The Movement Disorder Society Genetic Mutation Database (MDSGene) provides a comprehensive and systematic overview of data on movement disorder patients reported to carry causative genetic variants. Currently, MDSGene contains data from the English-language literature, encompassing 2695 distinct variants identified in 23,830 movement disorder patients. These data are extracted from 2,217 publications, including case reports, family-based studies, and mutational screenings. For details on data collection and curation procedures, see the Methods section.

No literature review can be exhaustive, and while every effort is made to include all relevant publications, some may have been missed. The content of MDSGene is continually expanded to incorporate recent publications and additional genetic forms of major movement disorders. Feedback is welcome via the contact form on this website.

Latest addition: Learn more about our Ataxia Resource. The Global Genetic Ataxia Resource is a data-driven platform offering up-to-date, searchable, and filterable epidemiological, clinical, and diagnostic information on 548 genes associated with ataxia across 122 countries. The platform includes interactive maps and tailored, phenotype- and region-specific genetic testing approaches.

The development and curation of MDSGene is supported by the International Parkinson and Movement Disorder Society (MDS). Please note that neither the MDS nor the scientists in charge of content curation assume any liability for the relevance, accuracy, completeness, or quality of the information provided on this database. See the disclaimer for further information.

MDSGene may be used for individual, personal, educational, research, and nonpecuniary purposes only. MDSGene may not be used in whole or in part for commercial purposes without the expressed, written permission in advance from MDS and payment of an applicable licensing fee as determined by MDS in its sole discretion. Please use the contact us form for any request.