Treatable inherited rare movement disorders

H. A. Jinnah; Alberto Albanese; Kailash P. Bhatia; Francisco Cardoso; Gustavo Da Prat; Tom J. de Koning; Alberto J. Espay; Victor Fung; Pedro J. Garcia-Ruiz; Oscar Gershanik; Joseph Jankovic; Ryuji Kaji; Katya Kotschet; Connie Marras; Janis M. Miyasaki; Francesca Morgante; Alexander Munchau; Pramod Kumar Pal; Maria C. Rodriguez Oroz; Mayela Rodríguez-Violante; Ludger Schöls; Maria Stamelou; Marina Tijssen; Claudia Uribe Roca; Andres de la Cerda; Emilia M. Gatto

doi:10.1002/mds.27140

Treatable inherited rare movement disorders

H. A. Jinnah^*, Alberto Albanese, Kailash P. Bhatia, Francisco Cardoso, Gustavo Da Prat, Tom J. de Koning, Alberto J. Espay, Victor Fung, Pedro J. Garcia-Ruiz, Oscar Gershanik, Joseph Jankovic, Ryuji Kaji, Katya Kotschet, Connie Marras, Janis M. Miyasaki, Francesca Morgante, Alexander Munchau, Pramod Kumar Pal, Maria C. Rodriguez Oroz, Mayela Rodríguez-ViolanteLudger Schöls, Maria Stamelou, Marina Tijssen, Claudia Uribe Roca, Andres de la Cerda, Emilia M. Gatto

^*Corresponding author for this work

Department of Neurology

90 Citations (Scopus)

Abstract

There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects. In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and others. This list of treatable rare movement disorders is likely to grow during the next few years because a number of additional promising treatments are actively being developed or evaluated in clinical trials.

Original language	English
Journal	Movement Disorders
Volume	33
Issue number	1
Pages (from-to)	21-35
Number of pages	15
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.27140
Publication status	Published - 01.01.2018

Funding

1Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, Georgia, USA 2Department of Neurology, Humanitas Research Hospital, Rozzano, Italy 3Catholic University, Milan, Italy 4Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom 5Department of Internal Medicine, Movement Disorders Clinic, Neurology Service, UFMG, Belo Horizonte, MG, Brazil 6Department of Neurology, Affiliated University of Buenos Aires, Buenos Aires, Argentina 7University DelSalvadore, Buenos Aires, Argentina 8Department of Genetics, Pediatrics and Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands 9James J. and Joan A. Gardner Center for Parkinson’s disease and Movement Disorders, University of Cincinnati, Ohio, USA 10Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, Australia 11Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain 12Institute of Neuroscience, Favaloro Foundation University Hospital, Buenos Aires, Argentina 13Department of Neurology, Parkinson’s Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, Texas, USA 14Department of Neurology, Tokushima University Graduate School of Medicine, Tokushima, Japan 15Clinical Neurosciences, St. Vincent’s Health, Melbourne, Australia 16The Morton and Gloria Shulman Movement Disorders Centre and the Edmond J Safra Program in Parkinson’s Disease, Toronto Western Hospital, University of Toronto, Toronto, Canada 17Division of Neurology, University of Alberta, Edmonton, Canada 18Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy 19Department of Pediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lu€beck, Lu€beck, Germany 20Department of Neurology, National Institute of Mental Health & Neuroscience, Bangalore, India 21University Hospital Donostia, Madrid, Spain 22BioDonostia Research Institute, Basque Center on Cognition, Brain and Language, San Sebastian, Madrid, Spain 23Ikerbasque, Basque Foundation for Science, Bilbao, Spain 24Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain 25Movement Disorders Clinic, National Institute of Neurology and Neurosurgery, Mexico City, Mexico 26Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany 27German Center for Neurodegenerative Diseases, Tubingen, Germany 28Neurology Clinic, Philipps University Marburg, Marburg, Germany 29Parkinson’s Disease and Other Movement Disorders Department, HYGEIA Hospital, Athens, Greece 30Department of Neurology, University Medical Center Groningen, University of Groningen, The Netherlands 31Department of Neurology, British Hospital of Buenos Aires, Buenos Aires, Argentina 32Clinica Davila, CINSAN, Universidad de los Andes, Santiago, Chile 33Department of Neurology, Affiliated University of Buenos Aires and University DelSalvadore, Buenos Aires, Argentina

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 10 Reduced Inequalities

Research Areas and Centers

Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

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10.1002/mds.27140

Cite this

Jinnah, H. A., Albanese, A., Bhatia, K. P., Cardoso, F., Da Prat, G., de Koning, T. J., Espay, A. J., Fung, V., Garcia-Ruiz, P. J., Gershanik, O., Jankovic, J., Kaji, R., Kotschet, K., Marras, C., Miyasaki, J. M., Morgante, F., Munchau, A., Pal, P. K., Rodriguez Oroz, M. C., ... Gatto, E. M. (2018). Treatable inherited rare movement disorders. Movement Disorders, 33(1), 21-35. https://doi.org/10.1002/mds.27140

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title = "Treatable inherited rare movement disorders",

abstract = "There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects. In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and others. This list of treatable rare movement disorders is likely to grow during the next few years because a number of additional promising treatments are actively being developed or evaluated in clinical trials.",

author = "Jinnah, \{H. A.\} and Alberto Albanese and Bhatia, \{Kailash P.\} and Francisco Cardoso and \{Da Prat\}, Gustavo and \{de Koning\}, \{Tom J.\} and Espay, \{Alberto J.\} and Victor Fung and Garcia-Ruiz, \{Pedro J.\} and Oscar Gershanik and Joseph Jankovic and Ryuji Kaji and Katya Kotschet and Connie Marras and Miyasaki, \{Janis M.\} and Francesca Morgante and Alexander Munchau and Pal, \{Pramod Kumar\} and \{Rodriguez Oroz\}, \{Maria C.\} and Mayela Rodr{\'i}guez-Violante and Ludger Sch{\"o}ls and Maria Stamelou and Marina Tijssen and \{Uribe Roca\}, Claudia and \{de la Cerda\}, Andres and Gatto, \{Emilia M.\}",

year = "2018",

month = jan,

day = "1",

doi = "10.1002/mds.27140",

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journal = "Movement Disorders",

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Jinnah, HA, Albanese, A, Bhatia, KP, Cardoso, F, Da Prat, G, de Koning, TJ, Espay, AJ, Fung, V, Garcia-Ruiz, PJ, Gershanik, O, Jankovic, J, Kaji, R, Kotschet, K, Marras, C, Miyasaki, JM, Morgante, F, Munchau, A, Pal, PK, Rodriguez Oroz, MC, Rodríguez-Violante, M, Schöls, L, Stamelou, M, Tijssen, M, Uribe Roca, C, de la Cerda, A & Gatto, EM 2018, 'Treatable inherited rare movement disorders', Movement Disorders, vol. 33, no. 1, pp. 21-35. https://doi.org/10.1002/mds.27140

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T1 - Treatable inherited rare movement disorders

AU - Jinnah, H. A.

AU - Albanese, Alberto

AU - Bhatia, Kailash P.

AU - Cardoso, Francisco

AU - Da Prat, Gustavo

AU - de Koning, Tom J.

AU - Espay, Alberto J.

AU - Fung, Victor

AU - Garcia-Ruiz, Pedro J.

AU - Gershanik, Oscar

AU - Jankovic, Joseph

AU - Kaji, Ryuji

AU - Kotschet, Katya

AU - Marras, Connie

AU - Miyasaki, Janis M.

AU - Morgante, Francesca

AU - Munchau, Alexander

AU - Pal, Pramod Kumar

AU - Rodriguez Oroz, Maria C.

AU - Rodríguez-Violante, Mayela

AU - Schöls, Ludger

AU - Stamelou, Maria

AU - Tijssen, Marina

AU - Uribe Roca, Claudia

AU - de la Cerda, Andres

AU - Gatto, Emilia M.

PY - 2018/1/1

Y1 - 2018/1/1

N2 - There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects. In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and others. This list of treatable rare movement disorders is likely to grow during the next few years because a number of additional promising treatments are actively being developed or evaluated in clinical trials.

AB - There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects. In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and others. This list of treatable rare movement disorders is likely to grow during the next few years because a number of additional promising treatments are actively being developed or evaluated in clinical trials.

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U2 - 10.1002/mds.27140

DO - 10.1002/mds.27140

M3 - Scientific review articles

C2 - 28861905

AN - SCOPUS:85028622983

SN - 0885-3185

VL - 33

SP - 21

EP - 35

JO - Movement Disorders

JF - Movement Disorders

IS - 1

ER -

Treatable inherited rare movement disorders

Abstract

Funding

UN SDGs

Research Areas and Centers

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