chengjie, Li, Yan, Morris, John C., Snider, B. Joy, Mummery, Catherine, Surti, G. Mustafa, Hannequin, Didier, Wallon, David, Berman, Sarah B., Lah, James J., Jimenez-Velazquez, Ivonne Z., Roberson, Erik D., van Dyck, Christopher H., Honig, Lawrence S., Sánchez-Valle, Raquel, Brooks, William S., Gauthier, Serge, Galasko, Douglas R., Masters, Colin L., Brosch, Jared R., Hsiung, Ging-Yuek Robin, Jayadev, Suman, Formaglio, Maité, Masellis, Mario, Clarnette, Roger, Pariente, Jérémie, Dubois, Bruno, Pasquier, Florence, Jack, Jr, Clifford R., Koeppe, Robert, Snyder, Peter J., Aisen, Paul S., Thomas, Ronald G., Berry, Scott M., Wendelberger, Barbara A., Andersen, Scott W., Holdridge, Karen C., Mintun, Mark A., Yaari, Roy, Sims, John R., Baudler, Monika, Delmar, Paul, Doody, Rachelle S., Fontoura, Paulo, Giacobino, Caroline, Kerchner, Geoffrey A., and Bateman, Randall J.

Published
2021
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20. Downstream Biomarker Effects of Gantenerumab or Solanezumab in Dominantly Inherited Alzheimer Disease: The DIAN-TU-001 Randomized Clinical Trial

Author

Wagemann, Olivia, Liu, Haiyan, Wang, Guoqiao, Shi, Xinyu, Bittner, Tobias, Scelsi, Marzia A., Farlow, Martin R., Clifford, David B., Supnet-Bell, Charlene, Santacruz, Anna M., Aschenbrenner, Andrew J., Hassenstab, Jason J., Benzinger, Tammie L. S., Gordon, Brian A., Coalier, Kelley A., Cruchaga, Carlos, Ibanez, Laura, Perrin, Richard J., Xiong, Chengjie, Li, Yan, Morris, John C., Lah, James J., Berman, Sarah B., Roberson, Erik D., van Dyck, Christopher H., Galasko, Douglas, Gauthier, Serge, Hsiung, Ging-Yuek R., Brooks, William S., Pariente, Jérémie, Mummery, Catherine J., Day, Gregory S., Ringman, John M., Mendez, Patricio Chrem, St. George-Hyslop, Peter, Fox, Nick C., Suzuki, Kazushi, Okhravi, Hamid R., Chhatwal, Jasmeer, Levin, Johannes, Jucker, Mathias, Sims, John R., Holdridge, Karen C., Proctor, Nicholas K., Yaari, Roy, Andersen, Scott W., Mancini, Michele, Llibre-Guerra, Jorge, Bateman, Randall J., and McDade, Eric

Abstract

IMPORTANCE: Effects of antiamyloid agents, targeting either fibrillar or soluble monomeric amyloid peptides, on downstream biomarkers in cerebrospinal fluid (CSF) and plasma are largely unknown in dominantly inherited Alzheimer disease (DIAD). OBJECTIVE: To investigate longitudinal biomarker changes of synaptic dysfunction, neuroinflammation, and neurodegeneration in individuals with DIAD who are receiving antiamyloid treatment. DESIGN, SETTING, AND PARTICIPANTS: From 2012 to 2019, the Dominantly Inherited Alzheimer Network Trial Unit (DIAN-TU-001) study, a double-blind, placebo-controlled, randomized clinical trial, investigated gantenerumab and solanezumab in DIAD. Carriers of gene variants were assigned 3:1 to either drug or placebo. The present analysis was conducted from April to June 2023. DIAN-TU-001 spans 25 study sites in 7 countries. Biofluids and neuroimaging from carriers of DIAD gene variants in the gantenerumab, solanezumab, and placebo groups were analyzed. INTERVENTIONS: In 2016, initial dosing of gantenerumab, 225 mg (subcutaneously every 4 weeks) was increased every 8 weeks up to 1200 mg. In 2017, initial dosing of solanezumab, 400 mg (intravenously every 4 weeks) was increased up to 1600 mg every 4 weeks. MAIN OUTCOMES AND MEASURES: Longitudinal changes in CSF levels of neurogranin, soluble triggering receptor expressed on myeloid cells 2 (sTREM2), chitinase 3–like 1 protein (YKL-40), glial fibrillary acidic protein (GFAP), neurofilament light protein (NfL), and plasma levels of GFAP and NfL. RESULTS: Of 236 eligible participants screened, 43 were excluded. A total of 142 participants (mean [SD] age, 44 [10] years; 72 female [51%]) were included in the study (gantenerumab, 52 [37%]; solanezumab, 50 [35%]; placebo, 40 [28%]). Relative to placebo, gantenerumab significantly reduced CSF neurogranin level at year 4 (mean [SD] β = −242.43 [48.04] pg/mL; P < .001); reduced plasma GFAP level at year 1 (mean [SD] β = −0.02 [0.01] ng/mL; P = .02), year 2 (mean [SD] β = −0.03 [0.01] ng/mL; P = .002), and year 4 (mean [SD] β = −0.06 [0.02] ng/mL; P < .001); and increased CSF sTREM2 level at year 2 (mean [SD] β = 1.12 [0.43] ng/mL; P = .01) and year 4 (mean [SD] β = 1.06 [0.52] ng/mL; P = .04). Solanezumab significantly increased CSF NfL (log) at year 4 (mean [SD] β = 0.14 [0.06]; P = .02). Correlation analysis for rates of change found stronger correlations between CSF markers and fluid markers with Pittsburgh compound B positron emission tomography for solanezumab and placebo. CONCLUSIONS AND RELEVANCE: This randomized clinical trial supports the importance of fibrillar amyloid reduction in multiple AD-related processes of neuroinflammation and neurodegeneration in CSF and plasma in DIAD. Additional studies of antiaggregated amyloid therapies in sporadic AD and DIAD are needed to determine the utility of nonamyloid biomarkers in determining disease modification. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT04623242

Published
2024
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21. Disfluency patterns in Alzheimer's disease and frontotemporal lobar degeneration.

Author

Pistono, Aurélie, Pariente, Jérémie, and Jucla, Mélanie

Subjects
*ALZHEIMER'S disease, *DATA analysis, *PHONOLOGICAL awareness, *KRUSKAL-Wallis Test, *STUTTERING, *APHASIA, *FRONTOTEMPORAL lobar degeneration, *STATISTICS, *COMPARATIVE studies, *SEMANTICS
Abstract

Disfluencies may reflect various mechanisms: word-finding difficulties, planning strategies, inter-individual cognitive variability, etc. In the current paper, we examined disfluency production in patients with a behavioural variant of Frontotemporal lobar degeneration (bvFTLD), compared to patients with Alzheimer's disease (AD) and healthy older adults. We showed that bvFTLD participants have lower speech rate and produce more incomplete utterances. However, those measures were not correlated with naming and fluency tasks. On the contrary, AD participants did not differ from healthy controls on disfluency production, but discourse measures were correlated with the participants' lexical-semantic impairment. This provides evidence for different causes of disfluency in AD and FTLD, and a distinct role of each disfluency phenomenon. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Expressive Prosody in Patients With Focal Anterior Temporal Neurodegeneration

Author

Geraudie, Amandine, primary, Pressman, Peter S., additional, Pariente, Jérémie, additional, Millanski, Carly, additional, Palser, Eleanor R., additional, Ratnasiri, Buddhika M., additional, Battistella, Giovanni, additional, Mandelli, Maria Luisa, additional, Miller, Zachary A., additional, Miller, Bruce L., additional, Sturm, Virginia, additional, Rankin, Katherine P., additional, Gorno-Tempini, Maria Luisa, additional, and Montembeault, Maxime, additional

Published
2023
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24. Comparison of Pittsburgh compound B and florbetapir in cross-sectional and longitudinal studies

Author

Su, Yi, Flores, Shaney, Wang, Guoqiao, Hornbeck, Russ C., Speidel, Benjamin, Joseph-Mathurin, Nelly, Vlassenko, Andrei G., Gordon, Brian A., Koeppe, Robert A., Klunk, William E., Jack, Clifford R., Jr., Farlow, Martin R., Salloway, Stephen, Snider, Barbara J., Berman, Sarah B., Roberson, Erik D., Brosch, Jared, Jimenez-Velazques, Ivonne, van Dyck, Christopher H., Galasko, Douglas, Yuan, Shauna H., Jayadev, Suman, Honig, Lawrence S., Gauthier, Serge, Hsiung, Ging-Yuek R., Masellis, Mario, Brooks, William S., Fulham, Michael, Clarnette, Roger, Masters, Colin L., Wallon, David, Hannequin, Didier, Dubois, Bruno, Pariente, Jeremie, Sanchez-Valle, Raquel, Mummery, Catherine, Ringman, John M., Bottlaender, Michel, Klein, Gregory, Milosavljevic-Ristic, Smiljana, McDade, Eric, Xiong, Chengjie, Morris, John C., Bateman, Randall J., and Benzinger, Tammie L.S.

Published
2019
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26. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Author

Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João RM, Sears, Renee L, Ramos, Eliana Marisa, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L, Goizet, Cyril, Jen, Joanna C, Kirdlarp, Suppachok, Lang, Anthony E, Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S, Simpson, Sheila A, Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K, Vanakker, Olivier, Wessels, Marja W, Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H, Battini, Jean-Luc, and Coppola, Giovanni

Subjects
Humans, Brain Diseases, Metabolic, Inborn, Neurodegenerative Diseases, Calcinosis, Genetic Predisposition to Disease, Receptors, G-Protein-Coupled, Receptors, Virus, Pedigree, DNA Mutational Analysis, Lod Score, Mutation, Missense, Middle Aged, Female, Male, Genetic Association Studies, HEK293 Cells, Xenotropic and Polytropic Retrovirus Receptor, Neurosciences, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, implicating XPR1 and phosphate homeostasis in PFBC.

Published
2015

30. Physical activity, biomarkers of brain pathologies and dementia risk: Results from the Memento clinical cohort.

Author

Grasset, Leslie, Planche, Vincent, Bouteloup, Vincent, Azouani, Chabha, Dubois, Bruno, Blanc, Frédéric, Paquet, Claire, David, Renaud, Belin, Catherine, Jonveaux, Thérèse, Julian, Adrien, Pariente, Jérémie, Mangin, Jean‐François, Chêne, Geneviève, Dufouil, Carole, Allard, Michèle, Andrieu, Sandrine, Anthony, Pierre, Astier, Christine, and Augier, Alexandre

Published
2023
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31. Clinical heterogeneity of neuro-inflammatory PET profiles in early Alzheimer’s disease

Author

Gouilly, Dominique, primary, Salabert, Anne-Sophie, additional, Bertrand, Elsa, additional, Goubeaud, Marie, additional, Catala, Hélène, additional, Germain, Johanne, additional, Ainaoui, Nadéra, additional, Rafiq, Marie, additional, Benaiteau, Marie, additional, Carlier, Jasmine, additional, Nogueira, Leonor, additional, Planton, Mélanie, additional, Hitzel, Anne, additional, Méligne, Déborah, additional, Sarton, Benjamine, additional, Silva, Stein, additional, Lemesle, Béatrice, additional, Payoux, Pierre, additional, Thalamas, Claire, additional, Péran, Patrice, additional, and Pariente, Jérémie, additional

Published
2023
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34. Added value of 18F-florbetaben amyloid PET in the diagnostic workup of most complex patients with dementia in France: A naturalistic study

Author

Ceccaldi, Mathieu, Guedj, Eric, Felician, Olivier, Didic, Mira, Gueriot, Claude, Koric, Lejla, Kletchkova-Gantchev, Radka, Godefroy, Olivier, Andriuta, Daniela, Devendeville, Agnès, Dupuis, Diane, Binot, Ingrid, Barbay, Mélanie, Meyer, Marc-Etienne, Moullard, Véronique, Magnin, Eloi, Chamard, Ludivine, Haffen, Sophie, Morel, Olivier, Drouet, Clément, Boulahdour, Hatem, Goas, Philippe, Querellou-Lefranc, Solène, de la Sayette, Vincent, Cogez, Julien, Branger, Pierre, Agostini, Denis, Manrique, Alain, Rouaud, Olivier, Bejot, Yannick, Jacquin-Piques, Agnès, Dygai-Cochet, Inna, Berriolo-Riedinger, Alina, Moreaud, Olivier, Sauvee, Mathilde, Crépin, Céline Gallazzani, Pasquier, Florence, Bombois, Stéphanie, Lebouvier, Thibaud, Mackowiak-Cordoliani, Marie-Anne, Deramecourt, Vincent, Rollin-Sillaire, Adeline, Cassagnaud-Thuillet, Pascaline, Chen, Yaohua, Semah, Franck, Petyt, Grégory, Krolak-Salmon, Pierre, Federico, Denis, Danaila, Keren Liora, Guilhermet, Yves, Magnier, Christophe, Makaroff, Zaza, Rouch, Isabelle, Xie, Jing, Roubaud, Caroline, Coste, Marie-Hélène, David, Kenny, Sarciron, Alain, Waissi, Aziza Sediq, Scheiber, Christian, Houzard, Claire, Gabelle-Deloustal, Audrey, Bennys, Karim, Marelli, Cecilia, Touati, Lynda, Mariano-Goulart, Denis, de Verbizier-Lonjon, Delphine, Jonveaux, Thérèse, Benetos, Athanase, Kearney-Schwartz, Anna, Perret-Guillaume, Christine, Verger, Antoine, Vercelletto, Martine, Boutoleau-Bretonniere, Claire, Pouclet-Courtemanche, Hélène, Wagemann, Nathalie, Pallardy, Amandine, Hugon, Jacques, Paquet, Claire, Dumurgier, Julien, Millet, Pascal, Queneau, Mathieu, Dubois, Bruno, Epelbaum, Stéphane, Levy, Marcel, Habert, Marie-Odile, Novella, Jean-Luc, Jaidi, Yacine, Papathanassiou, Dimitri, Morland, David, Belliard, Serge, Salmon, Anne, Lejeune, Florence, Hannequin, Didier, Wallon, David, Martinaud, Olivier, Zarea, Aline, Chastan, Mathieu, Pariente, Jérémie, Thalamas, Claire, Galitzky-Gerber, Monique, Tricoire Ricard, Anne-Marie, Calvas, Fabienne, Rigal, Emilie, Payoux, Pierre, Hitzel, Anne, Delrieu, Julien, Ousset, Pierre-Jean, Lala, Françoise, Sastre-Hengan, Nathalie, Shields, Trevor, Perrotin, Audrey, Gismondi, Rossella, Bullich, Santiago, Jovalekic, Aleksandar, Raffa, Nicola, and Stephens, Andrew

Published
2018
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38. Analysis of Psychological Symptoms Following Disclosure of Amyloid-Positron Emission Tomography Imaging Results to Adults With Subjective Cognitive Decline

Author

Caprioglio, Camilla, Ribaldi, Federica, Visser, Leonie N. C., Minguillon, Carolina, Collij, Lyduine E., Grau-Rivera, Oriol, Zeyen, Philip, Molinuevo, José Luis, Gispert, Juan Domingo, Garibotto, Valentina, Moro, Christian, Walker, Zuzana, Edison, Paul, Demonet, Jean-François, Barkhof, Frederik, Scheltens, Philip, Alves, Isadora Lopes, Gismondi, Rossella, Farrar, Gill, Stephens, Andrew W., Jessen, Frank, Frisoni, Giovanni B., Altomare, Daniele, Abdelnour, Carla, Aguilera, Nuria, Aksman, Leon, Alarcón-Martín, Emilio, Alegret, Montse, Alonso-Lana, Silvia, Andersen, Pia, Arab, Majd, Aspö, Malin, Bader, Ilona, Bader, Ilse, Banton, Nigel, Barnes, Rodrigo, Barrie, Dawn, Battle, Mark, Belén Collado, Ana, Bellet, Julie, Berkhof, Johannes, Biger, Marine, Birck, Cindy, Bischof, Gerard, Boada, Mercè, Boellaard, Ronald, Bogdanovic, Nenad, Bollack, Ariane, Bombois, Stéphanie, Borg, Stefan, Borjesson-Hanson, Anne, Boskov, Vladimir, Boutantin, Justine, Boutoleau-Bretonniere, Claire, Bouwman, Femke, Breuilh, Laetitia, Bringman, Eva, Brunel, Baptiste, Bucci, Marco, Buckley, Chris, Buendía, Mar, Bullich, Santi, Calvet, Anna, Cañada, Laia, Cañada, Marta, Cardoso, Jorge, Carlier, Jasmine, Carre, Elise, Carrie, Isabelle, Cassagnaud, Pascaline, Cassol, Emmanuelle, Castilla-Martí, Miguel, Cazalon, Elodie, Chaarriau, Tiphaine, Chaigeau, Rachel, Chalmers, Taylor, Clerc, Marie-Thérèse, Clerigue, Montserrat, Cognat, Emmanuel, Coll, Nina, Collij, Lyduine E, Connely, Peter, Cordier, Elodie, Costes, Corine, Coulange, Camille, Courtemanche, Hélène, Creisson, Eric, Crinquette, Charlotte, Cuevas, Rosario, Cufi, Marie-Noëlle, Dardenne, Sophie, de Arriba, Maria, de Costa Luis, Casper, de Gier, Yvonne, de Verbizier Lonjon, Delphine, Dekker, Veronique, Dekyndt, Bérengère, Delbeuck, Xavier, Delrieu, Julien, Deramecourt, Vincent, Desclaux, Françoise, Diaz, Carlos, Diego, Susana, Djafar, Mehdi, Dölle, Britta, Doull, Laura, Dricot, Laurence, Drzezga, Alexander, Dubois, Bruno, Dumont, Julien, Dumur, Jean, Dumurgier, Julien, Dvorak, Martin, Ecay, Mirian, Escher, Claus, Estanga, Ainara, Esteban, Ester, Fanjaud, Guy, Fauria, Karine, Felez Sanchez, Marta, Feukam Talla, Patrick, Ford, Lisa, Frisoni, Giovanni B, Fuster, David, Gabelle, Audrey, Gaubert, Sinead, Gauci, Cédric, Geldhof, Christine, Georges, Jean, Ghika, Joseph, González, Elena, Goovaerts, Valerie, Goulart, Denis Mariano, Grasselli, Caroline, Gray, Katherine, Greensmith, Martin, Grozn, Laure, Guillemaud, Céline, Gunn, Fiona, Guntur Ramkumar, Prasad, Hagman, Göran, Hansseuw, Bernard, Heeman, Fiona, Hendriks, Janine, Himmelmann, Jakob, Hitzel, Anne, Hives, Florent, Hoenig, Merle, Hourrègue, Claire, Hudson, Justine, Huguet, Jordi, Ibarria, Marta, Iidow, Ifrah, Indart, Sandrine, Ingala, Silvia, Ivanoiu, Adrian, Jacquemont, Charlotte, Jelic, Vesna, Jiao, Jieqing, Jofresa, Sara, Jonsson, Cathrine, Kaliukhovich, Dzmitry, Kern, Silke, Kivipelto, Miia, Knezevic, Iva, Kuchcinski, Grégory, Laforce, Manon, Lafuente, Asunción, Lala, Françoise, Lammertsma, Adriaan, Lax, Michelle, Lebouvier, Thibaud, Lee, Ho-Yun, Lee, Lean, Leeuwis, Annebet, Lefort, Amandine, Legrand, Jean-François, Leroy, Mélanie, Lesoil Markowski, Constance, Levy, Marcel, Lhommel , Renaud, Lopes, Renaud, Lopes Alves, Isadora, Lorenzini, Luigi, Lorette, Adrien, Luckett, Emma, Lundin, Marie, Mackowiak, Marie-Anne, Malotaux, Vincent, Manber, Richard, Manyakov, Nikolay, Markiewicz, Pawel, Marne, Paula, Marquié, Marta, Martín, Elvira, Martínez, Joan, Martinez Lage, Pablo, Mastenbroek, Sophie E, Maureille, Aurélien, Meersmans, Karen, Mett, Anja, Milne, Joseph, Minguillón, Carolina, Modat, Marc, Montrreal, Laura, Müller, Theresa, Muniz, Graciela, Mutsarts, Henk Jan, Nilsson, Ted, Ninerola, Aida, Nordberg, Agneta, Novaes, Wilse, Nuno Carmelo Pires Silva, Joao, Operto, Greg, Orellana, Adela, Ousset, Pierre-Jean, Outteryck, Olivier, Pallardy, Amandine, Palombit, Alessandro, Pancho, Ana, Pappon, Martin, Paquet, Claire, Pariente, Jérémie, Pasquier, Florence, Payoux, Pierre, Peaker, Harry, Pelejà, Esther, Pennetier, Delphine, Pérez-Cordón, Alba, Perissinotti, Andrés, Perrenoud, Matthieu Paul, Petit, Sandrine, Petyt, Grégory, Pfeil, Julia, Pirotte, Blanche, Pla, Sandra, Plaza Wuthrich, Sonia, Poitrine, Lea, Pollet, Marianne, Poncelet, Jean-Benoit, Prior, John, Pruvo, Jean-Pierre, Putallaz, Pauline, Queneau, Mathieu, Quenon , Lisa, Rădoi, Andreea, Rafiq, Marie, Ramage, Fiona, Ramis, Maribel, Reinwald, Michael, Rios, Gonzalo, Ritchie, Craig, Rodriguez, Elena, Rollin, Adeline, Rouaud, Olivier, Sacuiu, Simona, Saint-Aubert, Laure, Sala, Arianna, Salabert, Anne-Sophie, Saldias, Jon, Salvadó, Gemma, Sanabria, Angela, Sannemann, Lena, Sastre, Nathalie, Savina, Daniela, Savitcheva, Irina, Schaeverbeke, Jolien, Schildermans, Carine, Schmidt, Mark, Schöll, Michael, Schuermans, Jeroen, Semah, Franck, Shekari, Mahnaz, Skoog, Ingmar, Sotolongo-Grau, Oscar, Stephens, Andrew, Stewart, Tiffany, Stutzmann, Jennyfer, Tait, Murray, Tárraga, Lluis, Tartari, Juan Pablo, Tysen-backstrom, Ann-christine, Valero, Sergi, Vallez Garcia, David, van Berckel, Bart N M, van Essen, Martijn, Van Laere, Koen, van Leur, Jeroen, van Maurik, Ingrid S, Vandenberghe, Rik, Vellas, Bruno, Virolinen, Jukka, Visser, Pieter Jelle, Walles, Håkan, Wallin, Emilia, Whitelaw, Grant, Wimberley, Catriona, Win , Zarni, Wink, Alle Meije, Wolz, Robin, Woodside, John, Yaqub, Maqsood, Zettergren, Anna, Medical Psychology, APH - Personalized Medicine, APH - Quality of Care, Radiology and nuclear medicine, Amsterdam Neuroscience - Neurodegeneration, Amsterdam Neuroscience - Brain Imaging, Amsterdam Neuroscience - Neuroinfection & -inflammation, CCA - Cancer Treatment and quality of life, CCA - Imaging and biomarkers, Neurology, Dekyndt, Bérengère, Delbeuck, Xavier, Delrieu, Julien, Demonet, Jean-François, Deramecourt, Vincent, Desclaux, Françoise, Diaz, Carlos, Diego, Susana, Djafar, Mehdi, Dölle, Britta, Doull, Laura, Dricot, Laurence, Drzezga, Alexander, Dubois, Bruno, Dumont, Julien, Dumur, Jean, Dumurgier, Julien, Dvorak, Martin, Ecay, Mirian, Edison, Paul, Escher, Claus, Estanga, Ainara, Esteban, Ester, Fanjaud, Guy, Farrar, Gill, Fauria, Karine, Felez Sanchez, Marta, Feukam Talla, Patrick, Ford, Lisa, Frisoni, Giovanni B, Fuster, David, Gabelle, Audrey, Garibotto, Valentina, Gaubert, Sinead, Gauci, Cédric, Geldhof, Christine, Georges, Jean, Ghika, Joseph, Gismondi, Rossella, Gispert, Juan Domingo, González, Elena, Goovaerts, Valerie, Goulart, Denis Mariano, Grasselli, Caroline, Grau-Rivera, Oriol, Gray, Katherine, Greensmith, Martin, Grozn, Laure, Guillemaud, Céline, Gunn, Fiona, Guntur Ramkumar, Prasad, Hagman, Göran, Hansseuw, Bernard, Heeman, Fiona, Hendriks, Janine, Himmelmann, Jakob, Hitzel, Anne, Hives, Florent, Hoenig, Merle, Hourrègue, Claire, Hudson, Justine, Huguet, Jordi, Ibarria, Marta, Iidow, Ifrah, Indart, Sandrine, Ingala, Silvia, Ivanoiu, Adrian, Jacquemont, Charlotte, Jelic, Vesna, Jessen, Frank, Jiao, Jieqing, Jofresa, Sara, Jonsson, Cathrine, Kaliukhovich, Dzmitry, Kern, Silke, Kivipelto, Miia, Knezevic, Iva, Kuchcinski, Grégory, Laforce, Manon, Lafuente, Asunción, Lala, Françoise, Lammertsma, Adriaan, Lax, Michelle, Lebouvier, Thibaud, Lee, Ho-Yun, Lee, Lean, Leeuwis, Annebet, Lefort, Amandine, Legrand, Jean-François, Leroy, Mélanie, Lesoil Markowski, Constance, Levy, Marcel, Lhommel, Renaud, Lopes, Renaud, Lopes Alves, Isadora, Lorenzini, Luigi, Lorette, Adrien, Luckett, Emma, Lundin, Marie, Mackowiak, Marie-Anne, Malotaux, Vincent, Manber, Richard, Manyakov, Nikolay, Markiewicz, Pawel, Marne, Paula, Marquié, Marta, Martín, Elvira, Martínez, Joan, Martinez Lage, Pablo, Mastenbroek, Sophie E, Maureille, Aurélien, Meersmans, Karen, Mett, Anja, Milne, Joseph, Minguillón, Carolina, Modat, Marc, Molinuevo, José Luis, Montrreal, Laura, Moro, Christian, Müller, Theresa, Muniz, Graciela, Mutsarts, Henk Jan, Nilsson, Ted, Ninerola, Aida, Nordberg, Agneta, Novaes, Wilse, Nuno Carmelo Pires Silva, Joao, Operto, Greg, Orellana, Adela, Ousset, Pierre-Jean, Outteryck, Olivier, Pallardy, Amandine, Palombit, Alessandro, Pancho, Ana, Pappon, Martin, Paquet, Claire, Pariente, Jérémie, Pasquier, Florence, Payoux, Pierre, Peaker, Harry, Abdelnour, Carla, Pelejà, Esther, Pennetier, Delphine, Pérez-Cordón, Alba, Perissinotti, Andrés, Perrenoud, Matthieu Paul, Petit, Sandrine, Petyt, Grégory, Pfeil, Julia, Pirotte, Blanche, Pla, Sandra, Aguilera, Nuria, Plaza Wuthrich, Sonia, Poitrine, Lea, Pollet, Marianne, Poncelet, Jean-Benoit, Prior, John, Pruvo, Jean-Pierre, Putallaz, Pauline, Queneau, Mathieu, Quenon, Lisa, Rădoi, Andreea, Aksman, Leon, Rafiq, Marie, Ramage, Fiona, Ramis, Maribel, Reinwald, Michael, Rios, Gonzalo, Ritchie, Craig, Rodriguez, Elena, Rollin, Adeline, Rouaud, Olivier, Sacuiu, Simona, Alarcón-Martín, Emilio, Saint-Aubert, Laure, Sala, Arianna, Salabert, Anne-Sophie, Saldias, Jon, Salvadó, Gemma, Sanabria, Angela, Sannemann, Lena, Sastre, Nathalie, Savina, Daniela, Savitcheva, Irina, Alegret, Montse, Schaeverbeke, Jolien, Scheltens, Philip, Schildermans, Carine, Schmidt, Mark, Schöll, Michael, Schuermans, Jeroen, Semah, Franck, Shekari, Mahnaz, Skoog, Ingmar, Sotolongo-Grau, Oscar, Alonso-Lana, Silvia, Stephens, Andrew, Stewart, Tiffany, Stutzmann, Jennyfer, Tait, Murray, Tárraga, Lluis, Tartari, Juan Pablo, Tysen-Backstrom, Ann-Christine, Valero, Sergi, Vallez Garcia, David, van Berckel, Bart N M, Altomare, Daniele, van Essen, Martijn, Van Laere, Koen, van Leur, Jeroen, van Maurik, Ingrid S, Vandenberghe, Rik, Vellas, Bruno, Virolinen, Jukka, Visser, Pieter Jelle, Walker, Zuzana, Walles, Håkan, Andersen, Pia, Wallin, Emilia, Whitelaw, Grant, Wimberley, Catriona, Win, Zarni, Wink, Alle Meije, Wolz, Robin, Woodside, John, Yaqub, Maqsood, Zettergren, Anna, Zeyen, Philip, Arab, Majd, Aspö, Malin, Bader, Ilona, Bader, Ilse, Banton, Nigel, Barkhof, Frederik, Barnes, Rodrigo, Barrie, Dawn, Battle, Mark, Belén Collado, Ana, Bellet, Julie, Berkhof, Johannes, Biger, Marine, Birck, Cindy, Bischof, Gerard, Boada, Mercè, Boellaard, Ronald, Bogdanovic, Nenad, Bollack, Ariane, Bombois, Stéphanie, Borg, Stefan, Borjesson-Hanson, Anne, Boskov, Vladimir, Boutantin, Justine, Boutoleau-Bretonniere, Claire, Bouwman, Femke, Breuilh, Laetitia, Bringman, Eva, Brunel, Baptiste, Bucci, Marco, Buckley, Chris, Buendía, Mar, Bullich, Santi, Calvet, Anna, Cañada, Laia, Cañada, Marta, Caprioglio, Camilla, Cardoso, Jorge, Carlier, Jasmine, Carre, Elise, Carrie, Isabelle, Cassagnaud, Pascaline, Cassol, Emmanuelle, Castilla-Martí, Miguel, Cazalon, Elodie, Chaarriau, Tiphaine, Chaigeau, Rachel, Chalmers, Taylor, Clerc, Marie-Thérèse, Clerigue, Montserrat, Cognat, Emmanuel, Coll, Nina, Collij, Lyduine E, Connely, Peter, Cordier, Elodie, Costes, Corine, Coulange, Camille, Courtemanche, Hélène, Creisson, Eric, Crinquette, Charlotte, Cuevas, Rosario, Cufi, Marie-Noëlle, Dardenne, Sophie, de Arriba, Maria, de Costa Luis, Casper, de Gier, Yvonne, de Verbizier Lonjon, Delphine, and Dekker, Veronique

Subjects
Male, Adult, metabolism [Brain], Positron-Emission Tomography, diagnosis [Alzheimer Disease], diagnostic imaging [Cognitive Dysfunction], Humans, metabolism [Amyloid beta-Peptides], ddc:610, Prospective Studies, Disclosure, General Medicine, Aged
Abstract

ImportanceIndividuals who are amyloid-positive with subjective cognitive decline and clinical features increasing the likelihood of preclinical Alzheimer disease (SCD+) are at higher risk of developing dementia. Some individuals with SCD+ undergo amyloid-positron emission tomography (PET) as part of research studies and frequently wish to know their amyloid status; however, the disclosure of a positive amyloid-PET result might have psychological risks.ObjectiveTo assess the psychological outcomes of the amyloid-PET result disclosure in individuals with SCD+ and explore which variables are associated with a safer disclosure in individuals who are amyloid positive.Design, Setting, and ParticipantsThis prospective, multicenter study was conducted as part of The Amyloid Imaging to Prevent Alzheimer Disease Diagnostic and Patient Management Study (AMYPAD-DPMS) (recruitment period: from April 2018 to October 2020). The setting was 5 European memory clinics, and participants included patients with SCD+ who underwent amyloid-PET. Statistical analysis was performed from July to October 2022.ExposuresDisclosure of amyloid-PET result.Main Outcomes and MeasuresPsychological outcomes were defined as (1) disclosure related distress, assessed using the Impact of Event Scale–Revised (IES-R; scores of at least 33 indicate probable presence of posttraumatic stress disorder [PTSD]); and (2) anxiety and depression, assessed using the Hospital Anxiety and Depression scale (HADS; scores of at least 15 indicate probable presence of severe mood disorder symptoms).ResultsAfter disclosure, 27 patients with amyloid-positive SCD+ (median [IQR] age, 70 [66-74] years; gender: 14 men [52%]; median [IQR] education: 15 [13 to 17] years, median [IQR] Mini-Mental State Examination [MMSE] score, 29 [28 to 30]) had higher median (IQR) IES-R total score (10 [2 to 14] vs 0 [0 to 2]; P P P P P = .06) and Depression (–1.0 [–2.0 to 0.0] vs –1.0 [–3.0 to 0.0]; P = .46) deltas (score after disclosure – scores at baseline). In patients with amyloid-positive SCD+, despite the small sample size, higher education was associated with lower disclosure-related distress (ρ = –0.43; P = .02) whereas the presence of study partner was associated with higher disclosure-related distress (W = 7.5; P = .03). No participants with amyloid-positive SCD+ showed probable presence of PTSD or severe anxiety or depression symptoms at follow-up.Conclusions and RelevanceThe disclosure of a positive amyloid-PET result to patients with SCD+ was associated with a bigger psychological change, yet such change did not reach the threshold for clinical concern.

Published
2023

43. Association between CSF biomarkers, hippocampal volume and cognitive function in patients with amnestic mild cognitive impairment (MCI)

Author

Nathan, Pradeep J., Lim, Yen Ying, Abbott, Rosemary, Galluzzi, Samantha, Marizzoni, Moira, Babiloni, Claudio, Albani, Diego, Bartres-Faz, David, Didic, Mira, Farotti, Lucia, Parnetti, Lucilla, Salvadori, Nicola, Müller, Bernhard W., Forloni, Gianluigi, Girtler, Nicola, Hensch, Tilman, Jovicich, Jorge, Leeuwis, Annebet, Marra, Camillo, Molinuevo, José Luis, Nobili, Flavio, Pariente, Jeremie, Payoux, Pierre, Ranjeva, Jean-Philippe, Rolandi, Elena, Rossini, Paolo Maria, Schönknecht, Peter, Soricelli, Andrea, Tsolaki, Magda, Visser, Pieter Jelle, Wiltfang, Jens, Richardson, Jill C., Bordet, Régis, Blin, Olivier, and Frisoni, Giovanni B.

Published
2017
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44. Post-stroke remodeling processes in animal models and humans

Author

Cirillo, Carla, Brihmat, Nabila, Castel-Lacanal, Evelyne, Le Friec, Alice, Barbieux-Guillot, Marianne, Raposo, Nicolas, Pariente, Jérémie, Viguier, Alain, Simonetta-Moreau, Marion, Albucher, Jean-François, Olivot, Jean-Marc, Desmoulin, Franck, Marque, Philippe, Chollet, François, and Loubinoux, Isabelle

Published
2020
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47. Cerebral perfusion using ASL in patients with COVID-19 and neurological manifestations: A retrospective multicenter observational study

Author

Ardellier, François-Daniel, primary, Baloglu, Seyyid, additional, Sokolska, Magdalena, additional, Noblet, Vincent, additional, Lersy, François, additional, Collange, Olivier, additional, Ferré, Jean-Christophe, additional, Maamar, Adel, additional, Carsin-Nicol, Béatrice, additional, Helms, Julie, additional, Schenck, Maleka, additional, Khalil, Antoine, additional, Gaudemer, Augustin, additional, Caillard, Sophie, additional, Pottecher, Julien, additional, Lefèbvre, Nicolas, additional, Zorn, Pierre-Emmanuel, additional, Matthieu, Muriel, additional, Brisset, Jean Christophe, additional, Boulay, Clotilde, additional, Mutschler, Véronique, additional, Hansmann, Yves, additional, Mertes, Paul-Michel, additional, Schneider, Francis, additional, Fafi-Kremer, Samira, additional, Ohana, Mickael, additional, Meziani, Ferhat, additional, Meyer, Nicolas, additional, Yousry, Tarek, additional, Anheim, Mathieu, additional, Cotton, François, additional, Jäger, Hans Rolf, additional, Kremer, Stéphane, additional, Bonneville, Fabrice, additional, Adam, Gilles, additional, Martin-Blondel, Guillaume, additional, Pariente, Jérémie, additional, Geeraerts, Thomas, additional, Oesterlé, Hélène, additional, Bolognini, Federico, additional, Messie, Julien, additional, Hmeydia, Ghazi, additional, Benzakoun, Joseph, additional, Oppenheim, Catherine, additional, Constans, Jean-Marc, additional, Metanbou, Serge, additional, Heintz, Adrien, additional, Bapst, Blanche, additional, Megdiche, Imen, additional, Jager, Lavinia, additional, Nesser, Patrick, additional, Mba, Yannick Talla, additional, Tourdias, Thomas, additional, Coutureau, Juliette, additional, Hemmert, Céline, additional, Feuerstein, Philippe, additional, Sebag, Nathan, additional, Carre, Sophie, additional, Alleg, Manel, additional, Lecocq, Claire, additional, Schmitt, Emmanuel, additional, Anxionnat, René, additional, Zhu, François, additional, Forestier, Géraud, additional, Rouchaud, Aymeric, additional, Comby, Pierre-Olivier, additional, Ricolfi, Frederic, additional, Thouant, Pierre, additional, Grand, Sylvie, additional, Krainik, Alexandre, additional, de Beaurepaire, Isaure, additional, Bornet, Grégoire, additional, Lacalm, Audrey, additional, Miailhes, Patrick, additional, Pique, Julie, additional, Boutet, Claire, additional, Fabre, Xavier, additional, Claise, Béatrice, additional, Mirafzal, Sonia, additional, Calvet, Laure, additional, Desal, Hubert, additional, Berge, Jérome, additional, Boulouis, Grégoire, additional, Kazemi, Apolline, additional, Pyatigorskaya, Nadya, additional, Lecler, Augustin, additional, Saleme, Suzana, additional, Edjlali-Goujon, Myriam, additional, Kerleroux, Basile, additional, Brisset, Jean-Christophe, additional, and Chenaf, Samir, additional

Published
2023
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48. Cerebrospinal fluid YKL‐40 level evolution is associated with autoimmune encephalitis remission

Author

Dorcet, Guillaume, primary, Benaiteau, Marie, additional, Pariente, Jérémie, additional, Ory‐Magne, Fabienne, additional, Cheuret, Emmanuel, additional, Rafiq, Marie, additional, Brooks, Wesley, additional, Puissant‐Lubrano, Bénédicte, additional, Fortenfant, Françoise, additional, Renaudineau, Yves, additional, and Bost, Chloé, additional

Published
2023
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49. Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience

Author

Sellami, Leila, Rucheton, Benoît, Ben Younes, Imen, Camuzat, Agnès, Saracino, Dario, Rinaldi, Daisy, Epelbaum, Stephane, Azuar, Carole, Levy, Richard, Auriacombe, Sophie, Hannequin, Didier, Pariente, Jérémie, Barbier, Mathieu, Boutoleau-Bretonnière, Claire, Couratier, Philippe, Pasquier, Florence, Deramecourt, Vincent, Sauvée, Mathilde, Sarazin, Marie, Lagarde, Julien, Roué-Jagot, Carole, Forlani, Sylvie, Jornea, Ludmila, David, Isabelle, LeGuern, Eric, Dubois, Bruno, Brice, Alexis, Clot, Fabienne, Lamari, Foudil, and Le Ber, Isabelle

Published
2020
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50. Huntington's Disease with Small CAG Repeat Expansions.

Author

Heinzmann, Anna, Sayah, Sabrina, Lejeune, François‐Xavier, Hahn, Valérie, Teichmann, Marc, Monin, Marie‐Lorraine, Marchionni, Enrica, Gérard, Fleur, Charles, Perrine, Pariente, Jérémie, and Durr, Alexandra

Abstract

Background: Carriers of small cytosine‐adenine‐guanine (CAG) repeats below 39 in the HTT gene are traditionally associated with milder Huntington's disease, but their clinical profile has not been extensively studied. Objective: To study the phenotype of CAG36‐38 repeat carriers. Methods: We included 35 patients and premanifest carriers of CAG36‐38 repeats. We compared clinical and neuropsychological profiles of 11 CAG36‐38 patients with 11 matched CAG40‐42 patients. In addition, we analyzed 243 CAG36‐38 individuals from the ENROLL study to complete the phenotype description. Results: Global cognitive efficiency and performance in different cognitive subdomains were similar in small CAG36‐38 and typically CAG40‐42 expanded individuals. Chorea as the first symptom was significantly less frequent for CAG36‐38 patients (P = 0.04) despite similar total motor scores at first visit. Total motor score at last visit was significantly lower in CAG36‐38 carriers (P = 0.003). The similar cognitive and different motor profile of CAG36‐38 (n = 243) and CAG40‐42 (n = 4675) carriers was confirmed in the ENROLL database. Additionally, clinicians were significantly less confident in diagnosing Huntington's disease (P = 2.4e−8) and diagnosis happened significantly later in CAG36‐38 (P = 2.2e−6) despite a similar age at symptom onset (P = 0.29). Conclusions: We showed that small CAG36‐38 expansion carriers had a similar cognitive profile to those with the more common CAG40‐42 expansions. These individuals may evade molecular diagnosis because of the absence of chorea rather than because of a low penetrance of symptoms. This finding should encourage neurologists to consider Huntington's disease in cognitively impaired elderly patients without typical chorea and anticipate consequences for genetic counseling in their offspring. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2023
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