Session Information
Date: Sunday, October 7, 2018
Session Title: Technology
Session Time: 1:45pm-3:15pm
Location: Hall 3FG
Objective: To explore phenotype-genotype relationships of familial movement disorders, the Movement Disorder Society Genetic Mutation Database (MDSGene) extracts, summarizes, and curates published data on the phenotypic and mutational level.
Background: The increasing cost-efficiency of genetic testing has led to a substantial increase in the number of publications and the spectrum of reported variants potentially causative for movement disorders. MDSGene, launched in 2016, is a freely accessible online resource (http://www.mdsgene.org) that provides a systematic overview on the currently published literature on phenotype-genotype relationships in hereditary movement disorders in the English language.
Methods: Inclusion of genes into MDSGene is based on the recommendations of the MDS Task Force for Nomenclature of Genetic Movement Disorders. Data extraction and curation is performed according to MDSGene’s standardized data extraction protocol optimized for hereditary movement disorders by an international team of >60 members in 13 countries including clinicians, geneticists, and epidemiologists.
Results: MDSGene currently contains >750 variants reported in >3900 movement disorder patients in >650 publications including Parkinson’s disease (PINK1, Parkin, DJ-1, SNCA, VPS35, LRRK2), atypical Parkinson’s disease (SYNJ1, DNAJC6, ATP13A2, FBXO7), dystonia (TOR1A, KMT2B, THAP1, GNAL, ANO3), paroxysmal movement disorders (PNKD, PRRT2, SLC2A1), and familial brain calcification (PDGFB, PDGFRB, SLC20A2, XPR1). Detailed clinical information contains motor and non-motor signs of movement disorders.
Conclusions: The MDSGene database represents an important research tool and allows for easy online access to a wealth of carefully curated clinical and genetic information. It is projected to contain all major hereditary movement disorders by the year 2021 and thus is ideally positioned to become a leading resource for genetic counseling as well as clinical trial design.
To cite this abstract in AMA style:
S. Petkovic, S. Schaake, J. Huang, H. Madoev, A. Rasheed, C. Lill, K. Lohmann, C. Klein, C. Marras. The international MDSGene initiative: Systematically exploring genotype-phenotype correlations of hereditary movement disorders [abstract]. Mov Disord. 2018; 33 (suppl 2). https://www.mdsabstracts.org/abstract/the-international-mdsgene-initiative-systematically-exploring-genotype-phenotype-correlations-of-hereditary-movement-disorders/. Accessed June 14, 2025.« Back to 2018 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/the-international-mdsgene-initiative-systematically-exploring-genotype-phenotype-correlations-of-hereditary-movement-disorders/