Find out about the latest publications and events at Mass General's Collaborative Center for X-linked Dystonia-Parkinsonism.

National Academy of Medicine

The Collaborative Center for X-Linked Dystonia-Parkinsonism congratulates our advisory board members, Drs. Craig Blackstone and Nicole Calakos, on their election to the National Academy of Medicine.

These two outstanding clinician-scientists join Drs. Anne B. Young, David Housman, Ann Graybiel and Merit Cudkowicz as CCXDP board members with this prestigious honor. We are grateful to have them guide our efforts to find solutions for XDP.

Dr. Craig Blackstone
Dr. Craig Blackstone
Dr. Nicole Calakos
Dr. Nicole Calakos





The Collaborative Center for X-Linked Dystonia-Parkinsonism (CCXDP) at Mass General has announced its first ever Hackathon for XDP.  CCXDP is calling for healthcare startups, developers, solutions architects, and hackathon enthusiasts to drive innovation and improve the lives of patients living with this rare neurodegenerative disease Contribute to a global effort to solve a rare and fatal disease, engage with experts in the field, and network with fellow professionals and students to help make your hackathon solution as real as it gets! Download the flyer or learn more at HackForXDP.

Recent Publications

A collaborative effort from the laboratories of Jennifer Erwin (Lieber Institute for Brain Development/Johns Hopkins) and Cris Bragg (MGH) characterizing TAF1 expression in iPSCs from heterozygous carriers of the disease haplotype associated with XDP was published in eNeuro in July 2022.

Variation in TAF1 Expression in Female Carrier-Induced Pluripotent Stem Cells and Human Brain Ontogeny Has Implications for Adult Neostriatum Vulnerability in X-Linked Dystonia Parkinsonism Laura D’Ignazio, Ricardo S. Jacomini, Bareera Qamar, Kynon J. M. Benjamin, Ria Arora, Tomoyo Sawada, Taylor A. Evans, Kenneth E. Diffenderfer, Aimee R. Pankonin, William T. Hendriks, Thomas M. Hyde, Joel E. Kleinman, Daniel R. Weinberger, D. Cristopher Bragg, Apua C. M. Paquola and Jennifer A. Erwin 

Research has identified a repeating DNA pattern in people with XDP and shown that the number of times it repeats is correlated with age at disease onset: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat. Campion LN, Meijia Maza A, Yadav R, Penney EB, Murcar MG, Correia K, Gillis T, Fernandez-Cerado C, Velasco-Andrada MS, Legarda GP, Ganza-Bautista NG, Lagarde JBB, Acuña PJ, Multhaupt-Buell T, Aldykiewicz G, Supnet ML, De Guzman JK, Go C, Sharma N, Munoz EL, Ang MC, Diesta CCE, Bragg DC, Ozelius LJ, Wheeler VC. Acta Neuropathol Commun. 2022 Apr 8;10(1):49. doi: 10.1186/s40478-022-01349-0.

A new study of speech and swallowing deficits in XDP suggests possibility of early detection of disease and improved clinical care for patients: Speech and swallowing deficits in X-Linked Dystonia-Parkinsonism
Ana Luiza Zaninotto Jan K de Guzman,  Kaila L Stipancic, Bridget J Perry, Melanie L Supnet, Criscely Go, Nutan Sharma, Jordan R Green. Parkinsonism Relat Disord 2021 Jul 9;89:105-110.

Progressive decline in voice and voice-related quality of life in X-linked Dystonia-Parkinsonism.
Sungjin A Song, Criscely L GoPatrick B AcuñaJan Kristopher Palentinos De GuzmanNutan SharmaPhillip C Song. J Voice. 2020 Dec 14;S0892-1997(20)30428-8. doi: 10.1016/j.jvoice.2020.11.014

Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism.
Fernandez-Cerado C, Legarda GP, Velasco-Andrada MS, Aguil A, Ganza-Bautista NG, Lagarde JBB, Soria J, Jamora RDG, Acuña PJ, Vanderburg C, Sapp E, DiFiglia M, Murcar MG, Campion L, Ozelius LJ, Alessi AK, Singh-Bains MK, Waldvogel HJ, Faull RLM, Macalintal-Canlas R, Muñoz EL, Penney EB, Ang MA, Diesta CCE, Bragg DC, Acuña-Sunshine G.  J Neural Transm (Vienna). 2021 Jan 13. doi: 10.1007/s00702-020-02286-9.

SVA insertion in X-linked Dystonia-Parkinsonism alters histone H3 acetylation associated with TAF1 gene.
Petrozziello T, Dios AM, Mueller KA, Vaine CA, Hendriks WT, Glajch KE, Mills AN, Mangkalaphiban K, Penney EB, Ito N, Fernandez-Cerado C, Legarda GPA, Velasco-Andrada MS, Acuña PJ, Ang MA, Muñoz EL, Diesta CCE, Macalintal-Canlas R, Acuña G, Sharma N, Ozelius LJ, Bragg DC, Sadri-Vakili. G.PLoS One. 2020 Dec 14;15(12):e0243655. doi: 10.1371/journal.pone.0243655. eCollection 2020.

Earlier Publications

Neuroimaging and neuropathology studies of X-linked dystonia-parkinsonism
Christine J Arasaratnam, Malvindar K Singh-Bains, Henry J Waldvogel, Richard L M Faull. Neurobiol Dis 2020 Nov 20;148:105186.

Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia-Parkinsonism post-mortem prefrontal cortex.
Petrozziello T, Mills AN, Vaine CA, Penney EB, Fernandez-Cerado C, Legarda GPA, Velasco-Andrada MS, Acuña PJ, Ang MA, Muñoz EL, Diesta CCE, Macalintal-Canlas R, Acuña-Sunshine G, Ozelius LJ, Sharma N, Bragg DC, Sadri-Vakili G. Neurobiol Dis. 2020 Oct;144:105032. doi: 10.1016/j.nbd.2020.105032.

TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-Linked Dystonia-Parkinsonism.
Al Ali J, Vaine CA, Shah S, Campion L, Hakoum A, Supnet ML, Acuña P, Aldykiewicz G, Multhaupt-Buell T, Ganza NGM, Lagarde JBB, De Guzman JK, Go C, Currall B, Trombetta B, Webb PK, Talkowski M, Arnold SE, Cheah PS, Ito N, Sharma N, Bragg DC, Ozelius L, Breakefield XO. Mov Disord. 2020 Sep 25. doi: 10.1002/mds.28305.

Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia-Parkinsonism
Stephen, CD, Go, CL, Acuña, P, Sharma N. Mov Disord Clin Pract 2020 Mar 26;7(4):448-452.

CCXDP Investigator News

Ben Kleinstiver, PhD

Ben Kleinstiver, PhD Receives Oustanding New Investigator Award

August 11, 2021 – Congratutations to Ben Kleinstiver, PhD, who recently won the Oustanding New Investigator Award from The American Society of Gene & Cell Therapy for his work in genome editing.  Dr. Kleinstiver has been a member of the CCXDP consortium since 2015, first as a postdoctoral fellow in the laboratory of Keith Joung, PhD and now as an independent investigator in the Center for Genomic Medicine at Mass General. His current work with Casey Maguire, PhD seeks to investigate novel AAV capsids and CRISPR/Cas9 gene editing as a gene therapeutic approach to target the XDP-SVA. Learn more about the ASGCT awards.

CCXDP Investigator Michael Talkowski, PhD Named Director of Center for Genomic Medicine at Mass General

September 1, 2020 – CCXDP investigator Dr. Michael Talkowski has been selected as Director of the Center for Genomic Medicine (CGM) at Massachusetts General Hospital. Dr. Talkowski will be the third CGM Director, following two world-class scientists, Dr. Sekar Kathiresan and founding director Dr. James Gusella.

Dr. Talkowski is a CGM faculty member, Associate Professor of Neurology with cross-appointments in Psychiatry and Pathology, and the Desmond and Ann Heathwood MGH Research Scholar. Within the CGM, he is affiliated with the Molecular Neurogenetics and Psychiatric and Neurodevelopmental Genetics Units, as well as the Mass General Analytical and Translational Genetics Unit, and directs the Mass General Genomics and Technology Core. He is also core faculty in the department of Neurology Collaborative Center for X-linked Dystonia-Parkinsonism (CCXDP), and an Institute Member of the Broad Institute of MIT and Harvard.

Michael completed his PhD in 2008 in Human Genetics, with a focus in neuropsychiatric genetics, from the University of Pittsburgh Graduate School of Public Health and Department of Psychiatry. His postdoctoral training followed in neurogenetics and genomics here at Mass General, Harvard Medical School, and the Broad Institute under Dr. Gusella. During this time, he developed methods to explore structural rearrangements in the genome and determine their impact in neurodevelopmental disorders and congenital anomalies. He was promoted to Instructor in Neurology in 2011 and appointed to the faculty as Assistant Professor in 2013.  

Michael's pioneering research has defined changes in the structural organization of the genome and their implications for human disease. His discoveries have integrated molecular and analytic methods to traverse the continuum from identifying DNA mutations to exploring their biological mechanisms for translational insights. He initially used genome sequencing technologies to reveal the extraordinary complexity underlying chromosomal abnormalities in the human germline, including entirely new classes of complex genomic variation. He won the MGH Martin Prize in Translational Research for these discoveries, and the application of genome sequencing to prenatal diagnostics. His current research program is engaged in multiple consortia to explore the genetic architectures of common complex and rare Mendelian disorders, to create maps of structural variation across populations, to perform scalable functional perturbations of genes associated with disease, and to advance new technologies in prenatal and pediatric diagnostics.