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

Authors: 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, Wallon, David

Source: In Genetics in Medicine May 2024 26(5)

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

Authors: Houdayer, Clara, Rooney, Kathleen, van der Laan, Liselot, Bris, Céline, Alders, Mariëlle, Bahr, Angela, Barcia, Giulia, Battault, Clarisse, Begemann, Anais, Bonneau, Dominique, Bonnevalle, Antoine, Boughalem, Aicha, Bourges, Alice, Bournez, Marie, Bruel, Ange-Line, Buhas, Daniela, Carallis, Floriane, Cogné, Benjamin, Cormier-Daire, Valérie, Delanne, Julian, Demaret, Tanguy, Denommé-Pichon, Anne-Sophie, Désir, Julie, Dubourg, Christèle, Fradin, Mélanie, Geneviève, David, Goel, Himanshu, Goldenberg, Alice, Gripp, Karen W., Guichet, Agnès, Guimier, Anne, Jacquinet, Adeline, Keren, Boris, Legoff, Louis, Levy, Michael A., McConkey, Haley, Mendelsohn, Bryce A., Mignot, Cyril, Milon, Vincent, Nizon, Mathilde, Oneda, Beatrice, Pasquier, Laurent, Patat, Olivier, Philippe, Christophe, Procaccio, Vincent, Procopio, Rebecca, Prouteau, Clément, Rambaud, Thomas, Rauch, Anita, Relator, Raissa, Rondeau, Sophie, Santen, Gijs W E., Schleit, Jennifer, Sorlin, Arthur, Steindl, Katharina, Tedder, Matt, Tessarech, Marine, Mau-Them, Frédéric Tran, Trost, Detlef, Van der Sluijs, Pleuntje J, Vincent, Marie, Whalen, Sandra, Thauvin-Robinet, Christel, Isidor, Bertrand, Sadikovic, Bekim, Vitobello, Antonio, Colin, Estelle

Source: European Journal of Human Genetics: EJHG; 20250101, Issue: Preprints p1-10, 10p

Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

Authors: Lecoquierre, François, Bonnevalle, Antoine, Chadie, Alexandra, Gayet, Claire, Dumant‐Forest, Clémentine, Renaux‐Petel, Mariette, Leca, Jean‐Baptiste, Hazelzet, Tristan, Brasseur‐Daudruy, Marie, Louillet, Ferielle, Muraine, Marc, Coutant, Sophie, Quenez, Olivier, Boland, Anne, Deleuze, Jean‐François, Frebourg, Thierry, Goldenberg, Alice, Saugier‐Veber, Pascale, Guerrot, Anne‐Marie, Nicolas, Gaël

Source: American journal of medical genetics.Part A. 179(11):2257-2262

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100090873440.0x000001&indx=1&recIds=ETOCvdc_100090873440.0x000001

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Authors: Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M. Natalia, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V., Morsy, Heba, Scardamaglia, Annarita

Source: Nature Communications; 3/13/2024, Vol. 15 Issue 1, p1-20, 20p

Subject Terms: FAMILIAL spastic paraplegia, CALCIFICATION, ACETYLATION, MEMBRANE proteins, MOVEMENT disorders, COGNITION disorders

Upstream open reading frame-introducing variants in patients with primary familial brain calcification

Authors: Rovelet-Lecrux, Anne, Bonnevalle, Antoine, Quenez, Olivier, Delcroix, Wandrille, Cassinari, Kévin, Richard, Anne-Claire, Boland, Anne, Deleuze, Jean-François, Goizet, Cyril, Rucar, Alice, Verny, Christophe, Nguyen, Karine, Lecourtois, Magalie, Nicolas, Gaël

Source: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-7, 7p

Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers.

Authors: Wallon, David, Boluda, Susana, Rovelet-Lecrux, Anne, Thierry, Manon, Lagarde, Julien, Miguel, Laetitia, Lecourtois, Magalie, Bonnevalle, Antoine, Sarazin, Marie, Bottlaender, Michel, Mula, Mathieu, Marty, Serge, Nakamura, Natsuko, Schramm, Catherine, Sellal, François, Jonveaux, Thérèse, Heitz, Camille, Le Ber, Isabelle, Epelbaum, Stéphane, Magnin, Eloi

Source: Acta Neuropathologica; Aug2021, Vol. 142 Issue 2, p259-278, 20p

Subject Terms: PROGRESSIVE supranuclear palsy, POSITRON emission tomography, NEUROFIBRILLARY tangles, DOPAMINE receptors, AMYLOID plaque, TAU proteins, DISEASE progression, TAUOPATHIES

Phenotypes associated with MAPT duplications: Genetics/genetic factors of non‐Alzheimer's tauopathies.

Authors: Wallon, David, Bonnevalle, Antoine, Rovelet‐Lecrux, Anne, Lagarde, Julien, Sarazin, Marie, Bottlaender, Michel, Sellal, François, Jonveaux, Therese, Heitz, Camille, Magnin, Eloi, Ber, Isabelle Le, Epelbaum, Stéphane, Quillard‐Muraine, Muriel, Chastan, Mathieu, Hannequin, Didier, Boluda, Susana, Rousseau, Stéphane, Richard, Anne‐Claire, Quenez, Olivier, Charbonnier, Camille

Source: Alzheimer's & Dementia: The Journal of the Alzheimer's Association; Dec2020 Supplement S11, Vol. 16 Issue 11, p1-2, 2p

An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.

Authors: Boutouchent, Nassim, Bourilhon, Julie, Sudrié-Arnaud, Bénédicte, Bonnevalle, Antoine, Guyant-Maréchal, Lucie, Acquaviva, Cécile, Dujardin-Ippolito, Loréna, Bekri, Soumeya, Dabaj, Ivana, Tebani, Abdellah

Source: Diagnostics (2075-4418); Sep2021, Vol. 11 Issue 9, p1561, 1p

Subject Terms: SYMPTOMS, WHITE matter (Nerve tissue), TREMOR, GENETIC disorders, GENETIC variation, ACETONEMIA