@article{8e1b23c14db1490887c85e8f3c938837,
title = "Treatment of myoclonus-dystonia syndrome with tetrabenazine",
abstract = "Background: Many cases of myoclonus-dystonia (M-D) are due to mutations in SGCE (DYT11). For the majority of patients, myoclonus is relatively more severe than dystonia and can lead to significant functional disability. Deep brain stimulation has been chosen as a treatment option in some patients given that M-D often responds poorly to oral pharmacotherapy. Methods: Two siblings with M-D due to the same SGCE deletion mutation were evaluated with the Global Dystonia Rating Scale (GDRS), Fahn-Marsden Rating Scale (FM) and Unified Myoclonus Rating Scale (UMRS) on and off tetrabenazine. Results: Both subjects showed marked improvement in myoclonus and mild-to-moderate improvement in dystonia with tetrabenazine. In addition, the response to tetrabenazine has been sustained for years. Conclusions: A therapeutic trial of tetrabenazine should be considered in patients with M-D, especially before consideration of deep brain stimulation. An adequately powered multi-center, double-blind study of tetrabenazine will be required to determine the relative contributions of tetrabenazine therapy to myoclonus, dystonia, quality of life, and activities of daily living in patients with M-D.",
keywords = "Blinded, Dopamine, Dystonia, Myoclonus, Tetrabenazine",
author = "Luciano, {Angelo Y.} and Jinnah, {H. A.} and Pfeiffer, {Ronald F.} and Truong, {Daniel D.} and Nance, {Martha A.} and LeDoux, {Mark S.}",
note = "Funding Information: Dr. LeDoux serves on the speakers' bureaus for Lundbeck, UCB Pharma and TEVA; serves on advisory boards for TEVA, Lundbeck and USWorldMeds; serves as a consultant for the Mayo Clinic; receives research support from the National Institutes of Health (NIH), Prana, Omeros, Auspex, USWorldMeds and CHDI; and receives royalty payments from Elsevier. Funding Information: Dr. Nance has received grant support for research from NIH, The Patient Centered Outcomes Research Institute (PCORI) , the Park Nicollet Foundation , The National Parkinson Foundation , The Michael J. Fox Foundation , Neurosearch A/S , Prana Biotechnology , Auspex , TEVA , Huntington Disease Society of America , CHDI and for Centers of Excellence from the Huntington Disease Society of America and the National Parkinson Foundation. She has served on an Advisory Board from Lundbeck. Her husband owns stock in Fresca Corporation. She has received payment for educational program development from WebMD and Medscape, and royalties from Oxford University Press. Funding Information: Dr. Jinnah has received research grant support from the NIH, the Atlanta Clinical & Translational Science Institute , the Emory University Research Council, the Lesch-Nyhan Syndrome Children's Research Foundation , the Dystonia Medical Research Foundation, the Bachmann-Strauss Dystonia & Parkinson's Foundation, and the Benign Essential Blepharospasm Research Foundation. He also is principal investigator for the Dystonia Coalition, which receives the majority of its support through NIH grant NS065701 from the Office of Rare Diseases Research in the National Center for Advancing Translational Sciences and National Institute of Neurological Disorders and Stroke. The Dystonia Coalition receives additional material or administrative support from industry sponsors (Allergan, Ipsen Biopharm, Medtronics, and Merz) as well as private foundations (The American Dystonia Society, The Bachmann-Strauss Dystonia and Parkinson Foundation, BeatDystonia, The Benign Essential Blepharospasm Foundation, Dystonia Europe, Dystonia Ireland, The Dystonia Medical Research Foundation, The Dystonia Society, The Foundation for Dystonia Research, The National Spasmodic Dysphonia Association, and The National Spasmodic Torticollis Association). Dr. Jinnah serves on the Scientific Advisory Boards for Cure Dystonia Now, the Dystonia Medical Research foundation, Tyler's Hope for a Dystonia Cure, the Lesch-Nyhan Syndrome Children's Research Foundation, and Lesch-Nyhan Action France. Funding Information: Dr Truong receives research support from AbbVie, Adamas, Auspex, Ipsen, Kyowa Hakko Kirin, Merz, the National Institutes of Health and Pfizer; and receives royalty payment from Cambridge Publishing Company, Demos and Wiley Blackwell. Funding Information: This research was supported by National Institutes of Health grants R01 NS069936 , R01 NS082296 and U54 NS065701 to Dr. LeDoux. Dr. Jinnah's work related to dystonia has been supported in part by grants from private foundations including the Bachmann-Strauss Dystonia & Parkinson Foundation , the Benign Essential Blepharospasm Research Foundation , and the Dystonia Medical Research Foundation , and Tyler's Hope for a Cure . It also has been supported in part by research grants from the National Institutes of Health (U54 NS065701, R01 NS040470 , R01 HD053312 ), and the Emory University Research Council . Publisher Copyright: {\textcopyright} 2014 Elsevier Ltd.",
year = "2014",
month = dec,
day = "1",
doi = "10.1016/j.parkreldis.2014.09.029",
language = "English (US)",
volume = "20",
pages = "1423--1426",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",
number = "12",
}