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

Author

Carneiro, Fábio, Saracino, Dario, Huin, Vincent, Clot, Fabienne, Delorme, Cécile, Méneret, Aurélie, Thobois, Stéphane, Cormier, Florence, Corvol, Jean Christophe, Lenglet, Timothée, Vidailhet, Marie, Habert, Marie-Odile, Gabelle, Audrey, Beaufils, Émilie, Mondon, Karl, Tir, Mélissa, Andriuta, Daniela, Brice, Alexis, Deramecourt, Vincent, and Ber, Isabelle Le

Subjects
Quantitative Biology - Neurons and Cognition
Abstract

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

Published
2022
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2. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

Author

Méreaux, Jean-Loup, Davoine, Claire-Sophie, Pellerin, David, Coarelli, Giulia, Coutelier, Marie, Ewenczyk, Claire, Monin, Marie-Lorraine, Anheim, Mathieu, Le Ber, Isabelle, Thobois, Stéphane, Gobert, Florent, Guillot-Noël, Léna, Forlani, Sylvie, Jornea, Ludmila, Heinzmann, Anna, Sangare, Aude, Gaymard, Bertrand, Guyant-Maréchal, Lucie, Charles, Perrine, Marelli, Cecilia, Honnorat, Jérôme, Degos, Bertrand, Tison, François, Sangla, Sophie, Simonetta-Moreau, Marion, Salachas, François, Tchikviladzé, Maya, Castelnovo, Giovanni, Mochel, Fanny, Klebe, Stephan, Castrioto, Anna, Fenu, Silvia, Méneret, Aurélie, Bourdain, Frédéric, Wandzel, Marion, Roth, Virginie, Bonnet, Céline, Riant, Florence, Stevanin, Giovanni, Noël, Sandrine, Fauret-Amsellem, Anne-Laure, Bahlo, Melanie, Lockhart, Paul J., Brais, Bernard, Renaud, Mathilde, Brice, Alexis, and Durr, Alexandra

Published
2024
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3. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsResearch in context

Author

Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, and Alexandra Durr

Subjects
SCA27B, Hereditary cerebellar ataxia, GAA expansion, Diagnosis, Medicine, Medicine (General), R5-920
Abstract

Summary: Background: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and frequency of FGF14 expanded alleles in individuals with cerebellar ataxia as compared with controls and to characterize genetic and clinical variability. Methods: We sized this repeat in 1876 individuals from France sampled for research purposes in this cross-sectional study: 845 index cases with cerebellar ataxia and 324 affected relatives, 475 controls, as well as 119 cases with spastic paraplegia, and 113 with familial essential tremor. Findings: A higher frequency of expanded allele carriers in index cases with ataxia was significant only above 300 GAA repeats (10.1%, n = 85) compared with controls (1.1%, n = 5) (p

Published
2024
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5. Personality assessment with Temperament and Character Inventory in Parkinson's disease

Author

Moreau, Caroline, Defebvre, Pr Luc, Carriere, Dr Nicolas, Grolez, Dr Guillaume, Baille, Dr Guillaume, Kreisler, Dr, Jean-Pierre Pruvo, Pr, Leclerc, Pr, Lopes, Dr Renaud, Viard, Dr Romain, Kuchcinski, Dr Gregory, Dumont, Mr Julien, Dujardin, Pr Kathy, Delliaux, Mme M., Brion, Mrs M., Touzet, Dr Gustavo, Reyns, Pr Nicolas, Delval, Pr Arnaud, Santraine, Mrs Valerie, Pleuvret, Mrs Marie, Dautrevaux, Mrs Nolwen, Laugeais, Mr Victor, Ouk, Thavarak, Potey, Camille, Leclercq, Celine, Gers, Elise, Corvol, Jean-Christophe, Marie-Vidailhet, Hainque, Elodie, Welter, Marie-Laure, Lacomblez, Lucette, Grabli, David, Roze, Emmanuel, Worbe, Yulia, Delorme, Cécile, You, Hana, Ihle, Jonas, Guimeraes-Costa, Raquel, Cormier-Dequaire, Florence, Méneret, Aurélie, Hartmann, Andréas, Mariani, Louise-Laure, Lehericy, Stéphane, Czernecki, Virginie, Pineau, Fanny, Bozon, Frédérique, Huiban, Camille, Benchetrit, Eve, Karachi, Carine, Navarro, Soledad, Cornu, Philippe, Welaratne, Arlette, Dongmo-Kenfack, Carole, Mantisi, Lise, Jarry, Nathalie, Aix, Sophie, Lefort, Carine, Rouaud, Dr Tiphaine, Damier, Pr Philippe, Derkinderen, Pr Pascal, Anne-Gaelle Corbille, Dr, Calvier-Auffray, Dr Elisabeth, Rocher, Mrs Laetitia, Anne-Laure Deruet, Mrs, Sylvie, Dr Raoul, Vincent, Dr Roualdes, Le Dily Séverine, Mrs, Marques, Dr Ana, Debilly, Dr Berangere, Durif, Pr Franck, Derost, Dr Philippe, Beal, Dr Charlotte, Chassain, Carine, Delaby, Laure, Vidal, Tiphaine, Jacques Lemaire, Pr Jean, Rieu, Isabelle, Durand, Elodie, Eusebio, Pr Alexandre, Jean-Philippe Azulay, Pr, Witjas, Dr Tatiana, Fluchère, Dr Frédérique, Grimaldi, Dr Stephan, Girard, Pr Nadine, Delfini, Marie, Carron, Dr Romain, Regis, Pr Jean, Spatola, Dr Giorgio, Magnaudet, Camille, Solène, Dr Ansquer, Isabelle, Dr Benatru, Olivier, Dr Colin, Houeto Jl, Pr, Remy, Pr Guillevin, Anne, Mrs Fradet, Manssouri, Mrs Anziza, Sophie, Mrs Blondeau, Philippe, Dr Richard, Philippe, Dr Cam, Philippe, Dr Page, Benoit, Pr Bataille, Emilie, Mrs Rabois, Annie, Mrs Guillemain, Sophie, Dr Drapier, Leh, Dr Frédérique, Bonnet, Dr Alexandre, Vérin, Pr Marc, Jean-Christophe Ferré, Dr, François Houvenaghel, Mr Jean, Haegelen, Pr Claire, Kestens, Mrs Francoise, Ory, Mrs Solenn, Burbaud, Pr Pierre, Damon-Perriere, Dr Nathalie, Meissner, Pr Wassilios, Tison, Pr Francois, Bannier, Dr Stéphanie, Krim, Dr Elsa, Guehl, Pr Dominique, Molinier-Blossier, Sandrine, Ollivier, Morgan, Lacoste, Marion, Auzou, Nicolas, Bonnet, Marie, Cuny, Pr Emmanuel, Engelhardt, Dr Julien, Branchard, Olivier, Huet, Clotilde, Blanchard, Julie, Olivier, Pr Rascol, Brefel Courbon, Dr Christine, Ory Magne, Dr Fabienne, Simonetta Moreau, Dr Marion, Arbus, Pr Christophe, Bonneville, Pr Fabrice, Albert Lotterie, Dr Jean, Sarrail, Marion, Scotto d’Apollonia, Charlotte, Chaynes, Pr Patrick, Caire, Pr François, Harroch, Estelle, Maltete, Pr David, Lefaucheur, Dr Romain, Fetter, Dr Damien, Magne, Dr Nicolas, Bioux, Mrs Sandrine, Loubeyre, Mrs Maud, Bliaux, Mrs Evangéline, Pouliquen, Mrs Dorothée, Derrey, Pr Stéphane, Vernon, Mrs Linda, Ziegler, Dr Frédéric, Anheim, Mathieu, Lagha-Boukbiza, Ouhaid, Tranchant, Christine, Gebus, Odile, Montaut, Solveig, Kremer, S., Longato, Nadine, Phillips, Clélie, Voirin, Jimmy, Santin, Marie des Neiges, Chaussemy, Dominique, Mengin, Dr Amaury, Giordana, Dr Caroline, Marsé, Dr Claire, Mondot, Lydiane, Giordana, Bruno, Kardous, Robin, Bailet, Bernadette, Joly, Héloise, Fontaine, Denys, Leplus, Dr Aurélie, Faustini, Amélie, Ferrier, Vanessa, Krystkowiak, Pr Pierre, Tir, Dr Mélissa, Jean-Marc Constans, Pr, Wannepain, Sandrine, Seling, Audrey, Lefranc, Dr Michel, Blin, Stéphanie, Schuler, Béatrice, Thobois, Pr Stephane, Danaila, Dr Teodor, Laurencin, Dr Chloe, Berthezene, Pr Yves, Ameli, Dr Roxana, Klinger, Helene, Polo, Dr Gustavo, Mertens, Patrick, Nunes, A., Metereau, Elise, Hopes, Dr Lucie, Frismand, Dr Solène, Schmitt, Dr Emmanuelle, Meyer, Mrs Mylène, Dillier, Mrs Céline, Colnat, Pr Sophie, Chatelain, Mrs Anne, Philippe Brandel, Dr Jean, Hubsch, Dr Cécile, Karsenti, Dr Patte, Lebouteux, Dr Marie, Ziegler, Dr Marc, Delmaire, Dr Christine, Savatowky, Dr Julien, Vrillac, Mrs Juliette, Nakache, Mrs Claire, D'Hardemare, Dr Vincent, Belamri, Mr Lhaouas, Mesnage, Dr Valérie, Bonnet, Dr Cécilia, Correa Lino, Dr Jarbas, Jr., Decrocq, Dr Camille, Boulin, Dr Anne, Barre, Mrs Inès, Manouvrier, Mrs Jordane, Gardel, Dr Bérénice, Jarraya, Pr Béchir, Ziz, Mrs Catherine, Prette, Mrs Lydie, Douzane, Mr Hassen, Gay, David, Bonicel, Robin, El Mountassir, Fouzia, Fischer, Clara, Mangin, Jean-François, Chupin, Marie, Cointepas, Yann, Accart, Bertrand, Gelé, Patrick, Fievet, Florine, Chabel, Matthieu, Derenaucourt, Virginie, Facon, Loïc, Njosse, Yanick Tchantchou, Deplanque, Dominique, Duhamel, Alain, Djemmane, Lynda, Duflot, Florence, Boussac, Mathilde, Arbus, Christophe, Colin, Olivier, Laurencin, Chloé, Eusebio, Alexandre, Corvol, Jean Christophe, Versace, Nathalie, Rascol, Olivier, Rousseau, Vanessa, Ory-Magne, Fabienne, Fabbri, Margherita, Rolland, Anne-Sophie, Jarraya, Béchir, Maltête, David, Drapier, Sophie, Marques, Ana-Raquel, Wirth, Thomas, Meyer, Mylène, Tir, Mélissa, Rouaud, Tiphaine, Devos, David, and Brefel-Courbon, Christine

Published
2022
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9. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

Author

Marsh, Ashley PL, Edwards, Timothy J, Galea, Charles, Cooper, Helen M, Engle, Elizabeth C, Jamuar, Saumya S, Méneret, Aurélie, Moutard, Marie‐Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer‐Smith, Megan, Trouillard, Oriane, de Villemeur, Thierry Billette, Walsh, Christopher A, Yu, Timothy W, Consortium, IRC5, Heron, Delphine, Sherr, Elliott H, Richards, Linda J, Depienne, Christel, Leventer, Richard J, and Lockhart, Paul J

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Digestive Diseases, Brain Disorders, Neurosciences, Pediatric, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Abnormalities, Multiple, Agenesis of Corpus Callosum, Amino Acid Sequence, Binding Sites, Conserved Sequence, Databases, Genetic, Genes, DCC, Genetic Association Studies, Humans, Magnetic Resonance Imaging, Models, Molecular, Mutation, Netrin-1, Phenotype, Protein Binding, Protein Conformation, Protein Domains, Syndrome, ACC, agenesis of the corpus callosum, axon guidance, DCC, developmental split brain syndrome, horizontal gaze palsy with progressive scoliosis, mirror movements, mutation, NTN1, IRC5 Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

The deleted in colorectal cancer (DCC) gene encodes the netrin-1 (NTN1) receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense, and predicted loss-of-function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum (ACC), or both. Biallelic, predicted loss-of-function DCC mutations cause developmental split brain syndrome (DSBS). Although the underlying molecular mechanisms leading to disease remain poorly understood, they are thought to stem from reduced or perturbed NTN1 signaling. Here, we review the 26 reported DCC mutations associated with abnormal CNS development in humans, including 14 missense and 12 predicted loss-of-function mutations, and discuss their associated clinical characteristics and diagnostic features. We provide an update on the observed genotype-phenotype relationships of congenital mirror movements, isolated ACC and DSBS, and correlate this to our current understanding of the biological function of DCC in the development of the CNS. All mutations and their associated phenotypes were deposited into a locus-specific LOVD (https://databases.lovd.nl/shared/genes/DCC).

Published
2018

10. Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia

Author

Wirth, Thomas, primary, Roze, Emmanuel, additional, Delvallée, Clarisse, additional, Trouillard, Oriane, additional, Drouot, Nathalie, additional, Damier, Philippe, additional, Boulay, Clotilde, additional, Bourgninaud, Marine, additional, Jegatheesan, Prasanthi, additional, Sangare, Aude, additional, Forlani, Sylvie, additional, Gaymard, Bertrand, additional, Hervochon, Remi, additional, Navarro, Vincent, additional, Calmels, Nadège, additional, Schalk, Audrey, additional, Tranchant, Christine, additional, Piton, Amélie, additional, Méneret, Aurélie, additional, and Anheim, Mathieu, additional

Published
2024
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11. Long-term effect of apomorphine infusion in advanced Parkinson’s disease: a real-life study

Author

Bruna Meira, Bertrand Degos, Elise Corsetti, Mohamed Doulazmi, Emeline Berthelot, Clara Virbel-Fleischman, Pauline Dodet, Aurélie Méneret, Louise-Laure Mariani, Cécile Delorme, Florence Cormier-Dequaire, David Bendetowicz, Nicolas Villain, Clément Tarrano, Lise Mantisi, Hélène Letrillart, Céline Louapre, Eavan McGovern, Yulia Worbe, David Grabli, Marie Vidailhet, Elodie Hainque, and Emmanuel Roze

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Long-term effects of continuous subcutaneous apomorphine infusion (CSAI) on health-related quality of life (HRQoL) and predictors of CSAI discontinuation are poorly known. Data from consecutive advanced Parkinson’s disease patients treated in routine care were retrospectively collected over 24 months after CSAI initiation, with a focus on the 39-item Parkinson’s disease questionnaire (PDQ-39). We determined predictors of CSAI discontinuation and HRQoL improvement using multiple regression analysis. Of the 110 subjects evaluated over a 2-year period, 35% discontinued CSAI. Of those who continued treatment, HRQoL remained stable with a sustained reduction in motor fluctuations. The observed effect on dyskinesias was mild and transient. Of note, patients with preexisting impulse control disorders showed an overall good tolerability. PDQ-39 was the only baseline predictor of HRQoL improvement after 2 years of treatment. The presence of dyskinesias, poorer psychological status, shorter disease duration, male sex, and worse OFF state were predictors of discontinuation. Best candidates for CSAI are patients with: (i) poor baseline HRQoL and (ii) marked motor fluctuations.

Published
2021
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12. Multiparametric characterization of white matter alterations in early stage Huntington disease

Author

Isaac M. Adanyeguh, Francesca Branzoli, Cécile Delorme, Aurélie Méneret, Marie-Lorraine Monin, Marie-Pierre Luton, Alexandra Durr, Emanoel Sabidussi, and Fanny Mochel

Subjects
Medicine, Science
Abstract

Abstract Huntington’s disease (HD) is a monogenic, fully penetrant neurodegenerative disorder. Widespread white matter damage affects the brain of patients with HD at very early stages of the disease. Fixel-based analysis (FBA) is a novel method to investigate the contribution of individual crossing fibers to the white matter damage and to detect possible alterations in both fiber density and fiber-bundle morphology. Diffusion-weighted magnetic resonance spectroscopy (DW-MRS), on the other hand, quantifies the motion of brain metabolites in vivo, thus enabling the investigation of microstructural alteration of specific cell populations. The aim of this study was to identify novel specific microstructural imaging markers of white matter degeneration in HD, by combining FBA and DW-MRS. Twenty patients at an early stage of HD and 20 healthy controls were recruited in a monocentric study. Using diffusion imaging we observed alterations to the brain microstructure and their morphology in patients with HD. Furthermore, FBA revealed specific fiber populations that were affected by the disease. Moreover, the mean diffusivity of the intra-axonal metabolite N-acetylaspartate, co-measured with N-acetylaspartylglutamate (tNAA), was significantly reduced in the corpus callosum of patients compared to controls. FBA and DW-MRS of tNAA provided more specific information about the biological mechanisms underlying HD and showed promise for early investigation of white matter degeneration in HD.

Published
2021
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13. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Author

Marsh, Ashley PL, Heron, Delphine, Edwards, Timothy J, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah EM, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin B, Mandel, Jean-Louis, Amor, David J, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H, Leventer, Richard J, Richards, Linda J, Lockhart, Paul J, and Depienne, Christel

Subjects
Biological Sciences, Genetics, Clinical Research, Pediatric, Abnormalities, Multiple, Agenesis of Corpus Callosum, Brain, Corpus Callosum, DCC Receptor, Developmental Disabilities, Family, Female, Humans, Male, Mutation, Nervous System Malformations, Neural Stem Cells, Penetrance, Phenotype, Receptors, Cell Surface, Tumor Suppressor Proteins, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

Published
2017

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

Author

Carneiro, Fábio, Saracino, Dario, Huin, Vincent, Clot, Fabienne, Delorme, Cécile, Méneret, Aurélie, Thobois, Stéphane, Cormier, Florence, Corvol, Jean Christophe, Lenglet, Timothée, Vidailhet, Marie, Habert, Marie-Odile, Gabelle, Audrey, Beaufils, Émilie, Mondon, Karl, Tir, Mélissa, Andriuta, Daniela, Brice, Alexis, Deramecourt, Vincent, and Le Ber, Isabelle

Published
2020
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17. Long-term effect of apomorphine infusion in advanced Parkinson’s disease: a real-life study

Author

Meira, Bruna, Degos, Bertrand, Corsetti, Elise, Doulazmi, Mohamed, Berthelot, Emeline, Virbel-Fleischman, Clara, Dodet, Pauline, Méneret, Aurélie, Mariani, Louise-Laure, Delorme, Cécile, Cormier-Dequaire, Florence, Bendetowicz, David, Villain, Nicolas, Tarrano, Clément, Mantisi, Lise, Letrillart, Hélène, Louapre, Céline, McGovern, Eavan, Worbe, Yulia, Grabli, David, Vidailhet, Marie, Hainque, Elodie, and Roze, Emmanuel

Published
2021
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18. Treatable Hyperkinetic Movement Disorders Not to Be Missed

Author

Aurélie Méneret, Béatrice Garcin, Solène Frismand, Annie Lannuzel, Louise-Laure Mariani, and Emmanuel Roze

Subjects
hyperkinetic, movement disorders, treatable, autoimmune, infectious, metabolic, Neurology. Diseases of the nervous system, RC346-429
Abstract

Hyperkinetic movement disorders are characterized by the presence of abnormal involuntary movements, comprising most notably dystonia, chorea, myoclonus, and tremor. Possible causes are numerous, including autoimmune disorders, infections of the central nervous system, metabolic disturbances, genetic diseases, drug-related causes and functional disorders, making the diagnostic process difficult for clinicians. Some diagnoses may be delayed without serious consequences, but diagnosis delays may prove detrimental in treatable disorders, ranging from functional disabilities, as in dopa-responsive dystonia, to death, as in Whipple's disease. In this review, we focus on treatable disorders that may present with prominent hyperkinetic movement disorders.

Published
2021
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20. KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

Author

Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, and Fanny Mochel

Subjects
KIF1C, dystonic tremor, cerebellar ataxia, hypomyelinating leukoencephalopathy, Diseases of the musculoskeletal system, RC925-935, Neurology. Diseases of the nervous system, RC346-429
Abstract

Background: KIF1C (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia. Case report: We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a hypomyelinating leukoencephalopathy. Whole exome sequencing identified a homozygous KIF1C variant in both patients. Discussion: KIF1C variants can manifest as a complex movement disorder with cerebellar ataxia and dystonic tremor. KIF1C variants may also cause a hypomyelinating leukoencephalopathy.

Published
2019
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23. Congenital mirror movements are associated with defective polymerisation of RAD51

Author

Trouillard, Oriane, primary, Dupaigne, Pauline, additional, Dunoyer, Margaux, additional, Doulazmi, Mohamed, additional, Herlin, Morten Krogh, additional, Frismand, Solène, additional, Riou, Audrey, additional, Legros, Véronique, additional, Chevreux, Guillaume, additional, Veaute, Xavier, additional, Busso, Didier, additional, Fouquet, Coralie, additional, Saint-Martin, Cécile, additional, Méneret, Aurélie, additional, Trembleau, Alain, additional, Dusart, Isabelle, additional, Dubacq, Caroline, additional, and Roze, Emmanuel, additional

Published
2023
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24. Scoping Review on ADCY5‐Related Movement Disorders

Author

Menon, Poornima Jayadev, primary, Nilles, Christelle, additional, Silveira‐Moriyama, Laura, additional, Yuan, Ruiyi, additional, de Gusmao, Claudio M., additional, Münchau, Alexander, additional, Carecchio, Miryam, additional, Grossman, Steve, additional, Grossman, Gay, additional, Méneret, Aurélie, additional, Roze, Emmanuel, additional, and Pringsheim, Tamara, additional

Published
2023
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25. Non‐motor symptoms and quality of life in patients with PRRT2 ‐related paroxysmal kinesigenic dyskinesia

Author

Ekmen, Asya, primary, Doulazmi, Mohamed, additional, Méneret, Aurélie, additional, Jegatheesan, Prasanthi, additional, Hervé, Anais, additional, Damier, Philippe, additional, Gras, Domitille, additional, Roubertie, Agathe, additional, Piard, Juliette, additional, Mutez, Eugenie, additional, Tarrano, Clément, additional, Welniarz, Quentin, additional, Vidailhet, Marie, additional, Worbe, Yulia, additional, Gallea, Cécile, additional, and Roze, Emmanuel, additional

Published
2023
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26. Fixel‐Based Analysis Reveals Whole‐Brain White Matter Abnormalities in Cervical Dystonia

Author

Zito, Giuseppe A., primary, Tarrano, Clément, additional, Ouarab, Salim, additional, Jegatheesan, Prasanthi, additional, Ekmen, Asya, additional, Béranger, Benoît, additional, Valabregue, Romain, additional, Hubsch, Cécile, additional, Sangla, Sophie, additional, Bonnet, Cécilia, additional, Delorme, Cécile, additional, Méneret, Aurélie, additional, Degos, Bertrand, additional, Bouquet, Floriane, additional, Apoil Brissard, Marion, additional, Vidailhet, Marie, additional, Hasboun, Dominique, additional, Worbe, Yulia, additional, Roze, Emmanuel, additional, and Gallea, Cécile, additional

Published
2023
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27. Congenital mirror movements are associated with defective polymerisation of RAD51

Author

Trouillard, Oriane, Dupaigne, Pauline, Dunoyer, Margaux, Doulazmi, Mohamed, Herlin, Morten Krogh, Frismand, Solène, Riou, Audrey, Legros, Véronique, Chevreux, Guillaume, Veaute, Xavier, Busso, Didier, Fouquet, Coralie, Saint-Martin, Cécile, Méneret, Aurélie, Trembleau, Alain, Dusart, Isabelle, Dubacq, Caroline, and Roze, Emmanuel

Abstract

BACKGROUND: Mirror movements are involuntary movements of one hand that mirror intentional movements of the other hand. Congenital mirror movements (CMM) is a rare genetic disorder with autosomal dominant inheritance, in which mirror movements are the main neurological manifestation. CMM is associated with an abnormal decussation of the corticospinal tract, a major motor tract for voluntary movements. RAD51 is known to play a key role in homologous recombination with a critical function in DNA repair. While RAD51 haploinsufficiency was first proposed to explain CMM, other mechanisms could be involved.METHODS: We performed Sanger sequencing of RAD51 in five newly identified CMM families to identify new pathogenic variants. We further investigated the expression of wild-type and mutant RAD51 in the patients' lymphoblasts at mRNA and protein levels. We then characterised the functions of RAD51 altered by non-truncating variants using biochemical approaches.RESULTS: The level of wild-type RAD51 protein was lower in the cells of all patients with CMM compared with their non-carrier relatives. The reduction was less pronounced in asymptomatic carriers. In vitro, mutant RAD51 proteins showed loss-of-function for polymerisation, DNA binding and strand exchange activity.CONCLUSION: Our study demonstrates that RAD51 haploinsufficiency, including loss-of-function of non-truncating variants, results in CMM. The incomplete penetrance likely results from post-transcriptional compensation. Changes in RAD51 levels and/or polymerisation properties could influence guidance of the corticospinal axons during development. Our findings open up new perspectives to understand the role of RAD51 in neurodevelopment.

Published
2023

29. Scoping review on <scp>ADCY5</scp> ‐related movement disorders

Author

Poornima Jayadev Menon, Christelle Nilles, Laura Silveira‐Moriyama, Ruiyi Yuan, Claudio M. de Gusmao, Alexander Münchau, Miryam Carecchio, Steve Grossman, Gay Grossman, Aurélie Méneret, Emmanuel Roze, and Tamara Pringsheim

Subjects
Neurology, Neurology (clinical)
Published
2023

30. Fixel‐Based Analysis Reveals Whole‐Brain White Matter Abnormalities in Cervical Dystonia

Author

Giuseppe A. Zito, Clément Tarrano, Salim Ouarab, Prasanthi Jegatheesan, Asya Ekmen, Benoît Béranger, Romain Valabregue, Cécile Hubsch, Sophie Sangla, Cécilia Bonnet, Cécile Delorme, Aurélie Méneret, Bertrand Degos, Floriane Bouquet, Marion Apoil Brissard, Marie Vidailhet, Dominique Hasboun, Yulia Worbe, Emmanuel Roze, and Cécile Gallea

Subjects
Neurology, Neurology (clinical)
Published
2023

31. A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood

Author

Elodie Hainque, Samantha Caillet, Sandrine Leroy, Constance Flamand-Roze, Isaac Adanyeguh, Fanny Charbonnier-Beaupel, Maryvonne Retail, Benjamin Le Toullec, Mariana Atencio, Sophie Rivaud-Péchoux, Vanessa Brochard, Florence Habarou, Chris Ottolenghi, Florence Cormier, Aurélie Méneret, Marta Ruiz, Mohamed Doulazmi, Anne Roubergue, Jean-Christophe Corvol, Marie Vidailhet, Fanny Mochel, and Emmanuel Roze

Subjects
Alternating hemiplegia of childhood, Triheptanoin, Crossover trial, Medicine
Abstract

Abstract Background Based on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations. Methods We conducted a randomized, double-blind, placebo-controlled crossover study of triheptanoin, at a target dose corresponding to 30% of daily calorie intake, in ten patients with alternating hemiplegia of childhood due to ATP1A3 mutations. Each treatment period consisted of a 12-week fixed-dose phase, separated by a 4-week washout period. The primary outcome was the total number of paroxysmal events. Secondary outcomes included the number of paroxysmal motor-epileptic events; a composite score taking into account the number, severity and duration of paroxysmal events; interictal neurological manifestations; the clinical global impression-improvement scale (CGI-I); and safety parameters. The paired non-parametric Wilcoxon test was used to analyze treatment effects. Results In an intention-to-treat analysis, triheptanoin failed to reduce the total number of paroxysmal events (p = 0.646), including motor-epileptic events (p = 0.585), or the composite score (p = 0.059). CGI-I score did not differ between triheptanoin and placebo periods. Triheptanoin was well tolerated. Conclusions Triheptanoin does not prevent paroxysmal events in Alternating hemiplegia of childhood. We show the feasibility of a randomized placebo-controlled trial in this setting. Trial registration The study has been registered with clinicaltrials.gov ( NCT002408354 ) the 03/24/2015.

Published
2017
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32. Non cell-autonomous role of DCC in the guidance of the corticospinal tract at the midline

Author

Quentin Welniarz, Marie-Pierre Morel, Oriane Pourchet, Cécile Gallea, Jean-Charles Lamy, Massimo Cincotta, Mohamed Doulazmi, Morgane Belle, Aurélie Méneret, Oriane Trouillard, Marta Ruiz, Vanessa Brochard, Sabine Meunier, Alain Trembleau, Marie Vidailhet, Alain Chédotal, Isabelle Dusart, and Emmanuel Roze

Subjects
Medicine, Science
Abstract

Abstract DCC, a NETRIN-1 receptor, is considered as a cell-autonomous regulator for midline guidance of many commissural populations in the central nervous system. The corticospinal tract (CST), the principal motor pathway for voluntary movements, crosses the anatomic midline at the pyramidal decussation. CST fails to cross the midline in Kanga mice expressing a truncated DCC protein. Humans with heterozygous DCC mutations have congenital mirror movements (CMM). As CMM has been associated, in some cases, with malformations of the pyramidal decussation, DCC might also be involved in this process in human. Here, we investigated the role of DCC in CST midline crossing both in human and mice. First, we demonstrate by multimodal approaches, that patients with CMM due to DCC mutations have an increased proportion of ipsilateral CST projections. Second, we show that in contrast to Kanga mice, the anatomy of the CST is not altered in mice with a deletion of DCC in the CST. Altogether, these results indicate that DCC controls CST midline crossing in both humans and mice, and that this process is non cell-autonomous in mice. Our data unravel a new level of complexity in the role of DCC in CST guidance at the midline.

Published
2017
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35. Anti-MOG associated disease with intracranial hypertension after COVID-19 vaccination

Author

Lina Jeantin, Adèle Hesters, Dorine Fournier, Bénédicte Lebrun-Vignes, Aurélie Méneret, Caroline Papeix, Valérie Touitou, and Elisabeth Maillart

Subjects
COVID-19 Vaccines, Neurology, Vaccination, COVID-19, Humans, Myelin-Oligodendrocyte Glycoprotein, Neurology (clinical), Intracranial Hypertension, Autoantibodies
Published
2022

36. Efficacy of Caffeine in <scp>ADCY5</scp> ‐Related Dyskinesia: A Retrospective Study

Author

Aurélie Méneret, Shekeeb S. Mohammad, Laura Cif, Diane Doummar, Claudio DeGusmao, Mathieu Anheim, Magalie Barth, Philippe Damier, Nathalie Demonceau, Jennifer Friedman, Cécile Gallea, Domitille Gras, Juliana Gurgel‐Giannetti, Emily A. Innes, Ján Necpál, Florence Riant, Sandrine Sagnes, Catherine Sarret, Yury Seliverstov, Vijayashankar Paramanandam, Kuldeep Shetty, Christine Tranchant, Mohamed Doulazmi, Marie Vidailhet, Tamara Pringsheim, Emmanuel Roze, CHU Pitié-Salpêtrière [AP-HP], 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), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre d’Investigation Clinique de Nantes (CIC Nantes), Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre hospitalier universitaire de Nantes (CHU Nantes), University of California [San Diego] (UC San Diego), University of California (UC), AP-HP Hôpital universitaire Robert-Debré [Paris], Hôpitaux Universitaire Saint-Louis, Lariboisière, Fernand-Widal, Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), Observatoire National Français des patients atteints de DMFSH (FSHD registry - France), Institut de Biologie Paris Seine (IBPS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Dyskinesias, Movement Disorders, Neurology, Caffeine, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Humans, Neurology (clinical), Child, Adenylyl Cyclases, Retrospective Studies
Abstract

ADCY5-related dyskinesia is characterized by early-onset movement disorders. There is currently no validated treatment, but anecdotal clinical reports and biological hypotheses suggest efficacy of caffeine.The aim is to obtain further insight into the efficacy and safety of caffeine in patients with ADCY5-related dyskinesia.A retrospective study was conducted worldwide in 30 patients with a proven ADCY5 mutation who had tried or were taking caffeine for dyskinesia. Disease characteristics and treatment responses were assessed through a questionnaire.Caffeine was overall well tolerated, even in children, and 87% of patients reported a clear improvement. Caffeine reduced the frequency and duration of paroxysmal movement disorders but also improved baseline movement disorders and some other motor and nonmotor features, with consistent quality-of-life improvement. Three patients reported worsening.Our findings suggest that caffeine should be considered as a first-line therapeutic option in ADCY5-related dyskinesia. © 2022 International Parkinson and Movement Disorder Society.

Published
2022

37. Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Author

Méreaux, Jean-Loup, primary, Davoine, Claire-Sophie, additional, Coutelier, Marie, additional, Guillot-Noël, Léna, additional, Castrioto, Anna, additional, Charles, Perrine, additional, Coarelli, Giulia, additional, Ewenczyk, Claire, additional, Klebe, Stephan, additional, Heinzmann, Anna, additional, Méneret, Aurélie, additional, Fauret-Amsellem, Anne-Laure, additional, de Sainte Agathe, Jean-Madeleine, additional, Brice, Alexis, additional, and Durr, Alexandra, additional

Published
2023
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38. Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Author

Jean-Loup Méreaux, Claire-Sophie Davoine, Marie Coutelier, Léna Guillot-Noël, Anna Castrioto, Perrine Charles, Giulia Coarelli, Claire Ewenczyk, Stephan Klebe, Anna Heinzmann, Aurélie Méneret, Anne-Laure Fauret-Amsellem, Jean-Madeleine de Sainte Agathe, Alexis Brice, and Alexandra Durr

Subjects
Genetics, Genetics (clinical)
Abstract

Usually, molecular diagnosis of spinocerebellar ataxia is based on a step-by-step approach with targeted sizing of four repeat expansions accounting for most dominant cases, then targeted sequencing of other genes. Nowadays, genome sequencing allows detection of most pathogenic variants in a single step. The ExpansionHunter tool can detect expansions in short-read genome sequencing data. Recent studies have shown that ExpansionHunter can also be used to identify repeat expansions in exome sequencing data. We tested ExpansionHunter on spinocerebellar ataxia exomes in a research context as a second-line analysis, after exclusion of main CAG repeat expansions in half of the probands. First, we confirmed the detection of expansions in seven known expansion carriers and then, after targeted analysis ofATXN1,2,3and7,CACNA1A,TBP,ATN1,NOP56,ARandHTTin 498 exomes, we found 22 additional pathogenic expansions. Comparison with capillary migration sizing in 247 individuals and confirmation of all expanded alleles detected by ExpansionHunter demonstrated that for these loci, sensitivity and specificity reached 100%. ExpansionHunter detected but underestimated the repeat size for larger expansions, and the normal alleles distribution at each locus should be taken into account to detect expansions. Exome combined with ExpansionHunter is reliable to detect repeat expansions in selected loci as first-line analysis in spinocerebellar ataxia.

Published
2022

39. Personality Assessment with Temperament and Character Inventory in Parkinson's Disease

Author

Mathilde Boussac, Christophe Arbus, Olivier Colin, Chloé Laurencin, Alexandre Eusebio, Elodie Hainque, Jean Christophe Corvol, Nathalie Versace, Olivier Rascol, Vanessa Rousseau, Estelle Harroch, Fabienne Ory-Magne, Margherita Fabbri, Caroline Moreau, Anne-Sophie Rolland, Béchir Jarraya, David Maltête, Sophie Drapier, Ana-Raquel Marques, Nicolas Auzou, Thomas Wirth, Mylène Meyer, Bruno Giordana, Mélissa Tir, Tiphaine Rouaud, David Devos, Christine Brefel-Courbon, Pr Luc Defebvre, Dr Nicolas Carriere, Dr Guillaume Grolez, Dr Guillaume Baille, Dr Kreisler, Pr Jean-Pierre Pruvo, Pr Leclerc, Dr Renaud Lopes, Dr Romain Viard, Dr Gregory Kuchcinski, Mr Julien Dumont, Pr Kathy Dujardin, Mme M. Delliaux, Mrs M. Brion, Dr Gustavo Touzet, Pr Nicolas Reyns, Pr Arnaud Delval, Mrs Valerie Santraine, Mrs Marie Pleuvret, Mrs Nolwen Dautrevaux, Mr Victor Laugeais, Thavarak Ouk, Camille Potey, Celine Leclercq, Elise Gers, Jean-Christophe Corvol, null Marie-Vidailhet, Marie-Laure Welter, Lucette Lacomblez, David Grabli, Emmanuel Roze, Yulia Worbe, Cécile Delorme, Hana You, Jonas Ihle, Raquel Guimeraes-Costa, Florence Cormier-Dequaire, Aurélie Méneret, Andréas Hartmann, Louise-Laure Mariani, Stéphane Lehericy, Virginie Czernecki, Fanny Pineau, Frédérique Bozon, Camille Huiban, Eve Benchetrit, Carine Karachi, Soledad Navarro, Philippe Cornu, Arlette Welaratne, Carole Dongmo-Kenfack, Lise Mantisi, Nathalie Jarry, Sophie Aix, Carine Lefort, Dr Tiphaine Rouaud, Pr Philippe Damier, Pr Pascal Derkinderen, Dr Anne-Gaelle Corbille, Dr Elisabeth Calvier-Auffray, Mrs Laetitia Rocher, Mrs Anne-Laure Deruet, Dr Raoul Sylvie, Dr Roualdes Vincent, Mrs Le Dily Séverine, Dr Ana Marques, Dr Berangere Debilly, Pr Franck Durif, Dr Philippe Derost, Dr Charlotte Beal, Carine Chassain, Laure Delaby, Tiphaine Vidal, Pr Jean Jacques Lemaire, Isabelle Rieu, Elodie Durand, Pr Alexandre Eusebio, Pr Jean-Philippe Azulay, Dr Tatiana Witjas, Dr Frédérique Fluchère, Dr Stephan Grimaldi, Pr Nadine Girard, Marie Delfini, Dr Romain Carron, Pr Jean Regis, Dr Giorgio Spatola, Camille Magnaudet, Dr Ansquer Solène, Dr Benatru Isabelle, Dr Colin Olivier, Pr Houeto Jl, Pr Guillevin Remy, Mrs Fradet Anne, Mrs Anziza Manssouri, Mrs Blondeau Sophie, Dr Richard Philippe, Dr Cam Philippe, Dr Page Philippe, Pr Bataille Benoit, Mrs Rabois Emilie, Mrs Guillemain Annie, Dr Drapier Sophie, Dr Frédérique Leh, Dr Alexandre Bonnet, Pr Marc Vérin, Dr Jean-Christophe Ferré, Mr Jean François Houvenaghel, Pr Claire Haegelen, Mrs Francoise Kestens, Mrs Solenn Ory, Pr Pierre Burbaud, Dr Nathalie Damon-Perriere, Pr Wassilios Meissner, Pr Francois Tison, Dr Stéphanie Bannier, Dr Elsa Krim, Pr Dominique Guehl, Sandrine Molinier-Blossier, Morgan Ollivier, Marion Lacoste, Marie Bonnet, Pr Emmanuel Cuny, Dr Julien Engelhardt, Olivier Branchard, Clotilde Huet, Julie Blanchard, Pr Rascol Olivier, Dr Christine Brefel Courbon, Dr Fabienne Ory Magne, Dr Marion Simonetta Moreau, Pr Christophe Arbus, Pr Fabrice Bonneville, Dr Jean Albert Lotterie, Marion Sarrail, Charlotte Scotto d’Apollonia, Pr Patrick Chaynes, Pr François Caire, Pr David Maltete, Dr Romain Lefaucheur, Dr Damien Fetter, Dr Nicolas Magne, Mrs Sandrine Bioux, Mrs Maud Loubeyre, Mrs Evangéline Bliaux, Mrs Dorothée Pouliquen, Pr Stéphane Derrey, Mrs Linda Vernon, Dr Frédéric Ziegler, Mathieu Anheim, Ouhaid Lagha-Boukbiza, Christine Tranchant, Odile Gebus, Solveig Montaut, S. Kremer, Nadine Longato, Clélie Phillips, Jimmy Voirin, Marie des Neiges Santin, Dominique Chaussemy, Dr Amaury Mengin, Dr Caroline Giordana, Dr Claire Marsé, Lydiane Mondot, Robin Kardous, Bernadette Bailet, Héloise Joly, Denys Fontaine, Dr Aurélie Leplus, Amélie Faustini, Vanessa Ferrier, Pr Pierre Krystkowiak, Dr Mélissa Tir, Pr Jean-Marc Constans, Sandrine Wannepain, Audrey Seling, Dr Michel Lefranc, Stéphanie Blin, Béatrice Schuler, Pr Stephane Thobois, Dr Teodor Danaila, Dr Chloe Laurencin, Pr Yves Berthezene, Dr Roxana Ameli, Helene Klinger, Dr Gustavo Polo, Patrick Mertens, A. Nunes, Elise Metereau, Dr Lucie Hopes, Dr Solène Frismand, Dr Emmanuelle Schmitt, Mrs Mylène Meyer, Mrs Céline Dillier, Pr Sophie Colnat, Mrs Anne Chatelain, Dr Jean- Philippe Brandel, Dr Cécile Hubsch, Dr Patte Karsenti, Dr Marie Lebouteux, Dr Marc Ziegler, Dr Christine Delmaire, Dr Julien Savatowky, Mrs Juliette Vrillac, Mrs Claire Nakache, Dr Vincent D'Hardemare, Mr Lhaouas Belamri, Dr Valérie Mesnage, Dr Cécilia Bonnet, Dr Jarbas Correa Lino, Dr Camille Decrocq, Dr Anne Boulin, Mrs Inès Barre, Mrs Jordane Manouvrier, Dr Bérénice Gardel, Pr Béchir Jarraya, Mrs Catherine Ziz, Mrs Lydie Prette, Mr Hassen Douzane, David Gay, Robin Bonicel, Fouzia El Mountassir, Clara Fischer, Jean-François Mangin, Marie Chupin, Yann Cointepas, Bertrand Accart, Patrick Gelé, Florine Fievet, Matthieu Chabel, Virginie Derenaucourt, Loïc Facon, Yanick Tchantchou Njosse, Dominique Deplanque, Alain Duhamel, Lynda Djemmane, Florence Duflot, Toulouse Neuro Imaging Center (ToNIC), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier de Brive-la-Gaillarde (CH Brive), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Lyon, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), CHU Marseille, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), 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), Hôpital de la Fondation Ophtalmologique Adolphe de Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre d’Excellence en Maladies Neurodégénératives (NeuroToul), CIC - Biotherapie - Toulouse, Institut National de la Santé et de la Recherche Médicale (INSERM), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Lille, Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Hôpital Foch [Suresnes], Neuroimagerie cognitive - Psychologie cognitive expérimentale (UNICOG-U992), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Différenciation et communication neuronale et neuroendocrine (DC2N), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA), Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), CHU Bordeaux [Bordeaux], Les Hôpitaux Universitaires de Strasbourg (HUS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Amiens-Picardie, Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Centre hospitalier universitaire de Nantes (CHU Nantes), This work was supported by the France Parkinson charity and French Ministry of Health (PHRC national 2012). This is an ancillary study to Protocol ID: 2013-A00193-42, ClinicalTrials.gov: NCT02360683., Centre Hospitalier Brive-la-Gaillarde, and Hôpital P.P.-Riquet

Subjects
Personality Inventory, Temperament and character inventory, Parkinson's disease, Parkinson Disease, Personality Assessment, Antidepressive Agents, Neurology, Anti-Anxiety Agents, Fluctuating PD patients, Quality of Life, Humans, Neurology (clinical), Geriatrics and Gerontology, Temperament, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Personality
Abstract

International audience; INTRODUCTION: There is a growing interest in personality evaluation in Parkinson's disease (PD), following observations of specific temperaments in PD patients. Therefore, our objective was to evaluate personality dimensions from the Temperament and Character Inventory (TCI) in a cohort of fluctuating PD patients considered for deep brain stimulation. METHODS: Fluctuating PD patients from the PREDISTIM cohort were included. Description of TCI dimensions and comparison with a French normative cohort were performed. Pearson correlations between TCI dimensions and motor, behavioral and cognitive variables were investigated. Structural and internal consistency analysis of the TCI were further assessed. RESULTS: The 570 PD patients presented significant higher scores in Harm Avoidance, Reward Dependence, Persistence, Self-Directedness and Cooperativeness and significant lower scores in Self-Transcendence compared to the French normative cohort; only Novelty Seeking scores were not different. Harm Avoidance and Self-directedness scores were correlated with PDQ-39 total, HAMD, HAMA scores, and anxiolytic/antidepressant treatment. Novelty Seeking scores were correlated with impulsivity. Pearson correlations between TCI dimensions, principal component analysis of TCI sub-dimensions and Cronbach's alpha coefficients showed adequate psychometric proprieties. CONCLUSION: The TCI seems to be an adequate tool to evaluate personality dimensions in PD with good structural and internal consistencies. These fluctuating PD patients also have specific personality dimensions compared to normative French population. Moreover, Harm Avoidance and Self-Directedness scores are associated with anxio-depressive state or quality of life and, and Novelty Seeking scores with impulsivity.

Published
2022

41. Cover Image, Volume 39, Issue 1

Author

Marsh, Ashley P. L., Edwards, Timothy J., Galea, Charles, Cooper, Helen M., Engle, Elizabeth C., Jamuar, Saumya S., Méneret, Aurélie, Moutard, Marie‐Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer‐Smith, Megan, Trouillard, Oriane, Billette de Villemeur, Thierry, Walsh, Christopher A., Yu, Timothy W., Heron, Delphine, Sherr, Elliott H., Richards, Linda J., Depienne, Christel, Leventer, Richard J., and Lockhart, Paul J.

Published
2018
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42. A recessive ataxia diagnosis algorithm for the next generation sequencing era

Author

Renaud, Mathilde, Tranchant, Christine, Martin, Juan Vicente Torres, Mochel, Fanny, Synofzik, Matthis, van de Warrenburg, Bart, Pandolfo, Massimo, Koenig, Michel, Kolb, Stefan A., Anheim, Mathieu, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A., Bompaire, Flavie, Bonneau, Dominique, Bonneau, Patrizia, Boycott, Kym M., Bras, Jose, Brais, Bernard, Brigatti, Karlla W., Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Dotti, Maria Teresa, El‐Euch, Ghada, Elmalik, Salah A., Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin‐Baer, Sharon, Heimdal, Ketil Riddervold, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu‐Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, Lu, Chin‐Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A., Sousa, Sergio, Stanier, Philip, Stoppa‐Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I., Yahalom, Gilad, Yoon, Grace, and Young, Millie

Published
2017
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43. Mutations in the netrin-1 gene cause congenital mirror movements

Author

Méneret, Aurélie, Franz, Elizabeth A., Trouillard, Oriane, Oliver, Thomas C., Zagar, Yvrick, Robertson, Stephen P., Welniarz, Quentin, Gardner, R.J. MacKinlay, Gallea, Cécile, Srour, Myriam, Depienne, Christel, Jasoni, Christine L., Dubacq, Caroline, Riant, Florence, Lamy, Jean-Charles, Morel, Marie-Pierre, Guérois, Raphael, Andreani, Jessica, Fouquet, Coralie, Doulazmi, Mohamed, Vidailhet, Marie, Rouleau, Guy A., Brice, Alexis, Chédotal, Alain, Dusart, Isabelle, Roze, Emmanuel, and Markie, David

Published
2017
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44. Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

Author

Oriane Trouillard, Jeanette Koht, Thorsten Gerstner, Siri Moland, Christel Depienne, Isabelle Dusart, Aurélie Méneret, Marta Ruiz, Caroline Dubacq, and Emmanuel Roze

Subjects
Diseases of the musculoskeletal system, RC925-935, Neurology. Diseases of the nervous system, RC346-429
Abstract

Background: Autosomal dominant congenital mirror movements (CMM) is a neurodevelopmental disorder characterized by early onset involuntary movements of one side of the body that mirror intentional movements on the contralateral side; these persist throughout life in the absence of other neurological symptoms. The main culprit genes responsible for this condition are RAD51 and DCC. This condition has only been reported in a few families, and the molecular mechanisms linking RAD51 mutations and mirror movements (MM) are poorly understood. Methods: We collected demographic, clinical, and genetic data of a new family with CMM due to a truncating mutation of RAD51. We reviewed the literature to identify all reported patients with CMM due to RAD51 mutations. Results: We identified a heterozygous nonsense mutation c.760C>T (p.Arg254∗) in eight subjects: four with obvious and disabling MM, and four with a mild phenotype. Including our new family, we identified 32 patients from 6 families with CMM linked to RAD51 variants. Discussion: Our findings further support the involvement of RAD51 in CMM pathogenesis. Possible molecular mechanisms involved in CMM pathogenesis are discussed.

Published
2016
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45. Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

Author

Camille Giron, Emmanuel Roze, Bertrand Degos, Aurélie Méneret, Claude Jardel, Annie Lannuzel, and Fanny Mochel

Subjects
MEGDEL syndrome, SERAC1, Adult, Dystonia, Leigh syndrome, Neurology, Diseases of the musculoskeletal system, RC925-935, Neurology. Diseases of the nervous system, RC346-429
Abstract

Background: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. Phenomenology Shown: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome. Educational Value: Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood.

Published
2018
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46. Highlighting the Dystonic Phenotype Related to GNAO1

Author

Wirth, Thomas, primary, Garone, Giacomo, additional, Kurian, Manju A., additional, Piton, Amélie, additional, Millan, Francisca, additional, Telegrafi, Aida, additional, Drouot, Nathalie, additional, Rudolf, Gabrielle, additional, Chelly, Jamel, additional, Marks, Warren, additional, Burglen, Lydie, additional, Demailly, Diane, additional, Coubes, Phillipe, additional, Castro‐Jimenez, Mayte, additional, Joriot, Sylvie, additional, Ghoumid, Jamal, additional, Belin, Jérémie, additional, Faucheux, Jean‐Marc, additional, Blumkin, Lubov, additional, Hull, Mariam, additional, Parnes, Mered, additional, Ravelli, Claudia, additional, Poulen, Gaëtan, additional, Calmels, Nadège, additional, Nemeth, Andrea H., additional, Smith, Martin, additional, Barnicoat, Angela, additional, Ewenczyk, Claire, additional, Méneret, Aurélie, additional, Roze, Emmanuel, additional, Keren, Boris, additional, Mignot, Cyril, additional, Beroud, Christophe, additional, Acosta, Fernando, additional, Nowak, Catherine, additional, Wilson, William G., additional, Steel, Dora, additional, Capuano, Alessandro, additional, Vidailhet, Marie, additional, Lin, Jean‐Pierre, additional, Tranchant, Christine, additional, Cif, Laura, additional, Doummar, Diane, additional, and Anheim, Mathieu, additional

Published
2022
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47. De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia

Author

Wirth, Thomas, primary, Méneret, Aurélie, additional, Drouot, Nathalie, additional, Rudolf, Gabrielle, additional, Lagha Boukbiza, Ouhaid, additional, Chelly, Jamel, additional, Tranchant, Christine, additional, Piton, Amélie, additional, Roze, Emmanuel, additional, and Anheim, Mathieu, additional

Published
2022
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48. Highlighting the Dystonic Phenotype Related to GNAO1

Author

Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren Marks, Lydie Burglen, Diane Demailly, Phillipe Coubes, Mayte Castro‐Jimenez, Sylvie Joriot, Jamal Ghoumid, Jérémie Belin, Jean‐Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaëtan Poulen, Nadège Calmels, Andrea H. Nemeth, Martin Smith, Angela Barnicoat, Claire Ewenczyk, Aurélie Méneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Beroud, Fernando Acosta, Catherine Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean‐Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, Dystonia, Movement Disorders, Phenotype, Neurology, Parkinsonian Disorders, Dystonic Disorders, Humans, Neurology (clinical), GTP-Binding Protein alpha Subunits, Gi-Go
Abstract

Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders.We included patients diagnosed with GNAO1-related movement disorders of delayed onset (2 years). Patients experiencing either severe or profound intellectual disability or early-onset epileptic encephalopathy were excluded.Twenty-four patients and 1 asymptomatic subject were included. All patients showed dystonia as prominent movement disorder. Dystonia was focal in 1, segmental in 6, multifocal in 4, and generalized in 13. Six patients showed adolescence or adulthood-onset dystonia. Seven patients presented with parkinsonism and 3 with myoclonus. Dysarthria was observed in 19 patients. Mild and moderate ID were present in 10 and 2 patients, respectively.We highlighted a mild GNAO1-related phenotype, including adolescent-onset dystonia, broadening the clinical spectrum of this condition. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Published
2022

49. De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia

Author

Thomas Wirth, Aurélie Méneret, Nathalie Drouot, Gabrielle Rudolf, Ouhaid Lagha Boukbiza, Jamel Chelly, Christine Tranchant, Amélie Piton, Emmanuel Roze, and Mathieu Anheim

Subjects
Dystonia, Neurology, Chorea, Mutation, Humans, Neurology (clinical)
Published
2022

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