Scientific resources for researchers investigating X-linked Dystonia Parkinsonism.
Induced Pluripotent Stem (iPSCs)
A collection iPSCs including affected men and women, unaffected controls, and carrier females is available at WiCell, Inc.
Lymphoblasts from dystonia patients including XDP (DYT3) and controls may be requested from the Dystonia Mass General Brigham Research Bank at MGH by contacting Trisha Multhaupt-Buell, MS, CGC
An extensive collection of fibroblasts from dystonia patients, including XDP (DYT3), were recently deposited at RUCDR Infinite Biologicals and will come online on a rolling basis. Fibroblasts may also be requested from the Dystonia Mass General Brigham Research Bank at Mass General by contacting Trisha Multhaupt-Buell, MS, CGC.
Please note that fibroblasts are a limited resource. Availability will depend on how often lines are requested.
Postmortem Brain Tissue
Samples from a limited number of postmortem XDP brains are available for research. Control tissue is not currently available. Brain collection efforts in the Philippines are described here.
Please note that due to the precious nature of this resource, a supplementary application and review by the XDP Brain Bank Tissue Committee is required before tissue distribution. Please contact Program Director Amy Alessi, PhD for additional information.
Novel anti-C-TAF1 rabbit monoclonal antibodies are available by request by contacting Amy Alessi, PhD.
De-identified clinical data
Please contact Clinical Program Research Manager, Trisha Multhaupt-Buell, MS, CGC for additional information.
Resources for Patients and Physicians
- Massachusetts General Hospital's Movement Disorders Unit
- Movement Disorder Society of the Philippines
- Dystonia Coalition (Rare Diseases Clinical Network)
- Dystonia Medical Research Foundation
- National Institutes of Health (NIH) Dystonias Fact Sheet
- Tyler's Hope for a Dystonia Cure
- X-linked Dystonia Parkinsonism: Accelerating Research and Expanding Clinical Care
To inquire about Genetic Testing or enrolling in research studies please contact
Trisha J. Multhaupt-Buell, MS, CGC
Genetic Counselor, Research Counselor
Massachusetts General Hospital, Department of Neurology
Mass General Collaborative Center for XDP
110 6th St., Room 213C
Charlestown MA 02129-4522