Conference Coverage

MDS Task Force Launches First-Ever Genetic Mutation Database for Movement Disorders


 

References

BERLIN—The International Parkinson and Movement Disorder Society (MDS) Task Force on Genetic Nomenclature in Movement Disorders has constructed an online database that provides a comprehensive overview of movement disorders phenotypes linked to causative gene mutations. The new MDS Genetic Mutation Database, MDSGene, was introduced at the 20th International Congress of Parkinson’s Disease and Movement Disorders.

Christine Klein, MD

Led by Christine Klein, MD, at the University of Lübeck and Connie Marras, MD, PhD, at the University of Toronto, the MDS Task Force is comprised of a global team of experienced movement disorder specialists and geneticists. Christina Lill, MD, MS, in conjunction with Lars Bertram, MD, both at the University of Lübeck in Germany, spearheaded the development of this innovative tool, which uses genetic and phenotypic/clinical data extracted from relevant literature. MDSGene displays extensive data on mutations in Parkinson’s disease, paroxysmal movement disorders, and familial brain calcification. The database also provides a comprehensive list of the available literature and an extensive summary of patients’ characteristics for each gene of interest using graphic and tabular data summaries. Primarily, MDSGene can be used as a resource to assist clinical diagnosis and guide research in the field of hereditary movement disorders.

Connie Marras, MD, PhD

José A. Obeso, MD, PhD, Professor of Neurology at the University of Navarra, Pamplona, Spain, and Editor-in-Chief of Movement Disorders, stated, “This new database is based on a formal analysis of the different clinical presentation of movement disorders and the associated genetic mutations published in the May issue of Movement Disorders. This very valuable effort will eventually lead to a comprehensive account of most types of movement disorders and their genetic origin, thus allowing and facilitating many newer studies and also serving as a diagnostic tool to clinicians worldwide.” Dr. Obeso added, “In sum, MDSGene is a major contribution to a better definition, classification, and understanding of Parkinson’s disease and several other movement disorders.”

The MDSGene database is available at www.mdsgene.org.

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