Carles Gaig1,2,3, Yaroslau Compta2,4, Anna Heidbreder5,6, Maria J Marti2,4, Maarten J Titulaer7, Yvette Crijnen7, Birgit Högl6, Jan Lewerenz8, María Elena Erro9, Juan Carlos Garcia-Monco10, Pasquale Nigro11, Nicola Tambasco11, Maja Patalong-Ogiewa12, Marcus Erdler13, Stefan Macher14, Evelyn Berger-Sieczkowski14, Romana Höftberger15, Christian Geis16, Markus Hutterer17, Angela Milán-Tomás18, Antonio Martin-Bastida18, Lydia Lopez Manzanares19, Sonia Quintas19, Günter U Höglinger20, Nora Möhn20, Florian Schoeberl21, Franziska S Thaler22, Gian Maria Asioli23, Federica Provini23,24, Giuseppe Plazzi25, Koldo Berganzo26, Morten Blaabjerg27, Norbert Brüggemann28, Tarsis Farias29, Chen Fei Ng30, Caroline Giordana31, Alejandro Herrero-San Martín32, Lucio Huebra33, Katya Kotschet34, Herburg Liendl35, Teresa Montojo36, Carlos Morata37, Jesus Perez Perez38, Inmaculada Puertas39, Thomas Seifert-Held40, Caspar Seitz41, Mateus Mistieri Simabukuro42, Nieves Tellez43, Javier Villacieros-Álvarez44, Barbara Willekens45, Lidia Sabater1, Alex Iranzo1,2,3, Joan Santamaria Cano1,2,3, Josep Dalmau1,2,46, Francesc Graus47. 1. Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. 2. Department of Neurology, Hospital Clinic, Barcelona, Spain. 3. Multidisciplinary Sleep Disorders Unit, Hospital Clinic, Barcelona, Spain. 4. Parkinson's disease & Movement Disorders Unit, Hospital Clinic, Barcelona, Spain. 5. Department Neurology, Division of Sleep Medicine and Neuromuscular Disorders, University Hospital Muenster, Muenster, Germany. 6. Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria. 7. Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands. 8. Department of Neurology, Ulm University, Ulm, Germany. 9. Neurology Department, Complejo Hospitalario de Navarra, Navarra Institute for Health Research (IdiSNA), Pamplona, Spain. 10. Neurology Department. Hospital Universitario de Basurto. Bilbao. Spain (formerly Department of Neurology, Hospital de Galdakao, Spain). 11. Movement Disorders Center, Perugia General Hospital and University of Perugia, Perugia, Italy. 12. Department of Neurology and Neurorehabilitation. Faculty of Medical Sciences in Katowice. Medical University of Silesia, Katowice, Poland. 13. Department of Neurology, Klinik Donaustadt, Karl-Landsteiner-Institut, Vienna, Austria. 14. Department of Neurology, Medical University of Vienna, Austria. 15. Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Austria. 16. Section Translational Neuroimmunology, Department of Neurology, Jena University Hospital, Jena, Germany. 17. Department of Neurology 1, Neuromed Campus, Kepler Universitätsklinikum Linz, Linz, Austria. Department of Neurology with Stroke Unit and Acute Geriatrics, Saint John of God Hospital Linz, Linz, Austria. 18. Department of Neurology and Neurosciences, Clínica Universidad de Navarra, Pamplona-Madrid. Spain. 19. Department of Neurology, Hospital La Princesa, Madrid, Spain. 20. Department of Neurology, Hannover Medical School, Hannover, Germany. 21. Department of Neurology, Ludwig-Maximilians-University; Munich, Germany. 22. Institute of Clinical Neuroimmunology, University Hospital and Biomedical Center, Ludwig-Maximilians University Munich, Munich, Germany. 23. Department of Biomedical and NeuroMotor Sciences (DiBiNeM), Alma Mater Studiorum University of Bologna, Bologna, Italy. 24. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. 25. Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy. 26. Neurology Department, Cruces University Hospital, Barakaldo, Spain. 27. Department of Neurology, Odense University Hospital, Odense, Denmark. 28. Department of Neurology and Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. 29. Department of Neurology, Medical Clinic of Hospital Geral Cleriston Andrade, Feira de Santana, Brazil. 30. Neurology Unit, Department of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia. 31. Department of Movement Disorders and Neurology, CHU Nice, Nice, France. 32. Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain. 33. Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, Brazil. 34. Clinical Neurosciences, St Vincent's Hospital, Melbourne, Australia. 35. Department of Neurology, LKH Murtal, Standort Knittelfeld, Austria. 36. Department of Neurology, Fundación Jiménez Diaz, Madrid, Spain. 37. Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain. 38. Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. 39. Department of Neurology, Hospital La Paz, Madrid, Spain. 40. Department of Neurology, Medical Universtity of Graz, Graz, Austria. 41. Department of Neurology, Mainz University Hospital, Mainz, Germany. 42. Department of Neurology, University of São Paulo Medical School, São Paulo, Brazil. 43. Department of Neurology, Hospital Clínico Universitario, Valladolid, Spain. 44. Department of Neurology, Hospital Universitario Rey Juan Carlos, Madrid, Spain. 45. Department of Neurology, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium. 46. Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain. 47. Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain francesc.graus@idibaps.org.
Abstract
OBJECTIVE: Anti-IgLON5 disease is a recently described neurological disease that shares features of autoimmunity and neurodegeneration. Abnormal movements appear to be frequent and important but have not been characterized and are under-reported. Here we describe the frequency and types of movement disorders in a series of consecutive patients with this disease. METHODS: In this retrospective, observational study, the presence and phenomenology of movement disorders were assessed with a standardized clinical questionnaire. Available videos were centrally reviewed by three experts in movement disorders. RESULTS: Seventy two patients were included. In 41 (57%) the main reason for initial consultation was difficulty walking along with one or several concurrent movement disorders. At the time of anti-IgLON5 diagnosis, 63 (87%) patients had at least one movement disorder with a median of three per patient. The most frequent abnormal movements were gait and balance disturbances (52 patients, 72%), chorea (24, 33%), bradykinesia (20, 28%), dystonia (19, 26%), abnormal body postures or rigidity (18, 25%), and tremor (15, 21%). Other hyperkinetic movements (myoclonus, akathisia, myorhythmia, myokymia, or abdominal dyskinesias) occurred in 26 (36%) patients. The craniofacial region was one of the most frequently affected by multiple concurrent movement disorders (23 patients, 32%) including dystonia (13), myorhythmia (6), chorea (4) or myokymia (4). Considering any body region, the most frequent combination of multiple movement disorders consisted of gait instability or ataxia associated with craniofacial dyskinesias or generalized chorea observed in 31(43%) of patients. In addition to abnormal movements, 87% of patients had sleep alterations, 74% bulbar dysfunction, and 53% cognitive impairment. Fifty-five (76%) patients were treated with immunotherapy, resulting in important and sustained improvement of the movement disorders in only seven (13%) cases. CONCLUSIONS: Movement disorders are a frequent and leading cause of initial neurological consultation in patients with anti-IgLON5 disease. Although multiple types of abnormal movements can occur, the most prevalent are disorders of gait, generalized chorea, and dystonia and other dyskinesias that frequently affect craniofacial muscles. Overall, anti-IgLON5 disease should be considered in patients with multiple movement disorders, particularly if they occur in association with sleep alterations, bulbar dysfunction, or cognitive impairment.
OBJECTIVE: Anti-IgLON5 disease is a recently described neurological disease that shares features of autoimmunity and neurodegeneration. Abnormal movements appear to be frequent and important but have not been characterized and are under-reported. Here we describe the frequency and types of movement disorders in a series of consecutive patients with this disease. METHODS: In this retrospective, observational study, the presence and phenomenology of movement disorders were assessed with a standardized clinical questionnaire. Available videos were centrally reviewed by three experts in movement disorders. RESULTS: Seventy two patients were included. In 41 (57%) the main reason for initial consultation was difficulty walking along with one or several concurrent movement disorders. At the time of anti-IgLON5 diagnosis, 63 (87%) patients had at least one movement disorder with a median of three per patient. The most frequent abnormal movements were gait and balance disturbances (52 patients, 72%), chorea (24, 33%), bradykinesia (20, 28%), dystonia (19, 26%), abnormal body postures or rigidity (18, 25%), and tremor (15, 21%). Other hyperkinetic movements (myoclonus, akathisia, myorhythmia, myokymia, or abdominal dyskinesias) occurred in 26 (36%) patients. The craniofacial region was one of the most frequently affected by multiple concurrent movement disorders (23 patients, 32%) including dystonia (13), myorhythmia (6), chorea (4) or myokymia (4). Considering any body region, the most frequent combination of multiple movement disorders consisted of gait instability or ataxia associated with craniofacial dyskinesias or generalized chorea observed in 31(43%) of patients. In addition to abnormal movements, 87% of patients had sleep alterations, 74% bulbar dysfunction, and 53% cognitive impairment. Fifty-five (76%) patients were treated with immunotherapy, resulting in important and sustained improvement of the movement disorders in only seven (13%) cases. CONCLUSIONS: Movement disorders are a frequent and leading cause of initial neurological consultation in patients with anti-IgLON5 disease. Although multiple types of abnormal movements can occur, the most prevalent are disorders of gait, generalized chorea, and dystonia and other dyskinesias that frequently affect craniofacial muscles. Overall, anti-IgLON5 disease should be considered in patients with multiple movement disorders, particularly if they occur in association with sleep alterations, bulbar dysfunction, or cognitive impairment.
Authors: Christopher G Goetz; Barbara C Tilley; Stephanie R Shaftman; Glenn T Stebbins; Stanley Fahn; Pablo Martinez-Martin; Werner Poewe; Cristina Sampaio; Matthew B Stern; Richard Dodel; Bruno Dubois; Robert Holloway; Joseph Jankovic; Jaime Kulisevsky; Anthony E Lang; Andrew Lees; Sue Leurgans; Peter A LeWitt; David Nyenhuis; C Warren Olanow; Olivier Rascol; Anette Schrag; Jeanne A Teresi; Jacobus J van Hilten; Nancy LaPelle Journal: Mov Disord Date: 2008-11-15 Impact factor: 10.338
Authors: Günter U Höglinger; Gesine Respondek; Maria Stamelou; Carolin Kurz; Keith A Josephs; Anthony E Lang; Brit Mollenhauer; Ulrich Müller; Christer Nilsson; Jennifer L Whitwell; Thomas Arzberger; Elisabet Englund; Ellen Gelpi; Armin Giese; David J Irwin; Wassilios G Meissner; Alexander Pantelyat; Alex Rajput; John C van Swieten; Claire Troakes; Angelo Antonini; Kailash P Bhatia; Yvette Bordelon; Yaroslau Compta; Jean-Christophe Corvol; Carlo Colosimo; Dennis W Dickson; Richard Dodel; Leslie Ferguson; Murray Grossman; Jan Kassubek; Florian Krismer; Johannes Levin; Stefan Lorenzl; Huw R Morris; Peter Nestor; Wolfgang H Oertel; Werner Poewe; Gil Rabinovici; James B Rowe; Gerard D Schellenberg; Klaus Seppi; Thilo van Eimeren; Gregor K Wenning; Adam L Boxer; Lawrence I Golbe; Irene Litvan Journal: Mov Disord Date: 2017-05-03 Impact factor: 10.338