Professor of Neurology, Sorbonne University
Consultant neurologist at the Movement Disorders Clinic, Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France
I have been deeply involved for more than 15 years, in the clinical care of movement disorders patients at the movement disorders clinic at the Salpêtrière hospital in Paris. At this very place, I also devised a program aimed at optimizing the transition of children and young adults living with chronic neurological illness from pediatric to adult departments.
My main research areas of interest are neurodevelopmental movement disorders with a focus on dystonia and mirror movements. I study the clinical aspects, genetic causes and neurophysiological mechanisms underpinning these disorders. I am also strongly involved in the study of experimental therapeutics and pilot studies to test them. I have published 265 peer-review papers mostly on these topics.I received an award from the French Neurological Society for my work on myoclonus-dystonia, the “pilot project” award from the Dystonia Coalition for a project studying the role of the cerebellum in focal dystonia and the Breughel award for a project studying the agentivity in dystonic patients.
Finally, I have a keen interest in teaching and have developed an innovative simulation-based medical education program (“The move”) to teach neurology semiology to medical students attending Sorbonne University in Paris. This program has already been implemented in other French and European Universities. It received the excellence certificate of the PEPS jury of the French ministry of Education.
For ten years, I organize and host the five teaching video sessions of French Movement Disorders Society. More recently, I became the chair of the pediatric special interest group of the International Parkinson and Movement Disorders Society and started the monthly international virtual pediatric video rounds of the movement disorders society together with my colleagues T Pringsheim (Canada) and M Kurian (UK).
Training and Faculty Appointments
1996 - 2002: Residency in Neurology and MD student, Assistance Publique - Hôpitaux de Paris
2002 - 2007: PhD student, CNRS - UMR7102
2004 - 2008: Fellowship in Neurology, Assistance publique-hopitaux de Paris
2008 - 2010: Medical Coordinator of the Centre for Clinical Research, Salpêtrière hospital, Paris, France
2010 - present: Consultant Neurologist, Movement Disorders Clinic, dep. Neurology, Salpêtrière Hospital, Paris
2010 - present: Researcher at the Brain and Spine Institute, Salpêtrière hospital, Paris
2015 - present: Professor of Neurology, Faculty of Medicine of Sorbonne University, Paris
2012: HDR, University Sorbonne University, Paris, France (Neuroscience)
2007: PhD, University Sorbonne University, Paris, France (Neuroscience)
2003: MD, University Sorbonne University, Paris, France (Neurology)
2001: Masters, University Descartes University, Paris, France (Neuroscience)
I. Mirror movements
Pourchet O, Morel MP, Welniarz Q, Sarrazin N, Marti F, Heck N, Galléa C, Doulazmi M, Roig-Puiggros S, Moreno-Bravo JA, Vidailhet M, Trembleau A, FaureP, Chedotal A, Roze E*, Dusart I*. Lossof floor plate Netrin-1 impairs midline crossing of corticospinal axons andleads to mirror movements. Cell Reports 2021;34:108654
Méneret A, Franz EA, Trouillard O, OliverTC, Zagar Y, Robertson SP, Welniarz Q, MacKinlay Gardner RJ, GalleaC, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F,Lamy JC, Morel MP, Guérois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M,Rouleau GA, Brice A, Chédotal A, Dusart I, RozeE*, Markie D*. Mutations in the netrin-1 gene causecongenital mirror movements. Journal of Clinical Investigation 2017;127:3923-36
Marsh APL, Heron D, Edwards TJ,Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P,Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V,Mandelstam SA, Mcgillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, PaolinoA, Pope K, Riant F, Robinson G, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A,Rouleau G, Attié-Bitach T, Delatycki MB, MandelJL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, SherrEH, Leventer RJ, Richards LJ, LockhartPJ, DepienneC. Mutations in DCC cause isolated Agenesis of the Corpus Callosum withincomplete penetrance. Nature Genetics 2017;49:511-514
Méneret A, Depienne C, Riant F,Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, LagrouaI, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, DeMeirleir L, Espay AJ, Fiori S, Klebe S, Quélin C, Rudnik-Schöneborn S, PlessisG, Dale RC, Sklower Brooks S, Dziezyc K, Pollak P, Golmard JL, Vidailhet M,Brice A, Roze E. Congenital mirrormovements: mutational analysis of RAD51and DCC in 26 cases. Neurology2014; 3;82:1999-2002
Gallea C, Popa T, Hubsch C, Valabregue R, Brochard V,Kundu P, Schmitt B, Bardinet E, Bertasi E, Flamand-roze C, Alexandre NPA,Delmaire C, Meneret A, Depienne C, Poupon C, Hertz-Pannier L, Cincotta M,Vidailhet M, Lehericy S, Meunier S, RozeE. RAD51 deficiency disrupts the corticospinal lateralization of the motorcontrol. Brain 2013;136:3333-46
DepienneC, Bouteiller D, Méneret A, Billot S, Groppa S, Klebbe S, Charbonnier-BeaupelF, Saraiva JP, Brueggemann N, Corvol JC, Bhatia K, Cincotta M, Brochard V,Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, WehrleR, Vidailhet M, Klein C, Brice A, Roze E.RAD51 Haploinsufficiency causes congenital mirror movements in Humans. Am JHum Genet 2012;90:301-307
Depienne C, Cincotta M, Billot S, Bouteiller D, Groppa S,Brochard V, Flamand C, Hubsch C, Meunier S, Giovannelli F, Klebe S, Corvol JC,Vidailhet M, Brice A, Roze E. Anovel DCC mutation and genetic heterogeneity in congenital mirror movements. Neurology 2011;76:260-4
Tarrano C, Wattiez N, Delorme C, McGovern E, Brochard V, Thobois S,Tranchant C, Grabli D, Degos B, Corvol JC, Pedespan JM, Krystkoviak P, HouettoJL, Degardin A, Defebvre L, Valabrègue R, Vidailhet M, Pouget P*, Roze E*, Worbe Y*. Visual sensory processingis altered in myoclonus-dystonia. Movement Disorders 2020;35:151-160
KosutzkaZ, Tisch S, Bonnet C, Ruiz M, Hainque E, Welter ML, Viallet F, Karachi C,Navarro S, Jahanshahi M, Rivaud-Pechoux S, Grabli D, Roze E, Vidailhet M. Long-termPallidal Stimulation Improves Motor Features in Myoclonus-Dystonia and EnhancesSocial Adjustment. Movement Disorders 2019;34:87-94
Roze E, Lang AE, VidailhetM. Myoclonus-dystonia: classification, phenomenology, pathogenesis andtreatment. Current Opinion in Neurology 2018;31:484-490
Hainque E, Vidailhet M, Cozic N,Charbonnier-Beaupel F, Thobois S, Tranchant C, Brochard V, Glibert G, DrapierS, Mutez E, Doe De Maindreville A, Lebouvier T, Hubsch C, Degos B, Bonnet C,Grabli D, Legrand AP, Méneret A, Azulay JP, Bissery A, Zahr N, Clot F, MalletA, Dupont S, Apartis E, Corvol JC, RozeE. A randomized, controlled, double-blind, crossover trial of zonisamide inmyoclonus-dystonia. Neurology 2016;86:1729-35
Popa T, Milani P, Richard A, HubschC, Brochard V, Tranchant C, Sadnicka A, Rothwell J, Vidailhet M, Meunier S, Roze E. The neurophysiologcal featuresof myoclonus dystonia and differentiation from other dystonias. JAMANeurology 2014;71:612-9
HubschC, Vidailhet M, Rivaud-Péchoux S, Pouget P, Brochard V, Degos B, Pelisson D,Golmard JL, Gaymard B, Roze E. Impairedsaccadic adaptation in DYT11 dystonia. JNNP 2011;82:1103-6
RozeE, Apartis E, Clot F, Dorison N, Thobois S,Guyant-Marechal L, Tranchant C, Damier P, Doummar D, Bahi-Buisson N,André-Obadia N, Maltete D, Echaniz-Laguna A, Pereon Y, Beaugendre Y, Dupont S,De Greslan T, Jedynak CP, Ponsot G, Dussaule JC, Brice A, Dürr A, Vidailhet M. Myoclonus dystonia: Clinical and electrophysiological pattern related to SGCE mutations. Neurology 2008; 70:1010-6.
III. Paroxysmal neurological disorders
Ekmen A, Meneret A, Valabregue R, Beranger B, Worbe Y, Lamy JC, Mehdi S,Herve A, Adanyeguh I, Temiz G, Damier P, Gras D, Roubertie A, Piard J, NavarroV, Mutez E, Riant F, Welniarz Q, Vidailhet M, Lehericy S, Meunier S, Gallea C, RozeE. Cerebellum dysfunction in patients with PRRT2-related paroxysmal dyskinesia. Neurology 2022 in press
Méneret A, Gras D, McGovern EM, Roze E. Caffeine and the dyskinesia related to ADCY5mutations. Annalsof Internal Medicine 2019;171:439
Hainque E, Gras D, MéneretA, Atencio M, Luton MP, Barbier M, Harabou F, Ottolenghi C, Roze E,Mochel F. Long-term follow-up in an open label trial of triheptanoin in GLUT1deficiency syndrome: a sustained dramatic effect. JNNP 2019;90:1291-93
Gras D, Cousin C, Fung CW, Auvin S, Essid N, Hy Chung B, Da Costa L, Hainque E,Luton MP, Petit V, Vuillaumier-Barrot S, Boespflug-Tangy O, Roze E, Mochel F. A simple blood test expedites the diagnosisof GLUT1 deficiency syndrome. Annals ofNeurology 2017;82:133-138
Mochel F, Hainque E, Gras D, Adanyeguh IM,Caillet S, Héron B, Roubertie A, Kaphan E, Valabregue R, Rinaldi D, VuillaumierS, Schiffmann R, Ottolenghi C, Hogrel JY, Servais L, Roze E. Triheptanoin dramatically reduces paroxysmalmotor disorder in patients with GLUT1 deficiency. JNNP 2016;87:550-553
Friedman J Méneret A, Chen DH, TouillardO, Vidailhet M, Raskind WH, Roze E. ADCY5 mutation carriers display pleiotropic paroxysmalday and nighttime dyskinesias. Movement Disorders 2016;31:147-148
MeneretA, Grabli D, Depienne C, Gaudebout C, Picard F, Durr A, Lagroua I, BouteillerD, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D,Steschenko D, Devos D, Billette de Villemeur T, Vidailhet M, Brice A, Roze E. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesiain the european population. Neurology 2012;79:170-4
Riant F*, Roze E*, Barbance C,Méneret A, Guyant-Marechal L, Lucas C, Sabouraud P, Trebuchon A, Depienne C,and Tournier-Lasserve E. PRRT2mutations cause hemiplegic migraines. Neurology 2012;79:2122-4
IV. Unraveling the phenotype of rare movement disorders
WirthT, Mariani LL, Bergant G, Baulac M, Habert MO, Drouot N, Ollivier E, Hodzic A,Rudolf G, Nitschke P, Rudolf G, Chelly J, Tranchant C, Anheim M, Roze E. Loss-of-function of NR4A2 causedopa-responsive dystonia Parkinsonism. Movement Disorders 2020;35:880-885
FriedmanJ, Roze E, Abdenur JE, Chang R,Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, ZafeiriouDI, Arrabal L, Dill P, Eichler FS, Echenne B, MD15, Gutierrez-Solana LG,Hoffmann GF, Hyland K, Kusmierska K, Tijssen MAJ, Lutz T, Mazzuca M, Penzien J,PollThe BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. Sepiapterin Reductase Deficiency: a treatablemimic of cerebral palsy. Annals of Neurology 2012;71:520-30
Roze E, Bounolleau P, Ducreux D, Cochen V,Leu-Semenescu S, Beaugendre Y, Lavallard-Rousseau MC, Blancher A, Bourdain F,Dupont P, Carluer L, Verdure L, Vidailhet M, Apartis E. Propriospinal myoclonusrevisited: clinical, neurophysiological and neuroradiological findings. Neurology 2009;72:1301-9
Ewenczyk C, Leroux A, Roubergue A, Laugel V, AfenjarA, Saudubray JM, Billette de Villemeur T, Beauvais P, Vidailhet M, Roze E. Recessive hereditarymethemoglobinemia, type II: delineation of the clinical spectrum. Brain2008;131:760-71
Roze E, Paschke E, Lopez N, Eck T, Yoshida K,Maurell-Ollivier A, Doummar D, Caillaud C, Galanaud D, Billette de Villemeur T,Vidailhet M, Roubergue A. Dystonia and parkinsonism in GM1 type 3gangliosidosis. Movement Disorders 2005;20:1366-9
V. Apomorphine and Parkinson disease
Meira B, Degos B, Corsetti E, Doulazmi M, Berthelot E, Virbel-Fleischman C, Dodet P, Méneret A, Mariani LL, Delorme C, Cormier-Dequaire F, Bendetowicz D, Villain N, Tarrano C, Mantisi L, Letrillart H, Louapre C, McGovern E, Worbe Y, Grabli D, Vidailhet M, Hainque E, Roze E.Long-term effect of apomorphine infusion in advanced Parkinson’s disease: a real-life study. Nature Partner Journal Parkinson 2021;7:50
Pringsheim T, Day GS, Smith DB, Rae-GrantA, Licking N, Armstrong MJ, De Bie RMA, RozeE, Miyasaki JM, Hauser RA, Espay AJ, Martello JP, Gurwell J, Billinghurst L,Sullivan K, Fitts M, Cothros N, Hall D, Rafferty M, Hagerbrant L, Hastings T,O’Brien, Silsbee H, Gronseth G, Lang AE. Dopaminergic therapy for motor symptoms in early Parkinson disease practice guideline summary: A report of the AAN guideline subcommittee. Neurology 2021;97:942-957
Drapier S, Eusebio A, Degos B, Vérin M, Durif F, Azulay JP, Viallet F, RouaudT, Moreau C, Defebvre L, Fraix V, Tranchant C, Andre K, Courbon CB, Roze E, Devos D. Quality of life in Parkinson’s disease improved by apomorphine pump: the OPTIPUMP study. Journal of Neurology 2016;263:1111-9.
Contribution to science
I. Mirror movements
For the last ten years, I have been conducting a large research program on congenital mirror movements. We identified two (RAD51 and netrin-1) of the three main culprit genes for this disorder and clarify the genetic causes and pathophysiology of this disorder. We were also part of an international consortium that found out the role of a mirror movement gene (DCC)in another developmental disorder, namely corpus callosum agenesis. We finally took advantage of the mirror movement paradigm to get further insight into the development of the motor system and the mechanism involved in the lateralization of the motor control.
During the last 15 years, I was strongly involved in various major works clarifying the spectrum and pathophysiology of myoclonus-dystonia. I published a seminal work describing the clinical and neurophysiological spectrum of this disorder, based on a very large series of patients that were studied in details. I also described rare genetic variants of the disease. i had a significant contribution in the understanding of the disorder by coordinating several experimental works on the pathophysiology that demonstrated the involvement of the cerebellum in this disorder and made it clear that this particular form of genetic dystonia has a pathogenesis, which is different from other genetic dystonias. I also studied the therapeutic aspects: i was part of one of the first works describing the effect of deep brain stimulation and published a paper indicating that this effect may be sustained over at least ten tears. Finally, I conducted the first randomized controlled trial in this disorder, demonstrating that zonisamide is an effective treatment.
III. Paroxysmal neurological disorders
In collaboration with other clinicians and geneticists, I have significantly contributed to our understanding of paroxysmal neurological disorders. In particular, we showed that PRRT2 was the main causative gene of paroxysmal kinesigenic dyskinesia in the European population and provide the first evidence that cerebellar dysfunction is critical for the pathogenesis of this disorder in human. We also demonstrated that this gene was occasionally causing hemiplegic migraine. We also conducted a very innovative pilot therapeutic trial that provide data supporting the efficacy of triheptanoin on the paroxysmal movement disorders of patients with GLUT1 deficiency and developed a simple test to improve the diagnosis of this disorder. More recently, we found that caffeine could be a very effective option to treat movement disorders of patients with ADCY5 mutations.
IV. Unraveling the phenotype of rare movement disorders
My research directions have been driven by my clinical practice, which is focused in rare movement disorders, particularly in children. I have been thereby involved in various studies that clarified genotypic/phenotypic correlation of several rare movement disorders, mostly dystonic disorders.
V. Apomorphine and Parkinson disease
I have been one of the pioneer neurologist that have used apomorphine in France and I have been strongly involved in the development of this approach in France. I am currently the co-PI of the APOMORPHEE study that is a multicenter controlled trial testing the effect of Continuous apomorphine during the night on sleep disorders in insomniac patients with Parkinson's disease (NCT02940912). I was also part of experts group who worked on the last guidelines of the American Academy of Neurology for the treatment of motor symptoms in early Parkinson disease.
Principal Investigator 2011-2017: « Lateralization of motor control: the mirror movement paradigm »; Grant from Fondation pour la Recherche sur le Cerveau, Inserm-COSSEC, Fondation Desmarest (completed)
Principal Investigator 2011-2015: « A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia»; Grant from PHRC (AOR10029)(completed)
Principal investigator 2011-2014: « Cerebellum and cortical plasticity: the case of focal dystonia »; Grant from Dystonia Coalition(NS065701) (completed)
Principal Investigator 2014-2015: « Identification of new genes involved in paroxysmal kinesigenic dyskinesias »; Grant from Fondation Maladies Rares (completed)
Principal Investigator 2015-2017: « A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood »; Grant from the Association Française de l’Hémiplégie Alternante(completed)
Co-Principal investigator 2016-2022: Double Bind Randomized Placebo-controlled Cross-over Study to Evaluate Effect of Continuous Apomorphine During the Night on Sleep Disorders in Insomniac Patients With Parkinson's Disease (ongoing); the project was supported by the companies Orkynand Aguettant.
Co-Principal investigator 2017-2022: «Identification of neuronal mechanisms of agency in cervical dystonia»; Grant from AMADYS (prix Breughel2017) and Fondation Brau de Laurière (ongoing)
Principal investigator 2019-2022: « Midline crossing of the corticospinal tract and lateralization of the motor control: new insights from the mirror movement paradigm ». Grant from Agence Nationale pour la Recherche(ongoing)
Principal Investigator 2019-2022: “Molecular mechanism and experimental therapeutics of ADCY5-related movement disorders”. Grant from ADCY5.org
Co-PI Principal investigator 2022-2024 “deciphering the source of myoclonus dystonia”. Grant from the dystonia Medical Research Foundation.
Principal investigator 2022-2024 “Striatal cAMP alteration: a new target to treat dystonia”. Grant from the dystonia Medical Research Foundation
2008 award of the French neurological society for my work on myoclonus-dystonia
2010 award "pilot project" of the dystonia coalition for studying the role of cerebellum in focal dystonia.
2017 Breughel award fora project studying agentivity and in dystonic patients
2017 excellence certificate from the PEPS jury (ministry of education) for the teaching program “The move”
2016-present: member of the board of the "Collège des Enseignants de Neurologie" (the leading board for the teaching of neurology in France)
2010 - 2018: Permanent member of the “cellule de préselection de l’inserm” (weekly review and discussion of all clinical research projects sponsored by INSERM (main institutional structure for medical research in France)
2010 - 2012: Member of the DGOS-INSERM committee (Ad hoc reviewer for research program)