Recent Publications

Recent articles and reviews on dystonia from the medical literature.

Chen CH, Fremont R, Arteaga-Bracho EE, Khodakhah K.  Short latency cerebellar modulation of the basal ganglia.Nat Neurosci. 2014 Dec;17(12):1767-75.

Brown R, Zhao C, Chase AR, Wang J, Schlieker C. The mechanism of Torsin ATPase activation. Proc Natl Acad Sci U S A. 2014 Oct 28.

Sosa BA, Demircioglu FE, Chen JZ, Ingram J, Ploegh HL, Schwartz TU. How lamina-associated polypeptide 1 (LAP1) activates Torsin. Elife. 2014 Aug 22;3:e03239.

Hettich J, 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.Biochemical and Cellular Analysis of Human Variants of the DYT1 Dystonia Protein, TorsinA/TOR1A. Hum Mutat. 2014 Jun 13.

Sciamanna G, Ponterio G, Tassone A, Maltese M, Madeo G, Martella G, Poli S, Schirinzi T, Bonsi P, Pisani A. Negative allosteric modulation of mGlu5 receptor rescues striatal D2 dopamine receptor dysfunction in rodent models of DYT1 dystonia. Neuropharmacology. 2014 Jun 18.

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. A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. Mol Genet Genomic Med. 2014 May;2(3):261-72. 

Liang CC, Tanabe LM, Jou S, Chi F, Dauer WT. TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration. J Clin Invest. 2014 Jun 17.

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

Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D, Pickering-Brown S, Silverdale M, Hardy J, Bhatia KP.  Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Mov Disord. 2013 Nov 13.

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. Designing clinical trials for dystonia. Neurotherapeutics. 2013 Nov 27.

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. Phenomenology and classification of dystonia: A consensus update. Movt Disord. 2013 May 6.

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

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. Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Annals of Neurology. Volume 73, Issue 4, April 2013

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. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Annals of Neurology. Volume 73, Issue 4, April 2013

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. Mutations in GNAL cause primary torsion dystonia. Nature Genetics. 45, 88–92 (2013)

Xiao, J, Uitti, R J, Zhao, Y, Vemula, SR, Perlmutter, JS, Wszolek, ZK, Maraganore, DM, Auburger, G, Leube, B, Lehnhoff, K and LeDoux, MS. Mutations in CIZ1 cause adult onset primary cervical dystonia, Annals of Neurology. Volume 71, Issue 4, April 2012

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

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. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Reports. Volume 1, Issue 126, January 2012

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