Recent Publications

Recent peer-viewed articles and reviews on dystonia.

Biochemical and Cellular Analysis of Human Variants of the DYT1 Dystonia Protein, TorsinA/TOR1A.
Hettich J1, Ryan SD, de Souza ON, Saraiva Macedo Timmers LF, Tsai S, Atai NA, da Hora CC, Zhang X, Kothary R, Snapp E, Ericsson M, Grundmann K, Breakefield XO, Nery FC. Hum Mutat. 2014 Jun 13. doi: 10.1002/humu.22602. [Epub ahead of print]
 
Negative allosteric modulation of mGlu5 receptor rescues striatal D2 dopamine receptor dysfunction in rodent models of DYT1 dystonia.
Sciamanna G, Ponterio G, Tassone A, Maltese M, Madeo G, Martella G, Poli S, Schirinzi T, Bonsi P, Pisani A.
Neuropharmacology. 2014 Jun 18. pii: S0028-3908(14)00235-4. doi: 10.1016/j.neuropharm.2014.06.013. [Epub ahead of print]

A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.
Vemula SR, Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Truong DD, Blitzer A, Rudzińska M, Momčilović D, Jinnah HA, Frei K, Pfeiffer RF, LeDoux MS.
Mol Genet Genomic Med. 2014 May;2(3):261-72. doi: 10.1002/mgg3.67. Epub 2014 Feb 11.

TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration.
Liang CC, Tanabe LM, Jou S, Chi F, Dauer WT.
J Clin Invest. 2014 Jun 17. pii: 72830. doi: 10.1172/JCI72830. [Epub ahead of print]

The BiP molecular chaperone plays multiple roles during the biogenesis of TorsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.
Zacchi LF, Wu HC, Bell SL, Millen L, Paton AW, Paton JC, Thomas PJ, Zolkiewski M, Brodsky JL.
J Biol Chem. 2014 May 2;289(18):12727-47. doi: 10.1074/jbc.M113.529123. Epub 2014 Mar 13.

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.
Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D, Pickering-Brown S, Silverdale M, Hardy J, Bhatia KP.
Mov Disord. 2013 Nov 13. doi: 10.1002/mds.25732. [Epub ahead of print]

Designing clinical trials for dystonia.
Galpern WR, Coffey CS, Albanese A, Cheung K, Comella CL, Ecklund DJ, Fahn S, Jankovic J, Kieburtz K, Lang AE, McDermott MP, Shefner JM, Teller JK, Thompson JL, Yeatts SD, Jinnah HA.
Neurotherapeutics. 2013 Nov 27. [Epub ahead of print]

Phenomenology and classification of dystonia: A consensus update
Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK.
Movement Disorders. 2013 May 6. [Epub ahead of print]

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia
Vemula SR, Puschmann A, Xiao J, Zhao Y, Rudziñska M, Frei KP, Truong DD, Wszolek ZK, Ledoux MS.
Human Molecular Genetics. 2013 February 27.

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia
Joshua Hersheson, Niccolo E. Mencacci, Mary Davis, Heather N MacDoanld, Daniah Trabzuni, Mina Ryten, Alan Pittman, Reema Paudel, Eleanna Kara, Katherine Fawcett, Vincent Plagnol, Kailash Bhatia, Alan J Medlar, Horia C Stanescu, John Hardy, Robert Kleta, Nicholas W. Wood and Henry Houlden
Annals of Neurology. Volume 73, Issue 4, April 2013 [Epub ahead of print]

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
Katja Lohmann, Robert A Wilcox, Susen Winkler, Alfredo Ramirez, Aleksandar Rakovic, Jin-Sung Park, Björn Arns, Thora Lohnau, Justus Groen, Meike Kasten, Norbert Brüggemann, Johann Hagenah, Alexander Schmidt, Frank J Kaiser, Kishore R. Kumar, Katja Zschiedrich, Daniel Alvarez-Fischer, Eckart Altenmüller, Andreas Ferbert, Anthony E Lang, Alexander Münchau, Vladimir Kostic, Kristina Simonyan, Marc Agzarian, Laurie J Ozelius, Antonius PM Langeveld, Carolyn M Sue, Marina AJ Tijssen and Christine Klein
Annals of Neurology. Volume 73, Issue 4, April 2013 [Epub ahead of print]

Mutations in GNAL cause primary torsion dystonia
Tania Fuchs, Rachel Saunders-Pullman, Ikuo Masuho, Marta San Luciano, Deborah Raymond, Stewart Factor,    Anthony E Lang, Tsao-Wei Liang, Richard M Trosch, Sierra White, Edmond Ainehsazan, Denis Hervé, Nutan Sharma, Michelle E Ehrlich, Kirill A Martemyanov, Susan B Bressman, Laurie J Ozelius
Nature Genetics. 45, 88–92 (2013) [Epub ahead of print]

Mutations in CIZ1 cause adult onset primary cervical dystonia
Xiao, J., Uitti, R. J., Zhao, Y., Vemula, S. R., Perlmutter, J. S., Wszolek, Z. K., Maraganore, D. M., Auburger, G., Leube, B., Lehnhoff, K. and LeDoux, M. S. (2012),
Annals of Neurology. Volume 71, Issue 4, April 2012

An anticholinergic reverses motor control and corticostriatal LTD deficits in Dyt1 ΔGAG knock-in mice.
Dang MT, Yokoi F, Cheetham CC, Lu J, Vo V, Lovinger DM, Li Y.
Behavioural Brain Research. 2012 January 15 [Epub ahead of print]

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D.O. Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa, Betul Baykan, Kailash Bhatia, Susan Bressman, Michiko K. Bruno, Ewout R. Brunt, Roberto Caraballo, Bernard Echenne, Natalio Fejerman, Steve Frucht, Christina A. Gurnett, Edouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohammed, Ulrich Müller, Mark P. Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing-Wen Soong, Kathryn J. Swoboda, Sam Tucker, Nicholas Wood, Michael Hanna, Anne M. Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček
Cell Reports. Volume 1, Issue 126, January 2012

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