Treatable inherited rare movement disorders

Research output: Contribution to journalReview article

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Treatable inherited rare movement disorders. / Jinnah, H. A.; Albanese, Alberto; Bhatia, Kailash P.; Cardoso, Francisco; Da Prat, Gustavo; de Koning, Tom J.; Espay, Alberto J.; Fung, Victor; Garcia-Ruiz, Pedro J.; Gershanik, Oscar; Jankovic, Joseph; Kaji, Ryuji; Kotschet, Katya; Marras, Connie; Miyasaki, Janis M.; Morgante, Francesca; Munchau, Alexander; Pal, Pramod Kumar; Rodriguez Oroz, Maria C.; Rodríguez-Violante, Mayela; Schöls, Ludger; Stamelou, Maria; Tijssen, Marina; Uribe Roca, Claudia; de la Cerda, Andres; Gatto, Emilia M.; for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders.

In: Movement Disorders, Vol. 33, No. 1, 01.01.2018, p. 21-35.

Research output: Contribution to journalReview article

Harvard

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 & for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders 2018, 'Treatable inherited rare movement disorders', Movement Disorders, vol. 33, no. 1, pp. 21-35. https://doi.org/10.1002/mds.27140

APA

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., ... for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders (2018). Treatable inherited rare movement disorders. Movement Disorders, 33(1), 21-35. https://doi.org/10.1002/mds.27140

CBE

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, for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders. 2018. Treatable inherited rare movement disorders. Movement Disorders. 33(1):21-35. https://doi.org/10.1002/mds.27140

MLA

Vancouver

Jinnah HA, Albanese A, Bhatia KP, Cardoso F, Da Prat G, de Koning TJ et al. Treatable inherited rare movement disorders. Movement Disorders. 2018 Jan 1;33(1):21-35. https://doi.org/10.1002/mds.27140

Author

Jinnah, H. A. ; Albanese, Alberto ; Bhatia, Kailash P. ; Cardoso, Francisco ; Da Prat, Gustavo ; de Koning, Tom J. ; Espay, Alberto J. ; Fung, Victor ; Garcia-Ruiz, Pedro J. ; Gershanik, Oscar ; Jankovic, Joseph ; Kaji, Ryuji ; Kotschet, Katya ; Marras, Connie ; Miyasaki, Janis M. ; Morgante, Francesca ; Munchau, Alexander ; Pal, Pramod Kumar ; Rodriguez Oroz, Maria C. ; Rodríguez-Violante, Mayela ; Schöls, Ludger ; Stamelou, Maria ; Tijssen, Marina ; Uribe Roca, Claudia ; de la Cerda, Andres ; Gatto, Emilia M. ; for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders. / Treatable inherited rare movement disorders. In: Movement Disorders. 2018 ; Vol. 33, No. 1. pp. 21-35.

RIS

TY - JOUR

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.

AU - for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders

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.

KW - experimental therapeutics

KW - inherited disease

KW - orphan disease

KW - Rare disease

KW - treatment

UR - http://www.scopus.com/inward/record.url?scp=85028622983&partnerID=8YFLogxK

U2 - 10.1002/mds.27140

DO - 10.1002/mds.27140

M3 - Review article

C2 - 28861905

AN - SCOPUS:85028622983

VL - 33

SP - 21

EP - 35

JO - Movement Disorders

JF - Movement Disorders

SN - 0885-3185

IS - 1

ER -