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2. Imbalanced motivated behaviors according to motor sign asymmetry in drug-naïve Parkinson’s disease

Author

Béreau, Matthieu, Castrioto, Anna, Servant, Mathieu, Lhommée, Eugénie, Desmarets, Maxime, Bichon, Amélie, Pélissier, Pierre, Schmitt, Emmanuelle, Klinger, Hélène, Longato, Nadine, Phillipps, Clélie, Wirth, Thomas, Fraix, Valérie, Benatru, Isabelle, Durif, Franck, Azulay, Jean-Philippe, Moro, Elena, Broussolle, Emmanuel, Thobois, Stéphane, Tranchant, Christine, Krack, Paul, and Anheim, Mathieu

Published
2023
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3. Immediate-release/extended-release amantadine (OS320) to treat Parkinson's disease with levodopa-induced dyskinesia: Analysis of the randomized, controlled ALLAY-LID studies

Author

Azulay, Jean-Philippe, Balaguer, Ernest, Bhatia, Perminder, Bodis-Wollner, Ivan, Brownstone, Paul, Boulloche, Nicolas, Calegan, Gerald J., II, Castelnovo, Giovanni, Chou, Kelvin L., Corvol, Jean-Christophe, Danisi, Fabio, Defebvre, Luc, Desojo, Lydia Vela, Durif, Franck, Ehret, Reinhard, Evans, Bradley K., Forchetti, Concetta, Friedman, Joseph H., Fogel, Wolfgang, Garniga, Matilde Calopa, Gil, Ramon A., Ginsberg, Paul L., Glasberg, Mark R., Griffith, Alida, Groves, Jeffrey W., Gudesblatt, Mark, Hermanowicz, Neal, Herrera, Maria A., Houeto, Jean-Luc, Hutchman, Robert M., Isaacson, Stuart H., Jagadeesan, Singar, Jog, Mandar, Keegan, Andrew, Klostermann, Fabian, Krystkowiak, Pierre, Kulisevsky Bojarsky, Jaime, Kumar, Rajeev, Lacey, Dennis, Lasker, Bruce, LaVaccare, John, Lavallee, Michelle M., Piudo, Maria Rosario Luquin, Mahler, Andreas, Domenech, Maria José Martí, Martinez Castrillo, Juan Carlos, Mate, Laszlo J., Mendis, Tilak, Metman, Leonard Verhagen, Muhlack, Siegfried Martin, Müller, Thomas, Park, Ariane, Patton, James, Peckham, Elizabeth, Grandas Pérez, Francisco, Rabin, Marcie, Rascol, Olivier, Reifschneider, Gerd, Remy, Philippe, Rivera, Pablo Mir, Schwarz, Johannes, Roullet-Solignac, Isabelle, Salazar, Gabriel, Sergay, Stephen M., Sherman, Scott, Shubin, Richard, Spikol, Lorraine, Steigerwald, Frank, Tönges, Lars, Truong, Daniel D., Ugarte, Antonio, Vivancos Matellano, Francisco, Witte, Arnold, Zesiewicz, Theresa, Zauber, Sarah Elizabeth, deVries, Tina, Jaros, Mark, Quartel, Adrian, and Jacobs, David

Published
2022
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4. Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions.

Author

Calezis, Claudia, Bonello‐Palot, Nathalie, Verschueren, Annie, Azulay, Jean‐Philippe, Fortanier, Etienne, Grapperon, Aude‐Marie, Kouton, Ludivine, Gallard, Julien, Salort‐Campana, Emmanuelle, Attarian, Shahram, and Delmont, Emilien

Abstract

Introduction/Aims: Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is caused by RFC1 expansions. Sensory neuronopathy, polyneuropathy, and involvement of motor, autonomic, and cranial nerves have all been described with RFC1 expansions. We aimed to describe the electrodiagnostic features of patients with RFC1 expansions through multimodal electrophysiological investigations. Methods: Thirty‐five patients, with a median age of 70 years, and pathologic biallelic repeat expansions in the RFC1 gene, were tested for motor and sensory nerve conduction, flexor carpi radialis (FCR) and soleus H‐reflexes, blink reflex, electrochemical skin conductance, sympathetic skin response (SSR), and heart rate variability with deep breathing (HRV). Results: Only 16 patients (46%) exhibited the full clinical CANVAS spectrum. Distal motor amplitudes were normal in 30 patients and reduced in the legs of five patients. Distal sensory amplitudes were bilaterally reduced in a non‐length dependent manner in 30 patients. Conduction velocities were normal. Soleus H‐reflexes were abnormal in 19/20 patients of whom seven had preserved Achilles reflexes. FCR H‐reflexes were absent or decreased in amplitude in 13/14 patients. Blink reflex was abnormal in 4/19 patients: R1 latencies for two patients and R2 latencies for two others. Fourteen out of 31 patients (45%) had abnormal results in at least one autonomic nervous system test, either for ESC (12/31), SSR (5/14), or HRV (6/19). Discussion: Less than half of the patients with RFC1 expansions exhibited the full clinical CANVAS spectrum, but nearly all exhibited typical sensory neuronopathy and abnormal H‐reflexes. Involvement of small nerve fibers and brainstem neurons was less common. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

Author

Méreaux, Jean-Loup, Firanescu, Cristina, Coarelli, Giulia, Kvarnung, Malin, Rodrigues, Rita, Pegoraro, Elena, Tazir, Meriem, Taithe, Frédéric, Valter, Rémi, Huin, Vincent, Lidström, Kristina, Banneau, Guillaume, Morais, Sara, Parodi, Livia, Coutelier, Marie, Papin, Mélanie, Svenningsson, Per, Azulay, Jean-Philippe, Alonso, Isabel, Nilsson, Daniel, Brice, Alexis, Le Guern, Eric, Press, Rayomand, Vazza, Giovanni, Loureiro, José Leal, Goizet, Cyril, Durr, Alexandra, Paucar, Martin, and Stevanin, Giovanni

Published
2021
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8. Magnetic Resonance Imaging Measures to Track Atrophy Progression in Progressive Supranuclear Palsy in Clinical Trials.

Author

Quattrone, Andrea, Franzmeier, Nicolai, Huppertz, Hans‐Jürgen, Klietz, Martin, Roemer, Sebastian N., Williams, David, Lafontaine, Anne Louise, Marras, Connie, Jog, Mandar, Panisset, Michael, Lang, Anthony, Parker, Lesley, Stewart, Alistair J., Corvol, Jean‐Christophe, Azulay, Jean‐Philippe, Couratier, Philippe, Mollenhauer, Brit, Lorenzl, Stefan, Ludolph, Albert, and Benecke, Reiner

Abstract

Background: Several magnetic resonance imaging (MRI) measures have been suggested as progression biomarkers in progressive supranuclear palsy (PSP), and some PSP staging systems have been recently proposed. Objective: Comparing structural MRI measures and staging systems in tracking atrophy progression in PSP and estimating the sample size to use them as endpoints in clinical trials. Methods: Progressive supranuclear palsy‐Richardson's syndrome (PSP‐RS) patients with one‐year‐follow‐up longitudinal brain MRI were selected from the placebo arms of international trials (NCT03068468, NCT01110720, NCT01049399) and the DescribePSP cohort. The discovery cohort included patients from the NCT03068468 trial; the validation cohort included patients from other sources. Multisite age‐matched healthy controls (HC) were included for comparison. Several MRI measures were compared: automated atlas‐based volumetry (44 regions), automated planimetric measures of brainstem regions, and four previously described staging systems, applied to volumetric data. Results: Of 508 participants, 226 PSP patients including discovery (n = 121) and validation (n = 105) cohorts, and 251 HC were included. In PSP patients, the annualized percentage change of brainstem and midbrain volume, and a combined index including midbrain, frontal lobe, and third ventricle volume change, were the progression biomarkers with the highest effect size in both cohorts (discovery: >1.6; validation cohort: >1.3). These measures required the lowest sample sizes (n < 100) to detect 30% atrophy progression, compared with other volumetric/planimetric measures and staging systems. Conclusions: This evidence may inform the selection of imaging endpoints to assess the treatment efficacy in reducing brain atrophy rate in PSP clinical trials, with automated atlas‐based volumetry requiring smaller sample size than staging systems and planimetry to observe significant treatment effects. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Molecular Imaging in CANVAS: A Contribution for Differential Diagnosis?

Author

Horowitz, Tatiana, Guedj, Eric, Eusebio, Alexandre, Fluchère, Frédérique, Azulay, Jean‐Philippe, Delmont, Emilien, and Grimaldi, Stephan

Subjects
MULTIPLE system atrophy, CEREBELLUM degeneration, SINGLE-photon emission computed tomography, POSITRON emission tomography, DIFFERENTIAL diagnosis
Abstract

Background: Phenotypes of CANVAS are increasingly diversified, including bradykinesia and dysautonomia, so that its primary differential diagnoses are multiple system atrophy‐cerebellar type (MSA‐c), and spinocerebellar ataxia type 3 (SCA3). This case series aims to highlight key molecular imaging findings in CANVAS. Cases: We report a case series of six patients with CANVAS who underwent nuclear medicine examinations in our center and 13 patients from the literature. These include 18F‐FDG brain positron emission tomography (PET), single photon emission computed tomography (SPECT) of dopamine transporter (DaT) activity, and 123I‐MIBG cardiac scintigraphy of noradrenergic transmission. Conclusions: In CANVAS, 18F‐FDG brain PET mainly shows cerebellar hypometabolism, with preserved brainstem and striatum metabolism, contrasting with SCA3 and MSA‐c. Dopaminergic denervation on scintigraphy seems to be associated with clinical parkinsonism, ranging from normal to severely impaired DaT SPECT. Additionally, 123I‐MIBG cardiac scintigraphy might show denervation in CANVAS, similar to SCA3, but not in most MSA‐c patients. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Naftazone in advanced Parkinson's disease: An acute L-DOPA challenge randomized controlled trial

Author

Corvol, Jean-Christophe, Durif, Franck, Meissner, Wassilios G., Azulay, Jean-Philippe, Haddad, Raphaël, Guimarães-Costa, Raquel, Mariani, Louise-Laure, Cormier-Dequaire, Florence, Thalamas, Claire, Galitzky, Monique, Boraud, Thomas, Debilly, Bérengère, Eusebio, Alexandre, Houot, Marion, Dellapina, Estelle, Chaigneau, Véronique, Salis, Alexandrine, Lacomblez, Lucette, Benel, Laurent, and Rascol, Olivier

Published
2019
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15. Severity dependent distribution of impairments in PSP and CBS: Interactive visualizations

Author

Williams, David, Lafontaine, Anne Louise, Marras, Connie, Jog, Mandar, Panisset, Michael, Lang, Anthony, Parker, Lesley, Stewart, Alistair J., Corvol, Jean-Christophe, Azulay, Jean-Philippe, Couratier, Philippe, Mollenhauer, Brit, Lorenzl, Stefan, Ludolph, Albert, Benecke, Reiner, Hoglinger, Gunter, Lipp, Axel, Reichmann, Heinz, Woitalla, Dirk, Chan, Dennis, Zermansky, Adam, Burn, David, Lees, Andrew, Gozes, Illana, Boxer, Adam, Miller, Bruce L., Lobach, Iryna V., Roberson, Erik, Honig, Lawrence, Zamrini, Edward, Pahwa, Rajesh, Bordelon, Yvette, Driver-Dunkley, Erika, Lessig, Stephanie, Lew, Mark, Womack, Kyle, Boeve, Brad, Ferrara, Joseph, Hillis, Argyle, Kaufer, Daniel, Kumar, Rajeev, Xie, Tao, Gunzler, Steven, Zesiewicz, Theresa, Dayalu, Praveen, Golbe, Lawrence, Grossman, Murray, Jankovic, Joseph, McGinnis, Scott, Santiago, Anthony, Tuite, Paul, Isaacson, Stuart, Leegwater-Kim, Julie, Litvan, Irene, Knopman, David S., Schneider, Lon S., Doody, Rachelle S., Golbe, Lawrence I., Roberson, Erik D., Koestler, Mary, Jack, Clifford R., Jr., Van Deerlin, Viviana, Randolph, Christopher, Whitaker, Steve, Hirman, Joe, Gold, Michael, Morimoto, Bruce H., Nuebling G, Georg, Hensler, Mira, Paul, Sabine, Zwergal, Andreas, Heuer, Hilary W., Tartaglia, Maria C., McGinnis, Scott M., Dickerson, Bradford C., Kornak, John, Schuff, Norbert, Rabinovici, Gil D., Rosen, Howard J., Boxer, Adam L., Gómez, J.C., Tijero, B., Berganzo, K., Garc'ıa de Yebenes, J., Lopez Sendón, J.L., Garcia, G., Tolosa, E., Buongiorno, M.T., Bargalló, N., Burguera, J.A., Martinez, I., Ruiz-Mart'ınez, J., Narrativel, I., Vivancos, F., Ybot, I., Aguilar, M., Quilez, P., Boada, M., Lafuente, A., Hernandez, I., López-Lozano, J.J., Mata, M., Kupsch, A., Lipp, A., Ebersbach, G., Schmidt, T., Hahn, K., Höglinger, G., Höllerhage, M., Oertel, W.H., Respondek, G., Stamelou, M., Reichmann, H., Wolz, M., Schneider, C., Klingelhöfer, L., Berg, D., Maetzler, W., Srulijes, K.K., Ludolph, A., Kassubek, J., Steiger, M., Tyler, K., Burn, D.J., Morris, L., Lees, A., Ling, H., Hauser, R., McClain, T., Truong, D., Jenkins, S., Litvan, I., Houghton, D., Ferrara, J., Bordelon, Y., Gratiano, A., Golbe, L., Mark, M., Uitti, R., Ven Gerpen, J., Brittain, Claire, McCarthy, Andrew, Irizarry, Michael C., McDermott, Dana, Biglan, Kevin, Höglinger, Günter U., and del Ser, Teodoro

Published
2019
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18. Behavioural outcomes of subthalamic stimulation and medical therapy versus medical therapy alone for Parkinson's disease with early motor complications (EARLYSTIM trial): secondary analysis of an open-label randomised trial

Author

Negovanska, Velina, Welter, Marie-Laure, Corvol, Jean-Christophe, Agid, Yves, Navarro, Soledad, Meier, Niklaus, Hartmann, Andreas, Hesekamp, Helke, Cornu, Philippe, Möller, Bettina, Nebel, Adelheid, Raethjen, Jan, Knudsen, Karina, Volkmann, Jens, Falk, Daniela, Paschen, Steffen, Meister, Ingo, Kuhn, Jens, Donner, Kerstin, Kessler, Josef, Barbe, Michael, Fink, Gereon, Maarouf, Mohammad, Kühn, Andrea, Müller, Bianca, Faust, Katharina, Gruber, Doreen, Schneider, Gerd-H., Seigneuret, Eric, Pollak, Pierre, Fraix, Valerie, Kistner, Andrea, Rascol, Olivier, Arbus, Christophe, Danet, Lola, Chaynes, Patrick, Groiss, Stefan J., Hartmann, Christian, Südmeyer, Martin, Partowinia-Peters, Mahnaz, Vesper, Jan, Ledily, Severine, Damier, Philippe, Raoul, Sylvie, Trenkwalder, Claudia, Richter-Dreske, Wenke, Wächter, Tobias, Weiss, Daniel, Eusebio, Alexandro, Azulay, Jean Philippe, Polo, Gustavo, Pinto, Serge, Levin, Johannes, Dornier, Stephanie, Pene, Fredy, Hourton, Delphine, Quintin, Mathieu, Hoffart-Jourdain, Cecile, Brocvielle, Helene, Balthasar, Kerstin, Stein, Meryem, Harnisch, Susanne, Reuss, Alexander, Aminossadati, Behnaz, Nasemann, Christian, Oertel, Wolfgang, Bataille, Benoit, Hellwig, Dieter, Gharabaghi, Alireza, Amtage, Florian, Mertens, Patrick, Kloss, Manja, Post, Bart, Speelman, Hans, Lhommée, Eugénie, Wojtecki, Lars, Czernecki, Virginie, Witt, Karsten, Maier, Franziska, Tonder, Lisa, Timmermann, Lars, Hälbig, Thomas D, Pineau, Fanny, Durif, Franck, Witjas, Tatiana, Pinsker, Marcus, Mehdorn, Maximilian, Sixel-Döring, Friederike, Kupsch, Andreas, Krüger, Rejko, Elben, Saskia, Chabardès, Stephan, Thobois, Stéphane, Brefel-Courbon, Christine, Ory-Magne, Fabienne, Regis, Jean-Marie, Maltête, David, Sauvaget, Anne, Rau, Jörn, Schnitzler, Alfons, Schüpbach, Michael, Schade-Brittinger, Carmen, Deuschl, Gunther, Houeto, Jean-Luc, and Krack, Paul

Published
2018
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20. Motivational and cognitive predictors of apathy after subthalamic nucleus stimulation in Parkinson's disease.

Author

Béreau, Matthieu, Kibleur, Astrid, Servant, Mathieu, Clément, Gautier, Dujardin, Kathy, Rolland, Anne-Sophie, Wirth, Thomas, Lagha-Boukbiza, Ouhaid, Voirin, Jimmy, Santin, Marie des Neiges, Hainque, Elodie, Grabli, David, Comte, Alexandre, Drapier, Sophie, Durif, Franck, Marques, Ana, Eusebio, Alexandre, Azulay, Jean-Philippe, Giordana, Caroline, and Houeto, Jean-Luc

Subjects
APATHY, SUBTHALAMIC nucleus, PARKINSON'S disease, DEEP brain stimulation, EXECUTIVE function, EPISODIC memory, MOTIVATION (Psychology)
Abstract

Postoperative apathy is a frequent symptom in Parkinson's disease patients who have undergone bilateral deep brain stimulation of the subthalamic nucleus. Two main hypotheses for postoperative apathy have been suggested: (i) dopaminergic withdrawal syndrome relative to postoperative dopaminergic drug tapering; and (ii) direct effect of chronic stimulation of the subthalamic nucleus. The primary objective of our study was to describe preoperative and 1-year postoperative apathy in Parkinson's disease patients who underwent chronic bilateral deep brain stimulation of the subthalamic nucleus. We also aimed to identify factors associated with 1-year postoperative apathy considering: (i) preoperative clinical phenotype; (ii) dopaminergic drug management; and (iii) volume of tissue activated within the subthalamic nucleus and the surrounding structures. We investigated a prospective clinical cohort of 367 patients before and 1 year after chronic bilateral deep brain stimulation of the subthalamic nucleus. We assessed apathy using the Lille Apathy Rating Scale and carried out a systematic evaluation of motor, cognitive and behavioural signs. We modelled the volume of tissue activated in 161 patients using the Lead-DBS toolbox and analysed overlaps within motor, cognitive and limbic parts of the subthalamic nucleus. Of the 367 patients, 94 (25.6%) exhibited 1-year postoperative apathy: 67 (18.2%) with ' de novo apathy' and 27 (7.4%) with 'sustained apathy'. We observed disappearance of preoperative apathy in 22 (6.0%) patients, who were classified as having 'reversed apathy'. Lastly, 251 (68.4%) patients had neither preoperative nor postoperative apathy and were classified as having 'no apathy'. We identified preoperative apathy score [odds ratio (OR) 1.16; 95% confidence interval (CI) 1.10, 1.22; P < 0.001], preoperative episodic memory free recall score (OR 0.93; 95% CI 0.88, 0.97; P = 0.003) and 1-year postoperative motor responsiveness (OR 0.98; 95% CI 0.96, 0.99; P = 0.009) as the main factors associated with postoperative apathy. We showed that neither dopaminergic dose reduction nor subthalamic stimulation were associated with postoperative apathy. Patients with 'sustained apathy' had poorer preoperative fronto-striatal cognitive status and a higher preoperative action initiation apathy subscore. In these patients, apathy score and cognitive status worsened postoperatively despite significantly lower reduction in dopamine agonists (P = 0.023), suggesting cognitive dopa-resistant apathy. Patients with 'reversed apathy' benefited from the psychostimulant effect of chronic stimulation of the limbic part of the left subthalamic nucleus (P = 0.043), suggesting motivational apathy. Our results highlight the need for careful preoperative assessment of motivational and cognitive components of apathy as well as executive functions in order to better prevent or manage postoperative apathy. [ABSTRACT FROM AUTHOR]

Published
2024
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21. A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.

Author

Serag, Mounir, Plutino, Morgane, Charles, Perrine, Azulay, Jean-Philippe, Chaussenot, Annabelle, Paquis-Flucklinger, Véronique, Ait-El-Mkadem Saadi, Samira, and Rouzier, Cécile

Subjects
PAN-genome, COMPARATIVE genomic hybridization, MITOCHONDRIAL pathology, MITOCHONDRIA, CEREBELLAR ataxia, MITOCHONDRIAL DNA
Abstract

Mitochondrial disorders are characterized by a huge clinical, biochemical, and genetic heterogeneity, which poses significant diagnostic challenges. Several studies report that more than 50% of patients with suspected mitochondrial disease could have a non-mitochondrial disorder. Thus, only the identification of the causative pathogenic variant can confirm the diagnosis. Herein, we describe the diagnostic journey of a family suspected of having a mitochondrial disorder who were referred to our Genetics Department. The proband presented with the association of cerebellar ataxia, COX-negative fibers on muscle histology, and mtDNA deletions. Whole exome sequencing (WES), supplemented by a high-resolution array, comparative genomic hybridization (array-CGH), allowed us to identify two pathogenic variants in the non-mitochondrial SYNE1 gene. The proband and her affected sister were found to be compound heterozygous for a known nonsense variant (c.13258C>T, p.(Arg4420Ter)), and a large intragenic deletion that was predicted to result in a loss of function. To our knowledge, this is the first report of a large intragenic deletion of SYNE1 in patients with cerebellar ataxia (ARCA1). This report highlights the interest in a pangenomic approach to identify the genetic basis in heterogeneous neuromuscular patients with the possible cause of mitochondrial disease. Moreover, even rare copy number variations should be considered in patients with a phenotype suggestive of SYNE1 deficiency. [ABSTRACT FROM AUTHOR]

Published
2023
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22. Author Correction: Safety and efficacy of anti-tau monoclonal antibody gosuranemab in progressive supranuclear palsy: a phase 2, randomized, placebo-controlled trial

Author

Dam, Tien, Boxer, Adam L, Yang, Lili, Shill, Holly, Shprecher, David, Stamelou, Maria, Steiger, Malcolm, Takahashi, Yuji, Takigawa, Hiroshi, Tartaglia, Carmela, Toenges, Lars, Truong, Daniel, Tse, Winona, Tidemann-Miller, Beth, Tuite, Paul, Volc, Dieter, Wills, Anne-Marie A, Woitalla, Dirk, Xie, Tao, Yuasa, Tatsuhiko, Zauber, Sarah Elizabeth, Zesiewicz, Theresa, Kupferman, Joseph, Harper, Kristine, Kamisoglu, Kubra, Wald, Michael J, Graham, Danielle L, Gedney, Liz, O'Gorman, John, Haeberlein, Samantha Budd, Golbe, Lawrence I, Group, PASSPORT Study, Aiba, Ikuko, Antonini, Angelo, Apetauerova, Diana, Azulay, Jean-Philippe, Martinez, Ernest Balaguer, Bang, Jee, Barone, Paolo, Barrett, Matthew, Bega, Danny, Höglinger, Günter, Berg, Daniela, Corrales, Koldo Berganzo, Bordelon, Yvette, Brandt, Moritz, Brueggemann, Norbert, Castelnovo, Giovanni, Ceravolo, Roberto, Chuang, Rosalind, Chung, Sun Ju, Morris, Huw R, Church, Alistair, Corvol, Jean-Christophe, Cudia, Paola, Dale, Marian, Defebvre, Luc, Drapier, Sophie, Driver-Dunckley, Erika D, Ebersbach, Georg, Eggert, Karla M, Ellenbogen, Aaron, Litvan, Irene, Eusebio, Alexandre, Evans, Andrew H, Fedorova, Natalia, Finger, Elizabeth, Foubert-Samier, Alexandra, Ghosh, Boyd, Golbe, Lawrence, Perez, Francisco Grandas, Grossman, Murray, Hall, Deborah, Lang, Anthony E, Hamada, Kyoko, Hasegawa, Kazuko, Hoeglinger, Guenter, Honig, Lawrence, Houghton, David, Huang, Xuemei, Isaacson, Stuart, Koh, SeongBeom, Bojarski, Jaime Kulisevsky, Leigh, Peter Nigel, Lozano, Juan Jose Lopez, Moreno, Jose Luis Lopez-Sendon, Ludolph, Albert Christian, Piudo, Ma Rosario Luquin, Torres, Irene Martinez, McFarland, Nikolaus, Meissner, Wassilios, Mestre, Tiago, Rivera, Pablo Mir, Molho, Eric, Mollenhauer, Britt, Murata, Miho, Obi, Tomokazu, Magne, Fabienne Ory, O'Suilleabhain, Padraig, Pahwa, Rajesh, Pantelyat, Alexander, Grundman, Michael, Pavese, Nicola, Pokhabov, Dmitry, Prudlo, Johannes, Rodriguez-Porcel, Federico, Rowe, James, Savitt, Joseph, Schnitzler, Alfons, Schulz, Joerg B, Seppi, Klaus, and Shah, Binit

Subjects
ddc:610, General Medicine, General Biochemistry, Genetics and Molecular Biology
Published
2022

26. Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice

Author

Renaud, Mathilde, Perriard, Julien, Coudray, Sarah, Sévin-Allouet, Mathieu, Marcel, Christophe, Meissner, Wassilios G., Chanson, Jean-Baptiste, Collongues, Nicolas, Philippi, Nathalie, Gebus, Odile, Quenardelle, Véronique, Castrioto, Anna, Krack, Paul, N’Guyen, Karine, Lefebvre, François, Echaniz-Laguna, Andoni, Azulay, Jean-Philippe, Meyer, Nicolas, Labauge, Pierre, Tranchant, Christine, and Anheim, Mathieu

Published
2015
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27. Methylphenidate for gait hypokinesia and freezing in patients with Parkinson's disease undergoing subthalamic stimulation: a multicentre, parallel, randomised, placebo-controlled trial

Author

Moreau, Caroline, Delval, Arnaud, Defebvre, Luc, Dujardin, Kathy, Duhamel, Alain, Petyt, Gregory, Vuillaume, Isabelle, Corvol, Jean-Christophe, Brefel-Courbon, Christine, Ory-Magne, Fabienne, Guehl, Dominique, Eusebio, Alexandre, Fraix, Valérie, Saulnier, Pierre-Jean, Lagha-Boukbiza, Ouhaid, Durif, Frank, Faighel, Mirela, Giordana, Caroline, Drapier, Sophie, Maltête, David, Tranchant, Christine, Houeto, Jean-Luc, Debû, Bettina, Sablonniere, Bernard, Azulay, Jean-Philippe, Tison, François, Rascol, Olivier, Vidailhet, Marie, Destée, Alain, Bloem, Bastiaan R, Bordet, Régis, and Devos, David

Published
2012
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28. Trial of Prasinezumab in Early-Stage Parkinson's Disease

Author

Pagano, Gennaro, Taylor, Kirsten I, Mollenhauer, Brit, López-Manzanares, Lydia, Russell, David S, Boyd, James T, Nicholas, Anthony P, Luquin, María R, Hauser, Robert A, Gasser, Thomas, Poewe, Werner, Ricci, Benedicte, Anzures-Cabrera, Judith, Boulay, Anne, Vogt, Annamarie, Boess, Frank G, Dukart, Juergen, D'Urso, Giulia, Finch, Rebecca, Zanigni, Stefano, Monnet, Annabelle, Pross, Nathalie, Hahn, Andrea, Marchesi, Maddalena, Svoboda, Hanno, Britschgi, Markus, Lipsmeier, Florian, Volkova-Volkmar, Ekaterina, Lindemann, Michael, Dziadek, Sebastian, Holiga, Štefan, Rukina, Daria, Kustermann, Thomas, Kerchner, Geoffrey A, Simuni, Tanya, Fontoura, Paulo, Umbricht, Daniel, Doody, Rachelle, Nikolcheva, Tania, Bonni, Azad, Investigators, PASADENA, Group, Prasinezumab Study, Marek, Kenneth, Postuma, Ronald B, Pavese, Nicola, Stocchi, Fabrizio, and Azulay, Jean-Philippe

Subjects
Dopamine Plasma Membrane Transport Proteins, Parkinson Disease, General Medicine, therapeutic use [Antibodies, Monoclonal, Humanized], Antibodies, Monoclonal, Humanized, drug therapy [Parkinson Disease], Antiparkinson Agents, Treatment Outcome, Double-Blind Method, therapeutic use [Dopamine Plasma Membrane Transport Proteins], alpha-Synuclein, Humans, ddc:610, antagonists & inhibitors [alpha-Synuclein], therapeutic use [Antiparkinson Agents]
Abstract

Aggregated α-synuclein plays an important role in the pathogenesis of Parkinson's disease. The monoclonal antibody prasinezumab, directed at aggregated α-synuclein, is being studied for its effect on Parkinson's disease.In this phase 2 trial, we randomly assigned participants with early-stage Parkinson's disease in a 1:1:1 ratio to receive intravenous placebo or prasinezumab at a dose of 1500 mg or 4500 mg every 4 weeks for 52 weeks. The primary end point was the change from baseline to week 52 in the sum of scores on parts I, II, and III of the Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS; range, 0 to 236, with higher scores indicating greater impairment). Secondary end points included the dopamine transporter levels in the putamen of the hemisphere ipsilateral to the clinically more affected side of the body, as measured by 123I-ioflupane single-photon-emission computed tomography (SPECT).A total of 316 participants were enrolled; 105 were assigned to receive placebo, 105 to receive 1500 mg of prasinezumab, and 106 to receive 4500 mg of prasinezumab. The baseline mean MDS-UPDRS scores were 32.0 in the placebo group, 31.5 in the 1500-mg group, and 30.8 in the 4500-mg group, and mean (±SE) changes from baseline to 52 weeks were 9.4±1.2 in the placebo group, 7.4±1.2 in the 1500-mg group (difference vs. placebo, -2.0; 80% confidence interval [CI], -4.2 to 0.2; P = 0.24), and 8.8±1.2 in the 4500-mg group (difference vs. placebo, -0.6; 80% CI, -2.8 to 1.6; P = 0.72). There was no substantial difference between the active-treatment groups and the placebo group in dopamine transporter levels on SPECT. The results for most clinical secondary end points were similar in the active-treatment groups and the placebo group. Serious adverse events occurred in 6.7% of the participants in the 1500-mg group and in 7.5% of those in the 4500-mg group; infusion reactions occurred in 19.0% and 34.0%, respectively.Prasinezumab therapy had no meaningful effect on global or imaging measures of Parkinson's disease progression as compared with placebo and was associated with infusion reactions. (Funded by F. Hoffmann-La Roche and Prothena Biosciences; PASADENA ClinicalTrials.gov number, NCT03100149.).

Published
2022

32. Delayed-Onset Friedreichʼs Ataxia Revisited

Author

Lecocq, Claire, Charles, Perrine, Azulay, Jean-Philippe, Meissner, Wassilios, Rai, Myriam, NʼGuyen, Karine, Péréon, Yann, Fabre, Nelly, Robin, Elsa, Courtois, Sylvie, Guyant-Maréchal, Lucie, Zagnoli, Fabien, Rudolf, Gabrielle, Renaud, Mathilde, Sévin-Allouet, Mathieu, Lesne, Fabien, Alaerts, Nick, Goizet, Cyril, Calvas, Patrick, Eusebio, Alexandre, Guissart, Claire, Derkinderen, Pascal, Tison, Francois, Brice, Alexis, Koenig, Michel, Pandolfo, Massimo, Tranchant, Christine, Dürr, Alexandra, and Anheim, Mathieu

Published
2016
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35. Clinical and genetic characteristics of late-onset Huntington's disease

Author

Oosterloo, Mayke, Bijlsma, Emilia K., van Kuijk, Sander MJ., Minkels, Floor, de Die-Smulders, Christine EM., Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna-Rita, Biunno, Ida, Bonelli, Raphael M., Bronzova, Juliana, Burgunder, Jean-Marc, Dunnett, Stephen B., Ferreira, Joaquim J., Frich, Jan, Giuliano, Joe, Handley, Olivia J., Heiberg, Arvid, Illarioshkin, Sergey, Illmann, Torsten, Klempir, Jiri, Landwehrmeyer, G. Bernhard, Levey, Jamie, Mclean, Tim, Nielsen, Jørgen E., Koivisto, Susana Pro, Päivärinta, Markku, Pålhagen, Sven, Quarrell, Oliver, Ramos-Arroyo, Maria, Roos, Raymund A. C., Saft, Carsten, Sebastián, Ana Rojo, Tabrizi, Sarah J., Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström+, Jan, Zaremba, Jacek (formerly Rödig, Verena, Baake, Barth, Katrin, Garde, Monica Bascuñana, Becanovic, Kristina, Bernard, Tomáš, Betz, Sabrina, Bos, Reineke, Come, Adrien, Guedes, Leonor Correia, Callaghan, Jenny, Capodarca, Selene, Charpentier, Sébastien, Vieira da Silva, Wildson, Di Renzo, Martina, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Horta, Andrea, Hvalstedt, Carina, Held, Christine, Hussain, Hasina, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saul, Mestre, Tiago, Minster, Sara, Monza, Daniela, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Peppa, Nadia, Rindal, Beate, Rogers, Dawn, Røren (formerly Heinonen), Niini, Salgueiro, Ana, Šašinková, Pavla, Seliverstov, Yury, Taylor, Catherine, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, van Walsem, Marleen R., Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Yudina, Elizaveta, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Hecht, Karen, Herranhof, Brigitte, Holl (formerly Hödl), Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Lilek, Sabine, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Larcher, Barbara, Mahlknecht, Philipp, Müller, Christoph, Pinter, Bernadette, Poewe, Werner, Reiter, Eva-Magdalena, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Ladurner, Gunther, Lilek, Stefan, Sinadinosa, Daniela, Staffen, Wolfgang, Walleczek, Anna Maria, Linder, Christoph, Pirker, Walter, Liessens, Dirk, Calmeyn, Godelinde, Somers, Nele, Delvaux, Isabelle, Boogaerts, Andrea, Flamez, Anja, de Raedt, Sylvie, Alaerts, Nick, Slama, Hichem, Supiot, Frédéric, Constant, Eric, Gillardin, Anne-Françoise, Léonard, Marie-Claude, van de Wyngaerde, Françoise, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, van Reijen, Dimphna, Weckx, Petra, Kaiserova, Michaela, Šenkárová, Zuzana, Bezdíček, Ondřej, Klempíř, Jiří, Klempířová, Olga, Majerová-Ibarburu, Veronika, Nikolai, Tomáš, Roth, Jan, Stárková, Irena, Madsen, Louise Hasselstrøm, Møller, Anette Torvin, Hjermind, Lena, Jacobsen, Oda, Larsen, Ida Unmack, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Roos, Peter, Stockholm, Jette, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Lolk, Annette, Lundsgaard, Marianne, Wermuth, Lene, Andersson, Christian, Nyberg, Clara, Sundblom, Jimmy, Peippo, Maarit, Sipponen, Marjatta, Bruun, Anu, Hartikainen, Paivi, Mäkipää, Seija, Ollokainen, Mari, Åman, Jaana, Kärppä, Mikko, Ignatius, Jaakko, Jääskeläinen, Outi, Kajula, Outi, Moilanen, Jukka, Mustonen, Aki, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Ojala, Marjut, Tähkäpää, Sirkku, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Bled, Déborah, Debruxelles, Sabrina, Duché, Charlotte, Fraisse, Sonia, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Couttier, Julien, Debilly, Bérengère, Delaigue, Christine, Derost, Philippe, Durif, Franck, Germain, Véronique, Legendre, Perrine, Loiseau, Sylvie, Marques, Ana, Ulla, Miguel, Vidal, Tiphaine, Badei, Farideh, Boissé, Marie-Françoise, Boudali, Lotfi, Cleret de Langavant, Laurent, Lemoine, Laurie, Morgado, Graca, Youssov, Katia, Annic, Agnès, Barthélémy, Recka, De Bruycker, Christelle, Cabaret, Maryline, Carette, Anne-Sophie, Carrière, Nicolas, Decorte, Eric, Defebvre, Luc, Delliaux, Marie, Delval, Arnaud, Depelchin, Alizé, Destee, Alain, Dewulf-Pasz, Nelly, Dondaine, Thibaut, Dugauquier, Florence, Dujardin, Kathy, Hopes, Lucie, Krystkowiak, Pierre, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Mutez, Eugénie, Peter, Mireille, Plomhause, Lucie, Sablonnière, Bernard, Simonin, Clémence, Tard, Céline, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Blin, Stéphanie, Chen, Simone, Masmoudi, Kamel, Morin, Gilles, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Zouitina, Yassine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Guenam, Aicha, Mundler, Laura, Nguyen, Karine, Benaich, Sandra, Brice, Alexis, Boster, Sarah, Charles, Perrine, Durr, Alexandra, Ewenczyk, Claire, Francisque, Hélène, Jauffret, Céline, Justo, Damian, Kassar, Abdulrahman, Klebe, Stephan, Lesne, Fabien, Milani, Paolo, Monin, Marie-Lorraine, Monnier, Tiffany, Roze, Emmanuel, Tataru, Alina, Tchikviladzé, Maya, Bioux, Sandrine, Bliaux, Evangeline, Girard, Carole, Guyant-Maréchal, Lucie, Hannequin, Didier, Hannier, Véronique, Jourdain, Séverine, Maltête, David, Pouliquen, Dorothée, Anheim, Mathieu, Barun, Nadia, Lagha-Boukbiza, Ouhaid, Longato, Nadine, Marcel, Christophe, Phillipps, Clélie, Rudolf, Gabrielle, Steinmetz, Gisèle, Tranchant, Christine, Wagner, Caroline, Zimmermann, Marie-Agathe, Blondeau, Leily, Calvas, Fabienne, Cheriet, Samia, Delabaere, Helène, Demonet, Jean-François, Marquine, Laurent, Pariente, Jérémie, Pierre, Michèle, Pomies, Elsa, Rolland, Sandrine, Souyris, Corinne, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johannes, Schlangen, Christiane, Werner, Cornelius J., Beuth, Markus, Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike, Thiel, Silvia, Andrich, Jürgen, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kraus, Peter, Stamm, Christiane, Ganos, Christos, Stubbe, Lars, Tadic, Vera, Tübing, Jennifer, Lange, Herwig, Bosredon, Cecile, Hunger, Ulrike, Löhle, Matthias, Maass, Antonia, Ossig, Christiana, Schmidt, Simone, Storch, Alexander, Wolz, Annett, Wolz, Martin, Kohl, Zacharias, Kozay, Christina, Winkler, Jürgen, Bergmann, Ulrike, Böringer, Regina, Capetian, Philipp, Kammel, Gerit, Lambeck, Johann, Mächtel, Miriam, Meier, Simone, Rijntjes, Michel, Zucker, Birgit, Boelmans, Kai, Goerendt, Ines, Heinicke, Walburgis, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Francis, Flverly, Gayde-Stephan, Sabine, Gorzolla, Heike, Kramer, Bianca, Minschke, Rebecca, Schrader, Christoph, Tacik, Pawel, Ribbat+, Michael, Longinus, Bernhard, Möller, Carsten, Bürk, Katrin, Lüsebrink, Antje, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Göpfert, Nicole, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Nathalia, Bachmeier, Michael, Dose, Matthias, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Vogel, Melanie, Weydt, Patrick, Musacchio, Thomas, Leypold, Christine, Nöth, Kerstin, Cormio, Claudia, Difruscolo, Olimpia, Franco, Giovanni, Nuzzi, Angela, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, Agosti, Chiara, Barlati, Sergio, Compostella, Silvia, Marchina, Eleonora, Padovani, Alessando, Figorilli, Michela, Marrosu, Francesco, Muroni, Antonella, Piras, Valeria, Vacca, Melisa, Bertini, Elisabetta, Bartoli, Caterina, Fortunato, Fernanda, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, Bandettini di Poggio, Monica, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Di Maria, Emilio, Tamburini, Tiziano, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, Di Donato, Stefano, Di Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Paridi, Dominga, Soliveri, Paola, Spagnolo, Francesca, Taroni, Franco, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Tucci, Tecla, Cannella, Milena, Codella, Valentina, De Gregorio, Francesca, De Nicola, Annunziata, Elifani, Francesca, Esposito, Chiara, Martino, Tiziana, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Vezza, Maurizio, Squitieri, Ferdinando, D'Alessio, Barbara, Lovo, Francesca, Bentivoglio, Anna Rita, Bove, Francesco, Catalli, Claudio, Di Giacopo, Raffaella, Fasano, Alfonso, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Loria, Giovanna, Modoni, Anna, Petracca, Martina, Piano, Carla, Chiara, Piccininni, Quaranta, Davide, Romano, Silvia, Soleti, Francesco, Solito, Marcella, Spadaro, Maria, Torlizzi, Flavia, Coarelli, Giulia, Ferraldeschi, Michela, Ristori, Giovanni, van Hout, Monique S. E., van Vugt, Jeroen P. P., Marit de Weert, A., Verhoeven, Marloes, Dekker, Meike, Klooster, Jesper, Leenders, Nico, van Oostrom, Joost, Kremer, Berry, Baake, Verena, van den Bogaard, Simon J. A., Dumas, Eve M., t Hart, Ellen P., Hogenboom, Marye, Jacobs, Milou, Jurgens, Caroline, Kampstra, Anne, Schoonderbeek, Anne, Witjes-Ané, Marie-Noëlle, Duits, Annelien, Waber, Mirella, Verstappen, Carla, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Aanonsen, Nils Olaf, Bjørgo, Kathrine, Borgerød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Haggag, Kathrine, Johannessen, Cecilie Haggag, Retterstøl, Lars, Røsby, Oddveig, Rummel, Jutta, Sikiric, Alma, Stokke, Bodil, van Walsem, Marleen, Wehus, Ragnhild, Arntsen, Vibeke, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Østern, Rune, Paulsen, Julie, Dziadkiewicz, Artur, Konkel, Agnieszka, Narożańska, Ewa, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michał, Błaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Kłodowska – Duda, Gabriela, Opala, Grzegorz, Rudzińska, Monika, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Małgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Stenwak, Agata, Szczudlik, Andrzej, Szczygieł, Elżbieta, Wójcik, Magdalena, Wasielewska, Anna, Anna Bryl, Jacek Anioła, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Gogol (formerly Kalbarczyk), Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski+, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stępniak, Iwona, Sułek, Anna, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Almeida, Manuel, Calado, Ana, Dias, Margarida, Morgado, Joana, Semedo, Cristina, Coelho, Miguel, Magalhães, Andreia, Mendes, Tiago, Neutel, Dulce, Rodrigues, Filipe, Valadas, Anabela, Costa, Cristina, Cardoso, Helena, Santos, Mariana, Cação, Gonçalo, Cavaco, Sara, Damásio, Joana, Fernandes, Joana, Gonçalves, Alexandra, Loureiro, Rui, Moreira, Inês, Magalhães, Marina, Salgado, Paula, Andrade, Carlos, Costa, Andreia, Garrett, Carolina, Gago, Miguel, Guimarães, Joana, Massano, João, Meireles, Joana, Monteiro, Ana, Khasanova, Diana, Zalyalova, Zuleykha, Klyushnikov, Sergey, Sidorova, Olga, Smirnov, Oleg, Antonova, Victoria, Kopishinskaya, Svetlana, Korotysh, Maria, Magzhanov, Rim, Saifullina, Elena, Kurbatov, Sergey, Solis, Pilar, Herrera, Carmen Durán, Moreno, Patrocinio Garcia, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Classen, Serge Jaumà, Dedichá, Nadia Rodríguez, Buongiorno, María Teresa, María, Andrés de la Cerda Santa, Muñoz, Esteban, Santacruz, Pilar, Barbera, Miquel Aguilar, Pardo, Sonia Arribas, Guia, Dolors Badenes, Calzado, Noemi, Hernanz, Laura Casas, Tartari Díaz-Zorita, Juan Pablo, Catena, Judit López, Ferrer, Pilar Quiléz, Carruesco, Gemma Tome, Robert, Misericordia Floriach, Viladrich, Cèlia Mareca, Roca, Elvira, Ruiz Idiago, Jesús Miguel, Riballo, Antonio Villa, Campolongo, Antonia, Fernandez de Bobadilla, Ramon, Bojarsky, Jaime Kulisevsky, Pagonabarraga, Javier, Perez, Jesus Perez, Ribosa, Roser, Villa, Carolina, Acera Gil, Maria Angeles, Corrales, Koldo Berganzo, Gomez Esteban, Juan Carlos, González, Amaia, Merino, Beatriz Tijero, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Sánchez, Jesús, Romero, Sandra Gutierrez, Arbelo, José Matías, Malo de Molina, Rocío, Martín, Idaira, Periañez, Juan Manuel, Udaeta, Beatriz, Alonso-Frech, Fernando, Loarte, María del Valle, Barrero, Francisco, Morales, Blas, Frades, Belén, Villanueva, Marina Ávila, Zea Sevilla, Maria Ascension, Fenollar, María del Mar, García-Ramos García, Rocío, Villanueva, Clara, Bascuñana, Mónica, Ventura, Marta Fatás, Caldentey, Juan García, Ribas, Guillermo García, García de Yébenes, Justo, López-Sendón Moreno, José Luis, Barral, Verónica Mañanes, Feliz, Cici, García Ruíz, Pedro José, García, Ana, López, Rosa Guerrero, Bárcenas, Antonio Herranz, Martínez-Descals, Asunción, Pueyo, Angel Martínez, Martin, Veronica Puertas, Martínez, Noelia Rodríguez, Montojo, Teresa, Sainz Artiga, María José, Sánchez, Vicenta, Alarcón, María Dolores, Almagro, Carmen Antúnez, Diéguez, Esther, Fortuna, Lorenza, Legaz, Agustina, Manzanares, Salvadora, Muñoz, Juan Marín, Antequera Torres, María Martirio, Perea, Fuensanta Noguera, Vivancos, Laura, González, Sonia, Guisasola, Luis Menéndez, Prieto, Marta Para, Ribacoba, René, Salvador, Carlos, Lozano, Pablo Sánchez, Ramirez, Inés Legarda, Benito, Dolors Moragues, Arques, Penelope Navas, Lopera, Monica Rodriguez, Pastor, Barbara Vives, Gaston, Itziar, Garcia-Amigot, Fermin, Martinez-Jaurrieta, Maria Dolores, Ramos-Arroyo, Maria Antonia, Adarmes, Astrid, Bernal-Escudero, Maravilla, Carrillo, Fátima, Jesús, Silvia, Mir, Pablo, Vargas-González, Laura, Hermoso, Fátima Damas, García Moreno, José Manuel, Jaramillo, Javier Abril, Lucena, Carolina Mendez, Pacheco Cortegana, Eva María, Peña, José Chacón, Redondo, Luis, Sánchez, Violeta Sánchez, Fernandez, Cristina Melgar, Romero Lemos, María Dolores, Mata, Maite Paredes, Casado, Rocío Villagrán, Bosca, Maria, Burguera, Juan Andres, Brugada, Francisco Castera, Millán Salvador, Jose Maria, Vilaplana, Carmen Peiró, Solís, Pilar, Figuerola, Begoña Jeweinat, Palanca, Paloma Millan, Diago, Elena Bellosta, López del Val, Javier, Martinez, Laura Martinez, López, Elena, Høsterey-Ugander, Ulrika, Fredlund, Gunnel, Constantinescu, Radu, Lewin, Kajsa, Neleborn-Lingefjärd, Liselotte, Berglund, Maria, Berglund, Peter, Linnsand, Petra, Petersén, Åsa, Reimer, Jan, Widner, Håkan, Esmaeilzadeh, Mouna, Tedroff, Joakim, Winnberg, Elisabeth, Benaminov, Stanislav, Björnsson, Elisabeth, Merrick, Daniel, Paucar, Martin, Svenningsson, Per, Wallden, Tina, Berglund, Måns, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Ekwall, Camilla, Göller, Marie-Lousie, Johansson, Anders, Niemelä, Valter, Nyholm, Dag, Wiklund, Leif, Koehli, Jessica, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Zaugg, Sabine Weber, Esposito, Federica, Good, Jean-Marc, Paus, Karin, Vingerhoets, Francois, Wider+, Christian, Jung, Hans H., Petersen, Jens A., Ligon-Auer, Maria, Mihaylova, Violeta, Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A., Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Harrower, Timothy, Vernon, Nathan, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza (Keylock), Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Haig-Brown, Diane, Craven, Janet, Pallett, Andrew, Simpson, Steve, Weekes, Rebecca, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Barker, Roger A., O'Keefe, Deidre, Gerrtiz (nee Di Pietro), Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Goudie, David, Buchanan, Lindsay, Mcfadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Carrie, Ho, Mcgill, Marie, Porteous, Mary, Pearson, Pauline, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Neumann, Christian, Patterson, Kirsten, Thomson, David, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Brown, Pauline, Burrows, Liz, Fletcher, Amy, Harding, Alison, Harrison, Kaye, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Rowett, Liz, Andrew, Alyson, Frost, Julie, Noad, Rupert, Cosgrove, Jeremy, Gallantree, Deena, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, Alusi, Sundus, Davies, Rhys, Foy, Kevin, Gerrans, Emily, Pate, Louise, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, Mcentagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Gosling (nee Brown), Stefanie, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thomas, Wild, Edward, Ackermann, Oda, Duport, Sophie, Scott, Adrienne, Stoy, Nicholas, Vaughn, Jenny, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iris, Verstraelen (formerly Ritchie), Nichola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Fullerton, Neil, Holmes, Katrina, Komati, Suresh, Mcdonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Lois, Singh, Baldev, Wood, Josh, Knight, Caroline, O'Neill, Mari, Purkayastha, Debasish Das, Nemeth, Andrea H., Siuda, Gill, Valentine, Ruth, Dixon, Kathryn, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, Donovan, John O., Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Burn, John, Bailey, Wendy, Coleman, Caroline, Majeed, Tahir, Verstraelen (Ritchie), Nicola, Barrett, Wendy, Aileen, Ho, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Taylor, Cat, Tidswell, Katherine, Kipps, Christopher, Mackinnon, Lesley, Agarwal, Veena, Hayward, Elaine, Gunner, Kerry, Harris, Kayla, Anderson, Mary, Heywood, Melanie, Keys, Liane, Smalley, Sarah, El-Nimr, George, Duffell, Allison, Wood, Sue, Kennedy (nee Smith), Karen, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Tan, Louis, Lau, Puay Ngoh, Pica, Emmanuel, Roos, Raymund AC., Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), MUMC+: KIO Kemta (9), Epidemiologie, RS: CAPHRI - R2 - Creating Value-Based Health Care, Klinische Genetica, MUMC+: DA KG Polikliniek (9), and RS: GROW - R4 - Reproductive and Perinatal Medicine

Subjects
Male, HD, 0301 basic medicine, Pediatrics, Neurology, Huntingtin Protein/genetics, FEATURES, Disease, Neuropsychological Tests, 0302 clinical medicine, Cognitive Dysfunction/psychology, Medicine, Family history, Postural Balance, Huntington Disease/genetics, Huntingtin Protein, education.field_of_study, Chorea/physiopathology, Huntington's disease, Sensation Disorders/physiopathology, Middle Aged, Dystonia, Settore MED/26 - NEUROLOGIA, Huntington Disease, neurodegenerative disorders, Sensation Disorders, Disease Progression, Female, medicine.symptom, Adult, medicine.medical_specialty, Population, Age of onset, Late-onset Huntington's disease, Geriatrics and Gerontology, Neurology (clinical), 03 medical and health sciences, AGE, Chorea, Humans, Cognitive Dysfunction, education, Dystonia/physiopathology, Gait Disorders, Neurologic/physiopathology, Gait Disorders, Neurologic, business.industry, medicine.disease, Gait, 030104 developmental biology, Trinucleotide Repeat Expansion, business, 030217 neurology & neurosurgery, Balance problems
Abstract

Background: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P

Published
2019

37. Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson’s disease

Author

Moreau, Caroline, Meguig, Sayah, Corvol, Jean-Christophe, Labreuche, Julien, Vasseur, Francis, Duhamel, Alain, Delval, Arnaud, Bardyn, Thomas, Devedjian, Jean-Christophe, Rouaix, Nathalie, Petyt, Gregory, Brefel-Courbon, Christine, Ory-Magne, Fabienne, Guehl, Dominique, Eusebio, Alexandre, Fraix, Valérie, Saulnier, Pierre-Jean, Lagha-Boukbiza, Ouhaid, Durif, Frank, Faighel, Mirela, Giordana, Caroline, Drapier, Sophie, Maltête, David, Tranchant, Christine, Houeto, Jean-Luc, Debû, Bettina, Azulay, Jean-Philippe, Tison, François, Destée, Alain, Vidailhet, Marie, Rascol, Olivier, Dujardin, Kathy, Defebvre, Luc, Bordet, Régis, Sablonnière, Bernard, and Devos, David

Published
2015
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38. Early Parkinson's Disease Phenotypes Tailored by Personality, Behavior, and Motor Symptoms.

Author

Meira, Bruna, Lhommée, Eugénie, Schmitt, Emmanuelle, Klinger, Hélène, Bichon, Amélie, Pélissier, Pierre, Anheim, Mathieu, Tranchant, Christine, Fraix, Valérie, Meoni, Sara, Durif, Franck, Houeto, Jean-Luc, Azulay, Jean Philippe, Moro, Elena, Thobois, Stéphane, Krack, Paul, and Castrioto, Anna

Subjects
APATHY, PARKINSON'S disease, REWARD (Psychology), PERSONALITY, PHENOTYPES, SYMPTOMS, MOVEMENT disorders
Abstract

Background: Previous studies described a parkinsonian personality characterized as rigid, introverted, and cautious; however, little is known about personality traits in de novo Parkinson's disease (PD) patients and their relationships with motor and neuropsychiatric symptoms. Objective: To investigate personality in de novo PD and explore its relationship with PD symptoms. Methods: Using Cloninger's biosocial model, we assessed personality in 193 de novo PD patients. Motor and non-motor symptoms were measured using several validated scales. Cluster analysis was conducted to investigate the interrelationship of personality traits, motor, and non-motor symptoms. Results: PD patients showed low novelty seeking, high harm avoidance, and normal reward dependence and persistence scores. Harm avoidance was positively correlated with the severity of depression, anxiety, and apathy (rs = [0.435, 0.676], p < 0.001) and negatively correlated with quality of life (rs = –0.492, p < 0.001). Novelty seeking, reward dependence, and persistence were negatively correlated with apathy (rs = [–0.274, –0.375], p < 0.001). Classification of patients according to personality and PD symptoms revealed 3 distinct clusters: i) neuropsychiatric phenotype (with high harm avoidance and low novelty seeking, hypodopaminergic neuropsychiatric symptoms and higher impulsivity), ii) motor phenotype (with low novelty seeking and higher motor severity), iii) benign phenotype (with low harm avoidance and high novelty seeking, reward dependence, and persistence traits clustered with lower symptoms severity and low impulsivity). Conclusion: Personality in early PD patients allows us to recognize 3 patients' phenotypes. Identification of such subgroups may help to better understand their natural history. Their longitudinal follow-up will allow confirming whether some personality features might influence disease evolution and treatment. [ABSTRACT FROM AUTHOR]

Published
2022
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39. Fatigue in de novo Parkinson's Disease: Expanding the Neuropsychiatric Triad?

Author

Béreau, Matthieu, Castrioto, Anna, Lhommée, Eugénie, Maillet, Audrey, Gérazime, Aurélie, Bichon, Amélie, Pélissier, Pierre, Schmitt, Emmanuelle, Klinger, Hélène, Longato, Nadine, Fraix, Valérie, Benatru, Isabelle, Durif, Franck, Azulay, Jean-Philippe, Moro, Elena, Broussolle, Emmanuel, Tranchant, Christine, Anheim, Mathieu, Thobois, Stéphane, and Krack, Paul

Subjects
APATHY, PARKINSON'S disease, CANCER fatigue, FATIGUE (Physiology), UNIVARIATE analysis
Abstract

Background: Fatigue is a frequent and troublesome symptom present from the early stages of Parkinson's disease (PD). Objective: To examine the relationship between fatigue and the neuropsychiatric triad, which includes apathy, depression, and anxiety, in de novo PD. Methods: We performed a cross-sectional study including 197 patients with de novo PD and assessed fatigue using the Parkinson's Disease Fatigue Scale (PDFS-16). We evaluated motor status using the Unified Parkinson's Disease Rating Scale (UPDRS) part III score and evaluated neuropsychiatric status using the Ardouin Scale of Behavior in Parkinson's Disease (ASBPD). We carried out univariate and multivariate analyses to model association between motor signs, non-motor signs, and fatigue risk. Results: Frequency of fatigue (28.9%) was of the same order of magnitude as that of apathy. PD patients with fatigue reported a lower quality of life than patients without fatigue (p < 0.0001). The ASBPD showed that patients with fatigue had higher scores for depressed mood (p < 0.0001), anxiety (p < 0.0001), and apathy (p < 0.0001). In the univariate analysis, fatigue score was positively correlated with apathy, depression, anxiety, and the neuropsychiatric triad as a whole, and to a lesser extent with female sex, hyperemotivity, and the UPDRS part III score. In the multivariate analysis, after adjusting for sex and motor status, the fatigue score remained significantly correlated with apathy (OR = 11.17 [4.33–28.78], p < 0.0001) and depression (OR = 4.28 [1.39–13.12], p = 0.01), but not with anxiety (OR = 0.94 [0.34–2.58], p = 0.9). Conclusion: We propose that the neuropsychiatric triad could be expanded to include fatigue. [ABSTRACT FROM AUTHOR]

Published
2022
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42. Rivastigmine in apathetic but dementia and depression-free patients with Parkinsonʼs disease: a double-blind, placebo-controlled, randomised clinical trial

Author

Devos, David, Moreau, Caroline, Maltête, David, Lefaucheur, Romain, Kreisler, Alexandre, Eusebio, Alexandre, Defer, Gilles, Ouk, Thavarak, Azulay, Jean-Philippe, Krystkowiak, Pierre, Witjas, Tatiana, Delliaux, Marie, Destée, Alain, Duhamel, Alain, Bordet, Régis, Defebvre, Luc, and Dujardin, Kathy

Published
2014
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43. Reducing Attentional Bias in Individuals With Alcohol Use Disorders With a Tablet Application: A Randomized Controlled Trial Pilot Study

Author

Pereira, Bruno, Benchetrit, Eve, Socha, Julie, Pineau, Fanny, Elbaz, Alexis, Artaud, Fanny, Mangone, Graziella, You, Hana, Cormier, Florence, Galitstky, Monique, Pomies, Elsa, Derkinderen, Pascal, Weintraub, Daniel, Corvol, Jean Christophe, Chereau-Boudet, Isabelle, Fantini, Maria Livia, Marques, Ana, Derost, Philippe, Boirie, Yves, Girard, Romuald, Obeso, Ignacio, Thobois, Stéphane, Park, Seongmin, Vidal, Tiphaine, Favre, Emilie, Ulla, Miguel, Broussolle, Emmanuel, Krack, Paul, Dreher, Jean-Claude, Corvol, Jean-Christophe, Durif, Franck, Meissner, Wassilios, Azulay, Jean-Philippe, Haddad, Raphaël, Guimarães-Costa, Raquel, Mariani, Louise-Laure, Cormier-Dequaire, Florence, Thalamas, Claire, Galitzky, Monique, Boraud, Thomas, Debilly, Bérengère, Eusebio, Alexandre, Houot, Marion, Dellapina, Estelle, Chaigneau, Véronique, Salis, Alexandrine, Lacomblez, Lucette, Benel, Laurent, Rascol, Olivier, Flaudias, Valentin, Zerhouni, Oulmann, Chakroun-Baggioni, Nadia, Pires, Sylvie, Schmitt, Audrey, De Chazeron, Ingrid, Llorca, Pierre Michel, Brousse, Georges, Service de Psychiatrie de l'Adulte B [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Laboratoire Parisien de Psychologie Sociale (LAPPS), Université Paris Nanterre (UPN)-Université Paris 8 Vincennes-Saint-Denis (UP8), Laboratoire de Psychologie Sociale et Cognitive (LAPSCO), Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), service de Biostatistiques, DRCI, Centre Hospitalier Universitaire de Clermont-Ferrand, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Epidemiology, Departments of Health Sciences Research, Mayo Clinic College of Medicine, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Neuropathies du système nerveux entérique et pathologies digestives, implication des cellules gliales entériques, Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Neurology, University of Pennsylvania [Philadelphia], Centres d'addictologies - Région Centre, CHU Clermont-Ferrand, Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux - Clermont Auvergne (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne (UCA), Service de neurologie, Hôpital Gabriel Montpied, Unité de Nutrition Humaine (UNH), Institut National de la Recherche Agronomique (INRA)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Clermont Université, Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Service de Neurologie [CHU Clermont-Ferrand], Hospices Civils de Lyon (HCL), Neurosciences précliniques, Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie [Le Kremlin Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre, CIC - Biotherapie - Toulouse, Institut National de la Santé et de la Recherche Médicale (INSERM), CIC Toulouse, Laboratoire Mouvement Adaptation Cognition (MAC), Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS), Institut de Neurosciences de la Timone (INT), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Imagerie cérébrale et handicaps neurologiques, Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UPS), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UPS), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Inter-universitaire de Psychologie : Personnalité, Cognition, Changement Social (LIP-PC2S ), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Grenoble Alpes (UGA), Laboratoire de Psychologie Sociale et Cognitive - Clermont Auvergne (LAPSCO), Université Clermont Auvergne (UCA)-Centre National de la Recherche Scientifique (CNRS), and Université Paris 8 Vincennes-Saint-Denis (UP8)-Université Paris Nanterre (UPN)

Subjects
Adult, Male, Cognitive bias modification, Ecological validity, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Mental processes, education, Craving, Pilot Projects, Alcohol use disorder, Attentional bias, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, Memory, medicine, Humans, ComputingMilieux_MISCELLANEOUS, Tablet dosage form, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, Cognitive Behavioral Therapy, Ethanol, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Play behavior, Cognition, General Medicine, Middle Aged, medicine.disease, Cognitive bias, 030227 psychiatry, Alcoholism, Inhibition, Psychological, Treatment Outcome, Therapy, Computer-Assisted, [SCCO.PSYC]Cognitive science/Psychology, Female, medicine.symptom, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Clinical psychology
Abstract

Aims Cognitive bias modification (CBM) training has been considered a promising and effective intervention tool for reducing cognitive biases toward alcohol. However, the link between the cognitive process and actual behavior remains statistically insignificant because computerized tasks do not have sufficient ecological validity and suffer from high dropout rates. The recent development of ‘serious games’ has shown encouraging results in maintaining adherence to health-related interventions. We aim to evaluate a CBM program using a gamified attentional bias (AB) training procedure on a touchpad for individuals with alcohol use disorders. Methods Forty-one patients were included in this study, 33 of whom displayed an AB and were randomly assigned into the ‘CBM group’ (N = 18, 16.7% women) or ‘Memory group’—which involved playing a memory game—(N = 15, no woman). Eight other participants (12.5% women) with no AB comprised the ‘Without AB group’. Efficacy was assessed for AB, craving, and inhibition and attentional capacities before and after the program. Results We observed that the reduction of AB was higher for the ‘CBM group’ (Mbefore = 153.61, SD = 172.21; Mafter = 18.00, SD = 77.71; t (17) = 4.21, P = 0.001) than for the ‘Memory group’ (Mbefore = 73.20, SD = 66.65; Mafter =42.47, SD = 113.77; ts Conclusions This study demonstrated an increased reduction of AB for patients included in the CBM program on a touchpad than for patients playing only a memory game.

Published
2020

47. Use of intravenous immunoglobulins in clinical practice: data from three French university hospitals

Author

Frauger, Elisabeth, Grassi, Jerome, Pradel, Vincent, Bornet, Charleric, Rouby, Frank, Delorme, Jean, Ousset, Sebastien, Braguer, Diane, Azulay, Jean-Philippe, Penot-Ragon, Christine, Harle, Jean-Robert, Bongrand, Marie-Claude, Weiller, Pierre-Jean, Pouget, Jean, Michel, Gérard, Micallef, Joelle, Reynier, Jean-Pierre, Tardieu, Sophie, Vanelle, Patrice, and Blin, Olivier

Published
2011
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50. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

Author

Mcnulty, Paul, Pilcher, Richard, Ramesh, Raviram, Necuiniate, Renata, Hughes, Alis, Farewell, Daniel, Holmans, Peter, Jones, Lesley, Bonelli, Raphael M., Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Lilek, Sabine, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Larcher, Barbara, Mahlknecht, Philipp, Müller, Christoph, Pinter, Bernadette, Poewe, Werner, Reiter, Eva-Magdalena, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Ladurner, Gunther, Lilek, Stefan, Sinadinosa, Daniela, Staffen, Wolfgang, Walleczek, Anna Maria, Constant, Eric, Gillardin, Anne-Françoise, Léonard, Marie-Claude, Verellen-Dumoulin, Christine, Van De Wyngaerde, Françoise, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, Boogaerts, Andrea, Vandenberghe, Wim, Van Reijen, Dimphna, Kaiserova, Michaela, Šenkárová, Zuzana, Klempíř, Jiří, Majerová, Veronika, Roth, Jan, Madsen, Louise Hasselstrøm, Møller, Anette Torvin, Hjermind, Lena, Jacobsen, Oda, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Stockholm, Jette, Larsen, Ida Unmack, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Lolk, Annette, Lundsgaard, Marianne, Wermuth, Lene, Andersson, Christian, Nyberg, Clara, Sundblom, Jimmy, Peippo, Maarit, Sipponen, Marjett, Hartikainen, Paivi, Ollokainen, Mari, Åman, Jaana, Ignatius, Jaakko, Kärppä, Mikko, Mustonen, Aki, Kajula, Outi, Jääskalainen, Outi, Moilanen, Jukka, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Couttier, Julien, Debilly, Bérengère, Delaigue, Christine, Durif, Franck, Legendre, Perrine, Loiseau, Sylvie, Ulla, Miguel, Vidal, Tiphaine, Bachoud-Lévi, Anne-Catherine, Badei, Farideh, Boissé, Marie-Françoise, Boudali, Lotfi, De Langavant, Laurent Cleret, Lemoine, Laurie, Morgado, Graca, Youssov, Katia, Annic, Agnès, Barthélémy, Recka, De Bruycker, Christelle, Cabaret, Maryline, Carette, Anne-Sophie, Carrière, Nicolas, Decorte, Eric, Defebvre, Luc, Delliaux, Marie, Delval, Arnaud, Depelchin, Alizé, Destee, Alain, Dewulf-Pasz, Nelly, Dondaine, Thibaut, Dugauquier, Florence, Dujardin, Kathy, Hopes, Lucie, Krystkowiak, Pierre, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Mutez, Eugénie, Peter, Mireille, Plomhause, Lucie, Sablonnière, Bernard, Simonin, Clémence, Tard, Céline, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Benoit, Alexandra, Berrisoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Flament, Mélanie, Godefroy, Olivier, Mantaux, Béatrice, Playe, Alicia, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Azulay, Jean-Philippe, Chabot, Christelle, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Grosjean, Hélène, Mundler, Laura, Nowak, Marielle, Raseta, Rolland, Benaich, Sandra, Brice, Alexis, Charles, Perrine, Durr, Alexandra, Ewenczyk, Claire, Francisque, Hélène, Jauffret, Céline, Justo, Damian, Kassar, Abdulrahman, Klebe, Stephan, Lesne, Fabien, Milani, Paolo, Monin, Marie-Lorraine, Roze, Emmanuel, Tataru, Alina, Tchikviladzé, Maya, Bioux, Sandrine, Bliaux, Evangeline, Girard, Carole, Guyant-Maréchal, Lucie, Hannequin, Didier, Hannier, Véronique, Jourdain, Séverine, Maltête, David, Pouliquen, Dorothée, Lagha-Boukbiza, Ouhaid, Longato, Nadine, Marcel, Christophe, Phillipps, Clélie, Rudolf, Gabrielle, Steinmetz, Giséle, Tranchant, Christine, Wagner, Caroline, Zimmermann, Marie-Agathe, Blondeau, Leily, Calvas, Fabienne, Cheriet, Samia, Delabaere, Helène, Demonet, Jean-François, Pariente, Jérémie, Pierre, Michèle, Rolland, Sandrine, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johannes, Schlangen, Christiane, Werner, Cornelius J., Beuth, Markus, Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike, Thiel, Silvia, Andrich, Jürgen, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kraus, Peter, Saft, Carsten, Stamm, Christiane, Lange, Herwig, Maiwald, Robert, Bosredon, Cecile, Hunger, Ulrike, Löhle, Matthias, Maass, Antonia, Ossig, Christiana, Schmidt, Simone, Storch, Alexander, Wolz, Annett, Wolz, Martin, Kohl, Zacharias, Kozay, Christina, Winkler, Jürgen, Bergmann, Ulrike, Böringer, Regina, Capetian, Philipp, Kammel, Gerit, Lambeck, Johann, Mächtel, Miriam, Meier, Simone, Rijntjes, Michel, Zucker, Birgit, Boelmans, Kai, Ganos, Christos, Goerendt, Ines, 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Franco, Giovanni, Sciruicchio, Vittorio, Serpino, Claudia, De Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, DI Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, DI Maria, Emilio, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, DI Donato, Stefano, DI Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Monza, Daniela, Nanetti, Lorenzo, Panzeri, Marta, Paridi, Dominga, Soliveri, Paola, Spagnolo, Francesca, Taroni, Franco, Tomasello, Chiara, De Michele, Giuseppe, DI Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Tucci, Tecla, Cannella, Milena, Codella, Valentina, 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Peiró, Solís, Pilar, Figuerola, Begoña Jeweinat, Palanca, Paloma Millan, Wahlström, Jan, Høsterey-Ugander, Ulrika, Fredlund, Gunnel, Constantinescu, Radu, Neleborn-Lingefjärd, Liselotte, Berglund, Maria, Berglund, Peter, Linnsand, Petra, Björnsson, Elisabeth, Paucar, Martin, Pålhagen, Sven, Svenningsson, Per, Wallden, Tina, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Ekwall, Camilla, Göller, Marie-Lousie, Burgunder, Jean-Marc, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Zaugg, Sabine Weber, Esposito, Federica, Good, Jean-Marc, Paus, Karin, Vingerhoets, Francoi, Wider, Christian, Jung, Hans H., Petersen, Jens A., Ligon-Auer, Maria, Mihaylova, Violeta, Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A, Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Harrower, Timothy, Vernon, Nathan, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, De Souza Keylock, Jenny, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Hayward, Beverley, Sieradzan, Kasia, Wright, Abigail, Barker, Roger A., O'Keefe, Deidre, DI Pietro, Anna Gerrtiz, Fisher, Kate, Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Fullam, Ruth, Hunt, Sarah, Jones, Una, Khalil, Hanan, Minster, Sara, Owen, Michael, Price, Kathleen, Townhill, Jenny, Rosser, Anne, Goudie, David, Buchanan, Lindsay, McFadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Ho, Carrie, McGill, Marie, Porteous, Mary, Pearson, Pauline, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, McKenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Burrows, Liz, Fletcher, Amy, Harding, Alison, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Andrew, 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Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nicola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Komati, Suresh, McDonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Loi, Singh, Baldev, Wood, Josh, Knight, Caroline, O'Neill, Mari, Das Purkayastha, Debasish, Nemeth, Andrea H, Siuda, Gill, Valentine, Ruth, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, Donovan, John O, Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Burn, John, Weekes, Rebecca, Craven, Janet, Bailey, Wendy, Coleman, Caroline, Haig-Brown, DIane, Simpson, Steve, Majeed, Tahir, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Peppa, Nadia, Quarrell, Oliver, Taylor, Cat, Tidswell, Katherine, Agarwal, Veena, Anderson, Mary, Gunner, Kerry, Harris, Kayla, Hayward, Elaine, Heywood, Melanie, Keys, Liane, MacKinnon, Lesley, Kipps, Christopher, Smalley, Sarah, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Gowers, Lesley, Phillips, Michelle, Powell, Kingsley, Biunno, Ida, Bronzova, Juliana, Giuliano, Joe, Handley, Olivia J., Illarioshkin, Sergey, Illmann, Torsten, Levey, Jamie, McLean, Tim, Koivisto, Susana Pro, Päivärinta, Markku, Uhrova, Tereza, Betz, Sabrina, Come, Adrien, Capodarca, Selene, Charpentier, Sébastien, Da Silva, Wildson Vieira, DI Renzo, Martina, Finisterra, Ana Maria, Genoves, Camille, Gilling, Mette, Hvalstedt, Carina, Koppers, Kerstin, Lamanna, Claudia, Laurá, Matilde, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Rindal, Beate, Røren, Niini, Šašinková, Pavla, Seliverstov, Yury, Timewell, Erika, Witjes-Ané, Marie-Noelle, Yudina, Elizaveta, Zielonka, Eugeniusz, Mcnulty, Paul, Hannequin, Didier, Diercks, Gabriele, Dressler, Dirk, Difruscolo, Olimpia, Van Hout, Monique S. E., Van Vugt, Jeroen P. P., Van Den Bogaard, Simon J. A., Hart'T, Ellen P., Roos, Raymund A. C., Dias, Margarida, Diéguez, Esther, Mcfadyen, Paula, Mcgill, Marie, Mckenzie, Sue, Dipple, Heather, Mcentagart, Meriel, Mcdonnell, Sharon, Haig-Brown, Diane, Mackinnon, Lesley, and Mclean, Tim

Subjects
Adult, Male, Adolescent, Huntington's disease, cancer, neurodegeneration, trinucleotide repeat, Cellular and Molecular Neuroscience, Young Adult, Neoplasms, Trinucleotide repeat, Humans, Genetic Predisposition to Disease, Prospective Studies, Registries, Age of Onset, Neurodegeneration, Child, Aged, Cancer, Aged, 80 and over, Huntingtin Protein, Incidence, Infant, Newborn, Infant, Middle Aged, Europe, Settore MED/26 - NEUROLOGIA, Huntington Disease, Huntington’s disease, Child, Preschool, Female, Neurology (clinical), Trinucleotide Repeat Expansion
Abstract

Background: People with Huntington's disease (HD) have been observed to have lower rates of cancers. Objective: To investigate the relationship between age of onset of HD, CAG repeat length, and cancer diagnosis. Methods: Data were obtained from the European Huntington's disease network REGISTRY study for 6540 subjects. Population cancer incidence was ascertained from the GLOBOCAN database to obtain standardised incidence ratios of cancers in the REGISTRY subjects. Results: 173/6528 HD REGISTRY subjects had had a cancer diagnosis. The age-standardised incidence rate of all cancers in the REGISTRY HD population was 0.26 (CI 0.22-0.30). Individual cancers showed a lower age-standardised incidence rate compared with the control population with prostate and colorectal cancers showing the lowest rates. There was no effect of CAG length on the likelihood of cancer, but a cancer diagnosis within the last year was associated with a greatly increased rate of HD onset (Hazard Ratio 18.94, p < 0.001). Conclusions: Cancer is less common than expected in the HD population, confirming previous reports. However, this does not appear to be related to CAG length in HTT. A recent diagnosis of cancer increases the risk of HD onset at any age, likely due to increased investigation following a cancer diagnosis.

Published
2018

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