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1. Neuro-Psychological Outcome of ICU-Admitted COVID-19 Patients Presenting With CNS Complications

Author

Pelle, Juliette, Nedelec, Thomas, Marois, Clémence, Delorme, Cecile, Corvol, Jean-Christophe, Delattre, Jean-Yves, Carvalho, Stephanie, Sagnes, Sandrine, Dubois, Bruno, Navarro, Vincent, Louapre, Celine, Stojkovic, Tanya, Idbaih, Ahmed, Rosso, Charlotte, Grabli, David, Gales, Ana Zenovia, Millet, Bruno, Rohaut, Benjamin, Bayen, Eleonore, Dupont, Sophie, Bruneteau, Gaelle, Lehericy, Stephane, Seilhean, Danielle, Durr, Alexandra, Lamari, Foudil, Houot, Marion, Brochard, Vanessa Batista, Lubetzki, Catherine, Seilhean, Danielle, Pradat-Diehl, Pascale, Rosso, Charlotte, Hoang-Xuan, Khe, Fontaine, Bertrand, Naccache, Lionel, Fossati, Philippe, Arnulf, Isabelle, Durr, Alexandra, Carpentier, Alexandre, Edel, Yves, Robain, Gilberte, Thoumie, Philippe, Degos, Bertrand, Sharshar, Tarek, Alamowitch, Sonia, Apartis-Bourdieu, Emmanuelle, Peretti, Charles-Siegried, Ursu, Renata, Dzierzynski, Nathalie, Bourron, Kiyoka Kinugawa, Belmin, Joel, Oquendo, Bruno, Pautas, Eric, Verny, Marc, Samson, Yves, Leder, Sara, Leger, Anne, Deltour, Sandrine, Baronnet, Flore, Bombois, Stephanie, Touat, Mehdi, Idbaih, Ahmed, Sanson, Marc, Dehais, Caroline, Houillier, Caroline, Laigle-Donadey, Florence, Psimaras, Dimitri, Alenton, Agusti, Younan, Nadia, Villain, Nicolas, Grabli, David, del Mar Amador, Maria, Bruneteau, Gaelle, Louapre, Celine, Mariani, Louise-Laure, Mezouar, Nicolas, Mangone, Graziella, Meneret, Aurelie, Hartmann, Andreas, Tarrano, Clement, Bendetowicz, David, Pradat, Pierre-François, Baulac, Michel, Sambin, Sara, Pichit, Phintip, Chochon, Florence, Hesters, Adele, Herlin, Bastien, Nguyen, An Hung, Procher, Valerie, Demoule, Alexandre, Morawiec, Elise, Mayaux, Julien, Faure, Morgan, Ewenczyk, Claire, Coarelli, Giulia, Heinzmann, Anna, Stojkovic, Tanya, Masingue, Marion, Bassez, Guillaume, Navarro, Vincent, An, Isabelle, Worbe, Yulia, Lambrecq, Virginie, Debs, Rabab, Musat, Esteban Munoz, Lenglet, Timothee, Lambrecq, Virginie, Hanin, Aurelie, Chougar, Lydia, Shor, Nathalia, Pyatigorskaya, Nadya, Galanaud, Damien, Leclercq, Delphine, Demeret, Sophie, Rohaut, Benjamin, Cao, Albert, Marois, Clemence, Weiss, Nicolas, Gassama, Salimata, Guennec, Loic Le, Degos, Vincent, Jacquens, Alice, Similowski, Thomas, Morelot-Panzini, Capucine, Rotge, Jean-Yves, Saudreau, Bertrand, Millet, Bruno, Pitron, Victor, Sarni, Nassim, Girault, Nathalie, Maatoug, Redwan, Leu, Smaranda, Bayen, Eleonore, Thivard, Lionel, Mokhtari, Karima, Plu, Isabelle, Gonçalves, Bruno, Bottin, Laure, Yger, Marion, Ouvrard, Gaelle, Haddad, Rebecca, Ketz, Flora, Lafuente, Carmelo, Oasi, Christel, Megabarne, Bruno, Herve, Dominique, Salman, Haysam, Rametti-Lacroux, Armelle, Chalançon, Alize, Herve, Anais, Royer, Hugo, Beauzor, Florence, Maheo, Valentine, Laganot, Christelle, Minelli, Camille, Fekete, Aurelie, Grine, Abel, Biet, Marie, Hilab, Rania, Besnard, Aurore, Bouguerra, Meriem, Goudard, Gwen, Houairi, Saida, Al-Youssef, Saba, Pires, Christine, Oukhedouma, Anissa, Siuda-Krzywicka, Katarzyna, Malkinson, Tal Seidel, Agguini, Hanane, Said, Safia, and Houot, Marion

Published
2023
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3. Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

Author

Miller, Timothy M, Cudkowicz, Merit E, Andrews, Jinsy A, Hesters, Adele, Kermorvant, Hugo, Lacomblez, Lucette, Forestier, Nadine Le, Lenglet, Thimotée, Retail, Maryvonne, Ruiz Del Mar Amador, Maria, Salachas, François, Shotar, Eimad, Sourour, Nader, Babu, Suma, Dorst, Johannes, Froehlich, Elke, Fromm, Andrea, Kandler, Katharina, Langer, Eva, Leichtle, Sarah, Ludolph, Albert, Mayer, Kristina, Michels, Sebastian, Raubold, Sabine, Benatar, Michael, Schuster, Joachim, Weiland, Ulrike, Wiesenfarth, Maximilian, Witzel, Simon, Calvo, Andrea, Canosa, Antonio, Casale, Federico, Chiò, Adriano, Fuda, Giuseppe, Grassano, Maurizio, McDermott, Christopher J, Marchese, Giulia, Moglia, Cristina, Palumbo, Francesca, Salamone, Paolina, Ajiki, Takahiro, Akasaka, Aya, Ando, Masahiro, Arata, Hitoshi, Asuka, Kitamura, Baba, Kosuke, Cochrane, Thos, Bekku, Goichi, Chiba, Tomoya, Date, Yugaku, Eriko, Takeuchi, Hashiguchi, Akihiro, Hatatori, Ritsuko, Hayano, Eri, Hayashi, Yuto, Higashi, Keiko, Higuchi, Eriko, Chary, Sowmya, Hiramatsu, Yu, Horikawa, Rui, Ikenaka, Kensuke, Ishiura, Hiroyuki, Ito, Daisuke, Kawai, Sachiko, Kikuchi, Junko, Kuzuyama, Haruko, Li, Xuehong, Matsumoto, Chika, Chew, Sheena, Matsuura, Eiji, Michizono, Kumiko, Mitsui, Jun, Mitsutake, Akihiko, Mochizuki, Hideki, Nagamatsu, Akemi, Nagano, Seiichi, Nakamura, Tomonori, Naruse, Hiroya, Ogasawara, Asuka, Zhu, Han, Okada, Kensuke, Okamoto, Yuji, Okuno, Tatsusada, Oyama, Satoshi, Ozono, Tatsuhiko, Sakiyama, Yusuke, Sakuishi, Kaori, Seki, Morinobu, Shibata, Shota, Shimizu, Mikito, Wu, Fan, Takahata, Katsunori, Takahito, Yoshizaki, Takashima, Hiroshi, Takeichi, Hiroko, Tashiro, Yuichi, Toda, Tatsushi, Tomizu, Yuki, Tomoya, Wadayama, Ujiakira, Nishiike, Yashita, Daiki, Nestorov, Ivan, Al-Chalabi, Ammar, Alix, James, Bangalore, Priyadarshini, Blackburn, Daniel, Chiwera, Theresa, Clegg, Rosie, Collins, Alexis, Cooper-Knock, Jonathan, Emery, Anna, Franklin, John, Genge, Angela, Graham, Danielle, Green, Louisa, Harvey, Callum, Hobson, Esther, Islam, Mahjabim, Jenkins, Thomas Michael, Kazoka, Mbombe, Kelly, Gillian, Korley, Mercy, Madarshahaian, Daniel, Mayl, Keith, Sun, Peng, McDermott, Christopher John, Radford, Alex, Shaw, Christopher, Shaw, Pamela J, Sidebottom, Joe, Smart, Lynne, Sreedharan, Jemeen, Stone, Ben, Tsironis, Theocharis, Tuddenham, Lee, McNeill, Manjit, Verber, Nick, Wollff, Helen, Young, Stacy, Zis, Panagiotis, Adamo, Ashley, Ahmed, Arubah, Ajroud-Driss, Senda, Alameda, Gustave, Arcila-Londono, Ximena, Fanning, Laura, Baird, Candy, Bazan, Tracy, Berry, James, Bordeau, Jane, Bradford, Wendy, Brook, Nyda, Brown, Lauren, Bucelli, Robert C, Ferguson, Toby A, Buckner, Katherine, Budler, Michael W, Burba, Lindita, Burke, Katherine, Calhoun, Ashley D, Campbell, Sarah, Carey, Judith, Caristo, Irys B, Carty, Simon, Chan, Emmanuel, Fradette, Stephanie, Chaudhry, Vinay, Chen, Ricky, Chow, Saephanh, Clawson, Lora L, Clemens, Mitchell, Cloninger, Suzann E, Coleman-Wood, Krista, Cooper, Thomas N, Cummings, Arlena, Daniels, Jacquelyn, VALOR, DeSaro, Pamela, DeWitt, Michelle, Dedi, Brixhilda, Dempsey, Debbie, Denny, Carol, Doherty, Jenna, Doherty, Leana, Donahue, Megan, Doyle, Michael, Duncan, Jessie, Group, OLE Working, Elman, Lauren, Eloge, Christine M, Echiti, Desirae R, Ferrey, Dominic, Fournier, Christina, Fukumura, Yuriko, Gallagher, Katherine, Garaycoa, Jessica, Garrett, Mark, Gibson, Richard L, Beullens, Lien, Gifford, Ryan, Glass, Jonathan D, Gogol, Danuta, Golden, Shea, Gonzalez, Alexa, Goodman, Ira, Goolsby, Christopher, Goslin, Kimberly, Goulbourne, Michael, Granit, Volkan, Claeys, Kristl, Grignon, Anne-Laure, GuhaRay, Adreeja, Guide, Debra, Gundogdu, Melek Betul, Gutierrez, Gil, Hastings, Debbie, Hayzen, Colleen, Herzog, Hilary, Holloway, Raegan, Jacobs, Gabriel, Claeys, Thomas, Jacobsen, Bill, James, Virginia, Jenkins, Liberty, Jockel-Balsarotti, Jennifer, Johnson, Linda Carol, Jose, Sunil, Joslin, Benjamin, Karanja, Elizabeth, Katz, Jonathan, Keener, Anthony, Couwelier, Goedele, Kittle, Gale, Klein, Sara, Kreple, Collin, Rebecca, Rebecca, Kuenzler, Kuenzler, Kusnir, Jorge, Labbe, Kristen, Lachica-Encinas, Nicolet, Ladha, Shafeeq, Leimer, Lesli, D'Hondt, Ann, Levy, Michael, Levy, Wendy, Li, Yingji, Likanje, Marie-France, Livigni, Rebecca, Locatelli, Eduardo, Luppino, Sarah, Malcolm, Amber, Maragakis, Nicholas, Marin, Horia, Debien, Elisa, Markowitz, Clyde, Markway, Jesse, McCaffrey, Alexandra, McCoy, Arita, McCoy Gross, Kelly, Mehta, Kush, Meyer, Robert, Milan, Jennifer, Miller, Timothy, Miller, Robert G, de Keersmaecker, Sebastiaan, Morales, Francisco, Mosmiller, Elizabeth, Mott, Donovan, Moulton, Kelsey, Murphy, Christine A, Negron, Tirso, Nelson, Cassandra, Newman, Daniel S, Nissinen, Janne Kristoffer, Norman, Andrew, Della Faille, Laetitia, Ohkubo, Takuya, Olney, Nicholas, Ortiz, Natasha, Oskarsson, Bjorn, Pace, Mitchell, Packard, Kathleen, Padgett, Denny, Paganoni, Sabrina, Paredes, Maria E, Parker, Elizabeth, Delmotte, Koen, Partlow, Ann, Pattee, Gary L, Paulett, Jany, Pelot, Antoinette, Pfeifer, Kyle M, Pijanowski, Olivia, Pioro, Erik, Polak, Meraida, Prakash, Ahalya, Previte, Rosemarie, Depoortere, Sofie, Pukenas, Bryan, Quinn, Colin, Ravits, John, Razavi, Ryan, Regan, Tyler, Riley, Kristen M, Roth, Heather, Sanders, Danica, Scalia, Jennifer, Schmidt, Emma, de Velder, Laura, Schwen, Edward, Shah, Jaimin, Shah, Stuti, Shefner, Jeremy, Sheldon, Danielle, Simmons, Karon, Singh, Navneet K, Singleton, Jessica, Smiley, Richard, Smith, William B, Dobbels, Laurens, Smith, Sean, Sotirchos, Elias, Sorenson, Eric, Staff, Nathan, Steele, Julie, Steijlen, Kara, Stirrat, Taylor, Stoica, George S, Strong, Stephanie, Sufit, Robert, Sobue, Gen, Gijs, Jeroen, Sultze, Jane, Swartz, Amy, Szymanski, April, Tay, Anna, Thakore, Nimish, Thiessen, Diana, Thotala, Sukrutha, Trudell, Randall G, Turcotte, Nicole, Turner, Michelle, Horckmans, Simon, Uchil, Alpa, Upadhyay, Vihar, Usman, Uzma, Vallis, Anne, Vaporean-Bussey, Danielle, Vladimirova, Valentine, Weber, Harli, Winbigler, Jennifer, Wojanowski, Heather, Wulf, Charlie, Lamaire, Nikita, Yasek, Julia, Yoo, Stephanie, Zivalic, Hannah, Cole, Alexandra, File, Greta, Foate, Jeremy, Mason, Deborah, Newton, Susan, Roberts, Stephen, Sellwood, Cory Dean, Liessens, Hannelore, Swan, James, Werno, Anja, Zhong, Cathy, Masrori, Pegah, Nysten, Celine, Schotte, Caroline, Serrien, Anouk, Swinnen, Bart, Tilkin, Petra, van Daele, Sien, Van Damme, Philip, Vynckier, Jan, Wouters, Anke, Abrahao, Agessandro, Angle, Mark, Badawy, Mohamed, Berube, Maxime, Bertone, Vanessa, Cooper, Sarah Marie, Dobrowolski, Peter, Fong, Helen, Hannouche, Matthew, Hartley, Denise, Hogan, Michael, Johnston, Wendy, Khalfallah, Yousra, Korngut, Lawrence, Kroetsch, Gina, Letourneau, Justin, Magnussen, Claire, Martinez, Jose, Massie, Rami, Mobach, Theodore, Mookshah, Jahan, Ozelsel, Timur, Parks, Andrea, Petrillo, Janet, Pfeffer, Gerald, Ludolph, Albert C, Pham, Shirley, Phung, Liane, Shiungsun, Rodney, Pi-Shan, Li, Santos, Denizart, Salmon, Kristiana, Saunders, Natalie, Sembinelli, Dylan, Tymkow, Kelsey, Wong, Berchman, Zinman, Lorne, Karlsborg, Merete, Pedersen Lomholt, Therese, Nilsson, Sigrid, Salvesen, Lisette, Skov, Pernille, Svenstrup, Kristen, Bruneteau, Gaelle, Calerencon, Frederic, and Guimaraes Costa, Raquel

Subjects
Adult, drug effects [Recovery of Function], Spinal, Oligonucleotides, blood [Neurofilament Proteins], administration & dosage [Oligonucleotides, Antisense], tofersen, Injections, blood [Amyotrophic Lateral Sclerosis], pharmacology [Oligonucleotides, Antisense], Superoxide Dismutase-1, Double-Blind Method, Neurofilament Proteins, Humans, ddc:610, Antisense, Injections, Spinal, Biomarkers, Recovery of Function, Amyotrophic Lateral Sclerosis, Oligonucleotides, Antisense, blood [Biomarkers], drug therapy [Amyotrophic Lateral Sclerosis], therapeutic use [Oligonucleotides, Antisense], SOD1 protein, human, General Medicine, genetics [Superoxide Dismutase-1], genetics [Amyotrophic Lateral Sclerosis], cerebrospinal fluid [Biomarkers], cerebrospinal fluid [Superoxide Dismutase-1], cerebrospinal fluid [Amyotrophic Lateral Sclerosis]
Abstract

The intrathecally administered antisense oligonucleotide tofersen reduces synthesis of the superoxide dismutase 1 (SOD1) protein and is being studied in patients with amyotrophic lateral sclerosis (ALS) associated with mutations in SOD1 (SOD1 ALS).In this phase 3 trial, we randomly assigned adults with SOD1 ALS in a 2:1 ratio to receive eight doses of tofersen (100 mg) or placebo over a period of 24 weeks. The primary end point was the change from baseline to week 28 in the total score on the ALS Functional Rating Scale-Revised (ALSFRS-R; range, 0 to 48, with higher scores indicating better function) among participants predicted to have faster-progressing disease. Secondary end points included changes in the total concentration of SOD1 protein in cerebrospinal fluid (CSF), in the concentration of neurofilament light chains in plasma, in slow vital capacity, and in handheld dynamometry in 16 muscles. A combined analysis of the randomized component of the trial and its open-label extension at 52 weeks compared the results in participants who started tofersen at trial entry (early-start cohort) with those in participants who switched from placebo to the drug at week 28 (delayed-start cohort).A total of 72 participants received tofersen (39 predicted to have faster progression), and 36 received placebo (21 predicted to have faster progression). Tofersen led to greater reductions in concentrations of SOD1 in CSF and of neurofilament light chains in plasma than placebo. In the faster-progression subgroup (primary analysis), the change to week 28 in the ALSFRS-R score was -6.98 with tofersen and -8.14 with placebo (difference, 1.2 points; 95% confidence interval [CI], -3.2 to 5.5; P = 0.97). Results for secondary clinical end points did not differ significantly between the two groups. A total of 95 participants (88%) entered the open-label extension. At 52 weeks, the change in the ALSFRS-R score was -6.0 in the early-start cohort and -9.5 in the delayed-start cohort (difference, 3.5 points; 95% CI, 0.4 to 6.7); non-multiplicity-adjusted differences favoring early-start tofersen were seen for other end points. Lumbar puncture-related adverse events were common. Neurologic serious adverse events occurred in 7% of tofersen recipients.In persons with SOD1 ALS, tofersen reduced concentrations of SOD1 in CSF and of neurofilament light chains in plasma over 28 weeks but did not improve clinical end points and was associated with adverse events. The potential effects of earlier as compared with delayed initiation of tofersen are being further evaluated in the extension phase. (Funded by Biogen; VALOR and OLE ClinicalTrials.gov numbers, NCT02623699 and NCT03070119; EudraCT numbers, 2015-004098-33 and 2016-003225-41.).

Published
2022

4. Extrapyramidal deficits in ALS: a combined biomechanical and neuroimaging study

Author

Feron, Maryse, Couillandre, Annabelle, Mseddi, Eya, Termoz, Nicolas, Abidi, Malek, Bardinet, Eric, Delgadillo, Daniel, Lenglet, Timothée, Querin, Giorgia, Welter, Marie-Laure, Le Forestier, Nadine, Salachas, François, Bruneteau, Gaelle, del Mar Amador, Maria, Debs, Rabab, Lacomblez, Lucette, Meininger, Vincent, Pélégrini-Issac, Mélanie, Bede, Peter, Pradat, Pierre-François, and de Marco, Giovanni

Published
2018
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9. Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles

Author

Le Gall, Laura, primary, Duddy, William J., additional, Martinat, Cecile, additional, Mariot, Virginie, additional, Connolly, Owen, additional, Milla, Vanessa, additional, Anakor, Ekene, additional, Ouandaogo, Zamalou G., additional, Millecamps, Stephanie, additional, Lainé, Jeanne, additional, Vijayakumar, Udaya Geetha, additional, Knoblach, Susan, additional, Raoul, Cedric, additional, Lucas, Olivier, additional, Loeffler, Jean Philippe, additional, Bede, Peter, additional, Behin, Anthony, additional, Blasco, Helene, additional, Bruneteau, Gaelle, additional, Del Mar Amador, Maria, additional, Devos, David, additional, Henriques, Alexandre, additional, Hesters, Adele, additional, Lacomblez, Lucette, additional, Laforet, Pascal, additional, Langlet, Timothee, additional, Leblanc, Pascal, additional, Le Forestier, Nadine, additional, Maisonobe, Thierry, additional, Meininger, Vincent, additional, Robelin, Laura, additional, Salachas, Francois, additional, Stojkovic, Tanya, additional, Querin, Giorgia, additional, Dumonceaux, Julie, additional, Butler Browne, Gillian, additional, González De Aguilar, Jose‐Luis, additional, Duguez, Stephanie, additional, and Pradat, Pierre Francois, additional

Published
2022
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10. The wide spectrum of COVID-19 neuropsychiatric complications within a multidisciplinary centre

Author

Delorme, Cécile, Houot, Marion, Rosso, Charlotte, Carvalho, Stéphanie, Nedelec, Thomas, Maatoug, Redwan, Pitron, Victor, Gassama, Salimata, Sambin, Sara, Bombois, Stéphanie, Herlin, Bastien, Ouvrard, Gaëlle, Bruneteau, Gaëlle, Hesters, Adèle, Gales, Ana Zenovia, Millet, Bruno, Lamari, Foudil, Lehericy, Stéphane, Navarro, Vincent, Rohaut, Benjamin, Demeret, Sophie, Maisonobe, Thierry, Yger, Marion, Degos, Bertrand, Mariani, Louise-Laure, Bouche, Christophe, Dzierzynski, Nathalie, Oquendo, Bruno, Ketz, Flora, Nguyen, An-Hung, Kas, Aurélie, Lubetzki, Catherine, Delattre, Jean-Yves, Corvol, Jean-Christophe, Fontaine, Bertrand, Thoumie, Philippe, Sharshar, Tarek, Alamowitch, Sonia, Apartis-Bourdieu, Emmanuelle, Peretti, Charles-Siegried, Ursu, Renata, Bourron, Kiyoka Kinugawa, Belmin, Joel, Pautas, Eric, Verny, Marc, Samson, Yves, Leder, Sara, Leger, Anne, Deltour, Sandrine, Baronnet, Flore, Touat, Mehdi, Sanson, Marc, Dehais, Caroline, Houillier, Caroline, Laigle-Donadey, Florence, Psimaras, Dimitri, Alenton, Agusti, Younan, Nadia, Villain, Nicolas, Del Mar Amador, Maria, Mezouar, Nicolas, Mangone, Graziella, Meneret, Aurelie, Hartmann, Andreas, Tarrano, Clement, Bendetowicz, David, Pradat, Pierre-François, Baulac, Michel, Pichit, Phintip, Chochon, Florence, Nguyen, An Hung, Porcher, Valerie, Demoule, Alexandre, Morawiec, Elise, Mayaux, Julien, Faure, Morgan, Ewenczyk, Claire, Coarelli, Giulia, Heinzmann, Anna, Masingue, Marion, Bassez, Guillaume, An, Isabelle, Worbe, Yulia, Lambrecq, Virginie, Debs, Rabab, Musat, Esteban Munoz, Lenglet, Timothee, Hanin, Aurelie, Chougar, Lydia, Shor, Nathalia, Pyatigorskaya, Nadya, Galanaud, Damien, Leclercq, Delphine, Cao, Albert, Marois, Clemence, Weiss, Nicolas, Le Guennec, Loic, Degos, Vincent, Jacquens, Alice, Similowski, Thomas, Morelot-Panzini, Capucine, Rotge, Jean-Yves, Saudreau, Bertrand, Sarni, Nassim, Girault, Nathalie, Leu, Smaranda, Thivard, Lionel, Mokhtari, Karima, Plu, Isabelle, Gonçalves, Bruno, Bottin, Laure, Haddad, Rebecca, Lafuente, Carmelo, Oasi, Christel, Megabarne, Bruno, Herve, Dominique, Salman, Haysam, Rametti-Lacroux, Armelle, Chalançon, Alize, Herve, Anais, Royer, Hugo, Beauzor, Florence, Maheo, Valentine, Laganot, Christelle, Minelli, Camille, Fekete, Aurelie, Grine, Abel, Biet, Marie, Hilab, Rania, Besnard, Aurore, Bouguerra, Meriem, Goudard, Gwen, Houairi, Saida, Al-Youssef, Saba, Pires, Christine, Oukhedouma, Anissa, Siuda-Krzywicka, Katarzyna, Malkinson, Tal Seidel, Agguini, Hanane, Said, Safia, Gales, Ana, Brochard, Vanessa, Bourron, Kiyoka, Nguyen, An, Musat, Esteban, Malkinson, Tal, 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), 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), Service de psychiatrie adulte [CHU Pitié-Salpêtière], CHU Pitié-Salpêtrière [AP-HP], Institut de la Mémoire et de la Maladie d'Alzheimer [Paris] (IM2A), Sorbonne Université (SU), Hôpital Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service des Pathologies du sommeil [CHU Pitié-Salpêtrière], Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], Service de Neuroradiologie [CHU Pitié-Salpêtrière], Service de Neurophysiologie [CHU Pitié-Salpêtrière], Service des Soins Intensifs [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Médecine Gériatrique [CHU Pitié-Salpêtrière], Service d'Activités cliniques [CHU Pitié-Salpêtrière], Service de médecine nucléaire [CHU Pitié-Salpétrière], Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Centre de Recherche en Myologie, and Service de gériatrie [CHU Pitié-Salpêtrière]

Subjects
Pediatrics, medicine.medical_specialty, encephalitis, Encephalopathy, Context (language use), law.invention, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, law, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Intensive care, medicine, Critical illness polyneuropathy, Biological Psychiatry, 030304 developmental biology, 0303 health sciences, business.industry, AcademicSubjects/SCI01870, COVID-19, medicine.disease, encephalopathy, Comorbidity, Intensive care unit, 3. Good health, Psychiatry and Mental health, Neurology, Observational study, Original Article, AcademicSubjects/MED00310, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], business, critical illness neuropathy, 030217 neurology & neurosurgery, Encephalitis
Abstract

A variety of neuropsychiatric complications has been described in association with Covid-19 infection. Large scale studies presenting a wider picture of these complications and their relative frequency are lacking. The objective of our study was to describe the spectrum of neurological and psychiatric complications in patients with Covid-19 seen in a multidisciplinary hospital center over six months. We conducted a retrospective, observational study on all patients showing neurological or psychiatric symptoms in the context of Covid-19 seen in the medical and university neuroscience department of Assistance Publique Hopitaux de Paris -Sorbonne University. We collected demographic data, comorbidities, symptoms and severity of Covid-19 infection, neurological and psychiatric symptoms, neurological and psychiatric examination data and, when available, results from CSF analysis, MRI, EEG and EMG. A total of 249 Covid-19 patients with a de novo neurological or psychiatric manifestation were included in the database and 245 were included in the final analyses. One-hundred fourteen patients (47%) were admitted to the intensive care unit and 10 (4%) died. The most frequent neuropsychiatric complications diagnosed were encephalopathy (43%), critical illness polyneuropathy and myopathy (26%), isolated psychiatric disturbance (18%), and cerebrovascular disorders (16%). No patients showed CSF evidence of SARS-CoV-2. Encephalopathy was associated with older age and higher risk of death. Critical illness neuromyopathy was associated with an extended stay in the intensive care unit. The majority of these neuropsychiatric complications could be imputed to critical illness, intensive care and systemic inflammation, which contrasts with the paucity of more direct SARS-CoV-2-related complications or post-infection disorders., Graphical Abstract Graphical Abstract

Published
2021

11. ATXN2 trinucleotide repeat length correlates with risk of ALS

Author

Sproviero, William, Shatunov, Aleksey, Stahl, Daniel, Shoai, Maryam, van Rheenen, Wouter, Jones, Ashley R., Al-Sarraj, Safa, Andersen, Peter M., Bonini, Nancy M., Conforti, Francesca L., Van Damme, Philip, Daoud, Hussein, Del Mar Amador, Maria, Fogh, Isabella, Forzan, Monica, Gaastra, Ben, Gellera, Cinzia, Gitler, Aaron D., Hardy, John, Fratta, Pietro, La Bella, Vincenzo, Le Ber, Isabelle, Van Langenhove, Tim, Lattante, Serena, Lee, Yi-Chung, Malaspina, Andrea, Meininger, Vincent, Millecamps, Stéphanie, Orrell, Richard, Rademakers, Rosa, Robberecht, Wim, Rouleau, Guy, Ross, Owen A., Salachas, Francois, Sidle, Katie, Smith, Bradley N., Soong, Bing-Wen, Sorarù, Gianni, Stevanin, Giovanni, Kabashi, Edor, Troakes, Claire, van Broeckhoven, Christine, Veldink, Jan H., van den Berg, Leonard H., Shaw, Christopher E., Powell, John F., and Al-Chalabi, Ammar

Published
2017
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12. Questioning the causality of HTT CAG-repeat expansions in FTD/ALS: Response to Dewan et al., short HTT CAG-repeat expansions cause Huntington's disease with frontotemporal dementia-like phenotype

Author

Thomas, Quentin, Coarelli, Giulia, Heinzmann, Anna, Le Ber, Isabelle, del Mar Amador, Maria, Durr, Alexandra, Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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 de la Mémoire et de la Maladie d'Alzheimer [CHU Pitié-Salpétriêre] (IM2A), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], and Gestionnaire, Hal Sorbonne Université

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, MESH: Humans, mental disorders, MESH: Huntingtin Protein, MESH: DNA Repeat Expansion, MESH: Frontotemporal Dementia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], MESH: Amyotrophic Lateral Sclerosis, nervous system diseases
Abstract

International audience; Questioning the causality of HTT CAG-repeat expansions in FTD/ALS You can't judge a frontal dementia by its cover Response to Dewan et al., short HTT CAG-repeat expansions cause Huntington's disease with frontotemporal dementia-like phenotype. Dear Madam, Sir, We read the article written by Dewan and collaborators entitled "Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis" published in Neuron (Dewan et al., 2020) with great interest. In this work, the authors report whole-genome analyses in 4 different large cohorts of i) 2,442 patients diagnosed with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS), ii) 2,599 patients diagnosed with Lewy body dementia (LBD), iii) 3,158 neurologically healthy individuals and iv) 3,674 individuals diagnosed with FTD/ALS from an additional independent "replication" cohort. They identified a total of 8 individuals carrying pathogenic HTT CAG-expansion repeats, 3 in the initial FTD/ALS cohort and 5 more in the independent "replication" cohort, but none in either the LBD cohort or among healthy controls. They showed that this overall 0.13% carrier rate (8/6,116) is 4.4 times higher than

Published
2021

13. Muscle cells of sporadic ALS patients secrete neurotoxic vesicles

Author

Gall, Laura Le, primary, Duddy, William J, additional, Martinat, Cecile, additional, Mariot, Virginie, additional, Connolly, Owen, additional, Milla, Vanessa, additional, Anakor, Ekene, additional, Ouandaogo, Zamalou G, additional, Millecamps, Stephanie, additional, Lainé, Jeanne, additional, Vijayakumar, Udaya Geetha, additional, Knoblach, Susan, additional, Raoul, Cedric, additional, Lucas, Olivier, additional, Loeffler, Jean Philippe, additional, Bede, Peter, additional, Behin, Anthony, additional, Blasco, Helene, additional, Bruneteau, Gaelle, additional, Del Mar Amador, Maria, additional, Devos, David, additional, Henriques, Alexandre, additional, Hesters, Adele, additional, Lacomblez, Lucette, additional, Laforet, Pascal, additional, Langlet, Timothee, additional, Leblanc, Pascal, additional, Le Forestier, Nadine, additional, Maisonobe, Thierry, additional, Meininger, Vincent, additional, Robelin, Laura, additional, Salachas, Francois, additional, Stojkovic, Tanya, additional, Querin, Giorgia, additional, Dumonceaux, Julie, additional, Browne, Gillian Butler, additional, González De Aguilar, Jose-Luis, additional, Duguez, Stephanie, additional, and Pradat, Pierre Francois, additional

Published
2021
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14. Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study

Author

Steinacker, Petra, primary, Feneberg, Emily, additional, Halbgebauer, Steffen, additional, Witzel, Simon, additional, Verde, Federico, additional, Oeckl, Patrick, additional, Van Damme, Philip, additional, Gaur, Nayana, additional, Gray, Elizabeth, additional, Grosskreutz, Julian, additional, Jardel, Claude G., additional, Kachanov, Mykyta, additional, Kuhle, Jens, additional, Lamari, Foudil, additional, Maceski, Aleksandra, additional, Del Mar Amador, Maria, additional, Mayer, Benjamin, additional, Morelli, Claudia, additional, Petri, Susanne, additional, Poesen, Koen, additional, Raaphorst, Joost, additional, Salachas, François, additional, Silani, Vincenzo, additional, Turner, Martin R., additional, Verbeek, Marcel M., additional, Volk, Alexander E., additional, Weishaupt, Jochen H., additional, Weydt, Patrick, additional, Ludolph, Albert C., additional, and Otto, Markus, additional

Published
2021
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15. Implanted Phrenic Stimulation Impairs Local Diaphragm Myofiber Reinnervation in Amyotrophic Lateral Sclerosis

Author

Guimarães-Costa, Raquel, primary, Niérat, Marie-Cécile, additional, Rivals, Isabelle, additional, Morélot-Panzini, Capucine, additional, Romero, Norma Beatriz, additional, Menegaux, Fabrice, additional, Salachas, François, additional, Gonzalez-Bermejo, Jésus, additional, Similowski, Thomas, additional, Bruneteau, Gaëlle, additional, del Mar Amador, Maria, additional, Antoine, Jean Christophe, additional, Arne-Bes, Marie Christine, additional, Attali, Valérie, additional, Beauvais, Katell, additional, Brunaud-Danel, Veronique, additional, Bruneteau, Gaelle, additional, Camdessanche, Jean-Philippe, additional, Camu, William, additional, Carluer, Laurence, additional, Cassereau, Julien, additional, Chapart, Maud, additional, Chenuel, Bruno, additional, Chereau, Nathalie, additional, Cintas, Pascal, additional, Clavelou, Pierre, additional, Corcia, Philippe, additional, Cornette, André, additional, Couratier, Philippe, additional, Court-Fortune, Isabelle, additional, Cuvelier, Antoine, additional, Delclaux, Christophe, additional, Desnuelle, Claude, additional, Di Maria, Sophie, additional, Fargeot, Catherine, additional, Fauroux, Brigitte, additional, Finet-Monnier, Armelle, additional, Fleury, Marie Celine, additional, Gaillat, Carmen, additional, Georges, Marjolaine, additional, Giroud, Maurice, additional, Gonzalez-Bermejo, Jesus, additional, Greil, Annick, additional, Guerrier, Muriel, additional, Guillaume, Nicolas, additional, Guy, Nathalie, additional, Hannequin, Didier, additional, Juillien, Valérie, additional, Juntas-Morales, Raul, additional, Kessler, Romain, additional, Kolev, Yvan, additional, Lagarde, Julien, additional, Lautrette, Geraldine, additional, Le Cam, Pierre, additional, LeForestier, Nadine, additional, Lemasson, Gwendal, additional, Lenglet, Thimothée, additional, Magro, Pascal, additional, Mallart, Anne, additional, Martinaud, Olivier, additional, Meininger, Vincent, additional, Meslier, Nicole, additional, Moirot, Pierre, additional, Morelot-Panzini, Capucine, additional, Nadjar, Yann, additional, Niel-Duriez, Myriam, additional, Nierat, Marie-Cecile, additional, Noullet, Severine, additional, Pageot, Nicolas, additional, Perez, Thierry, additional, Perrin, Christophe, additional, Pillet, Odile, additional, Pittion, Sophie, additional, Pouget, Jean, additional, Pradat, Pierre-François, additional, Prigent, Hélène, additional, Rabec, Claudio, additional, Ricard, Jean-Damien, additional, Romero, Norma, additional, Royer, Catherine, additional, Schaup, Barbara, additional, Sedkaoui, Kamila, additional, Soriani, Marie-Hélène, additional, Straus, Christian, additional, Tanguy, Marie-Laure, additional, Tranchant, Christine, additional, Vandenberghue, Nadia, additional, Vershueren, Annie, additional, Viader, Fausto, additional, and Wienalek-Bachelet, Anne-Cecile, additional

Published
2019
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16. The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study

Author

Querin, Giorgia, primary, El Mendili, Mohamed-Mounir, additional, Lenglet, Timothée, additional, Behin, Anthony, additional, Stojkovic, Tanya, additional, Salachas, François, additional, Devos, David, additional, Le Forestier, Nadine, additional, del Mar Amador, Maria, additional, Debs, Rabab, additional, Lacomblez, Lucette, additional, Meininger, Vincent, additional, Bruneteau, Gaëlle, additional, Cohen-Adad, Julien, additional, Lehéricy, Stéphane, additional, Laforêt, Pascal, additional, Blancho, Sophie, additional, Benali, Habib, additional, Catala, Martin, additional, Li, Menghan, additional, Marchand-Pauvert, Véronique, additional, Hogrel, Jean-Yves, additional, Bede, Peter, additional, and Pradat, Pierre-François, additional

Published
2019
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17. Targeted versus untargeted omics — the CAFSA story

Author

del Mar Amador, Maria, primary, Colsch, Benoit, additional, Lamari, Foudil, additional, Jardel, Claude, additional, Ichou, Farid, additional, Rastetter, Agnès, additional, Sedel, Frédéric, additional, Jourdan, Fabien, additional, Frainay, Clément, additional, Wevers, Ronald A., additional, Roze, Emmanuel, additional, Depienne, Christel, additional, Junot, Christophe, additional, and Mochel, Fanny, additional

Published
2018
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18. Pure cerebellar ataxia linked to large C9orf72 repeat expansion

Author

Corcia, Philippe, primary, Vourc’h, Patrick, additional, Guennoc, Anne-Marie, additional, Del Mar Amador, Maria, additional, Blasco, Hélène, additional, Andres, Christian, additional, Couratier, Philippe, additional, Gordon, Paul H., additional, and Meininger, Vincent, additional

Published
2015
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19. Multicenter evaluation of neurofilaments in early symptom onset amyotrophic lateral sclerosis.

Author

Feneberg, Emily, Oeckl, Patrick, Steinacker, Petra, Verde, Federico, Barro, Christian, Van Damme, Philip, Gray, Elizabeth, Grosskreutz, Julian, Jardel, Claude, Kuhle, Jens, Koerner, Sonja, Lamari, Foudil, del Mar Amador, Maria, Mayer, Benjamin, Morelli, Claudia, Muckova, Petra, Petri, Susanne, Poesen, Koen, Raaphorst, Joost, and Salachas, François

Published
2018
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20. Reversal learning reveals cognitive deficits and altered prediction error encoding in the ventral striatum in Huntington's disease.

Author

Nickchen, Katharina, Boehme, Rebecca, Mar Amador, Maria, Hälbig, Thomas, Dehnicke, Katharina, Panneck, Patricia, Behr, Joachim, Prass, Konstantin, Heinz, Andreas, Deserno, Lorenz, Schlagenhauf, Florian, Priller, Josef, Del Mar Amador, Maria, and Hälbig, Thomas D

Abstract

Huntington's disease (HD) is an autosomal dominant neurodegenerative condition characterized by a triad of movement disorder, neuropsychiatric symptoms and cognitive deficits. The striatum is particularly vulnerable to the effects of mutant huntingtin, and cell loss can already be found in presymptomatic stages. Since the striatum is well known for its role in reinforcement learning, we hypothesized to find altered behavioral and neural responses in HD patients in a probabilistic reinforcement learning task performed during functional magnetic resonance imaging. We studied 24 HD patients without central nervous system (CNS)-active medication and 25 healthy controls. Twenty HD patients and 24 healthy controls were able to complete the task. Computational modeling was used to calculate prediction error values and estimate individual parameters. We observed that gray matter density and prediction error signals during the learning task were related to disease stage. HD patients in advanced disease stages appear to use a less complex strategy in the reversal learning task. In contrast, HD patients in early disease stages show intact encoding of learning signals in the degenerating left ventral striatum. This effect appears to be lost with disease progression. [ABSTRACT FROM AUTHOR]

Published
2017
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22. Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.

Author

Degos, Bertrand, Nadjar, Yann, del Mar Amador, Maria, Lamari, Foudil, Sedel, Frédéric, Roze, Emmanuel, Couvert, Philippe, Mochel, Fanny, and Amador, Maria Del Mar

Subjects
CEREBROTENDINOUS xanthomatosis, GENETIC disorders, PEDIATRICIANS, CATARACT diagnosis, INFANT diseases
Abstract

Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma cholestanol. We wished to delineate the natural history of the most common neurological and non-neurological symptoms in thirteen patients with CTX. Diarrhea almost always developed within the first year of life. Cataract and school difficulties usually occurred between 5 and 15 years of age preceding by years the onset of motor or psychiatric symptoms. The median age at diagnosis was 24.5 years old. It appears critical to raise awareness about CTX among paediatricians in order to initiate treatment before irreversible damage occurs. [ABSTRACT FROM AUTHOR]

Published
2016
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23. Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

Author

Verdura, Edgard, Hervé, Dominique, Scharrer, Eva, del Mar Amador, Maria, Guyant-Maréchal, Lucie, Philippi, Anne, Corlobé, Astrid, Bergametti, Francoise, Gazal, Steven, Prieto-Morin, Carol, Beaufort, Nathalie, Le Bail, Benoit, Viakhireva, Irina, Dichgans, Martin, Chabriat, Hugues, Haffner, Christof, Tournier-Lasserve, Elisabeth, Amador, Maria Del Mar, and Bergametti, Françoise

Abstract

Cerebral small vessel disease represents a heterogeneous group of disorders leading to stroke and cognitive impairment. While most small vessel diseases appear sporadic and related to age and hypertension, several early-onset monogenic forms have also been reported. However, only a minority of patients with familial small vessel disease carry mutations in one of known small vessel disease genes. We used whole exome sequencing to identify candidate genes in an autosomal dominant small vessel disease family in which known small vessel disease genes had been excluded, and subsequently screened all candidate genes in 201 unrelated probands with a familial small vessel disease of unknown aetiology, using high throughput multiplex polymerase chain reaction and next generation sequencing. A heterozygous HTRA1 variant (R166L), absent from 1000 Genomes and Exome Variant Server databases and predicted to be deleterious by in silico tools, was identified in all affected members of the index family. Ten probands of 201 additional unrelated and affected probands (4.97%) harboured a heterozygous HTRA1 mutation predicted to be damaging. There was a highly significant difference in the number of likely deleterious variants in cases compared to controls (P = 4.2 × 10(-6); odds ratio = 15.4; 95% confidence interval = 4.9-45.5), strongly suggesting causality. Seven of these variants were located within or close to the HTRA1 protease domain, three were in the N-terminal domain of unknown function and one in the C-terminal PDZ domain. In vitro activity analysis of HTRA1 mutants demonstrated a loss of function effect. Clinical features of this autosomal dominant small vessel disease differ from those of CARASIL and CADASIL by a later age of onset and the absence of the typical extraneurological features of CARASIL. They are similar to those of sporadic small vessel disease, except for their familial nature. Our data demonstrate that heterozygous HTRA1 mutations are an important cause of familial small vessel disease, and that screening of HTRA1 should be considered in all patients with a hereditary small vessel disease of unknown aetiology. [ABSTRACT FROM AUTHOR]

Published
2015
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24. Involvement of peripheral III nerve in multiple sclerosis patient: Report of a new case and discussion of the underlying mechanism.

Author

Shor, Natalia, del Mar Amador, Maria, Dormont, Didier, Lubetzki, Catherine, and Bertrand, Anne

Subjects
*PERIPHERAL nervous system, *MULTIPLE sclerosis, *CRANIAL nerve diseases, *DEMYELINATION, *PERIPHERAL neuropathy, *MAGNETIC resonance imaging, *PATIENTS
Abstract

Multiple sclerosis (MS) is a chronic disorder that affects the central nervous system myelin. However, a few radiological cases have documented an involvement of peripheral cranial nerves, within the subarachnoid space, in MS patients. We report the case of a 36-year-old female with a history of relapsing-remitting (RR) MS who consulted for a subacute complete paralysis of the right III nerve. Magnetic resonance imaging (MRI) examination showed enhancement and thickening of the cisternal right III nerve, in continuity with a linear, mesencephalic, acute demyelinating lesion. Radiological involvement of the cisternal part of III nerve has been reported only once in MS patients. Radiological involvement of the cisternal part of V nerve occurs more frequently, in almost 3% of MS patients. In both situations, the presence of a central demyelinating lesion, in continuity with the enhancement of the peripheral nerve, suggests that peripheral nerve damage is a secondary process, rather than a primary target of demyelination. [ABSTRACT FROM AUTHOR]

Published
2017
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25. Pure cerebellar ataxia linked to large C9orf72 repeat expansion.

Author

Corcia, Philippe, Vourc'h, Patrick, Guennoc, Anne-Marie, Del Mar Amador, Maria, Blasco, Hélène, Andres, Christian, Couratier, Philippe, Gordon, Paul H., and Meininger, Vincent

Subjects
CEREBELLAR ataxia, CEREBELLUM diseases, MEDICAL records, HEALTH of patients, PUBLIC health, DIAGNOSIS
Abstract

The article presents a case study of a 36-year-old female diagnosed with pure cerebellar ataxia that is associated with C9orf72 repeat expansion. Topics discussed include health conditions of the patient, her medical history and examinations, her cerebellar atrophy, and the development of cerebellar ataxia.

Published
2016
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