Introduction

The Movement Disorder Society Genetic mutation database (MDSGene) aims to provide a comprehensive, systematic overview of published data on movement disorder patients reported to carry causative gene mutations. MDSGene currently contains data on 444 different mutations in 2266 movement disorder patients extracted from 341 publications such as case and family-based studies and mutation screens. See methods for details on data collection and curation procedures.

Note that content on MDSGene will soon be expanded to cover all major movement disorders and diseases. If you have any comments on MDSGene, please do not hesitate to contact us using the contact form available on this website.

The database can be searched in two ways:

  1. Use the “Choose genes” option to retrieve clinical phenotypes reported for specific disease genes and mutations.
  2. Use the “Choose signs and symptoms” option to retrieve a list of disease genes and mutations linked to specific clinical phenotypes.

The development and curation of MDSGene is supported by the International Parkinson and Movement Disorder Society (MDS). 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 legal disclaimer for further information.

How to cite:
Lill CM, Mashychev A, Hartmann C, Lohmann K, Marras C, Lang AE, Klein C, Bertram L. Launching the movement disorders society genetic mutation database (MDSGene). Mov Disord, 2016 May;31(5):607-9. DOI: 10.1002/mds.26651.