Objective: The international MDSGene initiative aims to extract, summarize, curate, and illustrate data from movement disorder patients on the phenotypic and mutational level for which literature is available in English.

Background: A substantial increase in the number of publications and the spectrum of reported variants potentially causative for movement disorders requires a systematic approach to distinguish between relevant and irrelevant information for diagnosis. To address this need, the Movement Disorder Society Genetic Mutation Database (MDSGene), a freely accessible online resource (http://www.mdsgene.org), compiles and organizes genetic and phenotypic data for the movement disorder community.

Method: The >95 members of the international MDSGene team mainly in the USA, Canada, Australia and Europe use the recommendations of the MDS Task Force for Nomenclature of Genetic Movement Disorders as a basis for gene selection. Once a gene is chosen, data extraction and curation is performed according to MDSGene’s standardized data extraction protocol whereas variants are undergoing a pathogenicity scoring procedure to identify disease-causing variants.

Results: MDSGene currently contains >1100 variants reported in >5700 movement disorder patients in >1000 publications. This includes 35 genes covering chorea (ADCY5, NKX2-1, PDE10A), dystonia (TOR1A, KMT2B, THAP1, GNAL, ANO3, PRKRA, HPCA), dystonia/parkinsonism (GCH1, QDPR, SLC30A10, SLC6A3, TAF1), hereditary spastic paraplegia (REEP1), Parkinson’s disease (PINK1, Parkin, DJ-1, SNCA, VPS35, LRRK2), atypical Parkinson’s disease (SYNJ1, DNAJC6, ATP13A2, FBXO7, DCTN1), paroxysmal movement disorders (PNKD, PRRT2, SLC2A1 and KCNA1, SLC1A3), and familial brain calcification (PDGFB, PDGFRB, SLC20A2, XPR1). Demographic information is available as well as detailed clinical data concerning motor and non-motor signs of movement disorders.

Conclusion: The international MDSGene initiative provides a wealth of carefully curated clinical and genetic information. These data are disseminated via MDSGene Systematic Reviews, the MDSGene website, editorials, videos, workshops and lectures. This global approach will assist establishing genetic diagnoses and guide research in the field of hereditary movement disorders.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/update-from-the-international-mdsgene-initiative-international-team-science-to-perform-genotype-phenotype-correlations-for-hereditary-movement-disorders/