Expanding Data Collection for the MDSGene Database: X-Linked Dystonia-Parkinsonism as Use Case Example

Martje G. Pauly, Marta Ruiz López, Ana Westenberger, Gerard Saranza, Norbert Brüggemann, Anne Weissbach, Raymond L. Rosales, Cid C. Diesta, Roland D.G. Jamora, Charles J. Reyes, Harutyun Madoev, Sonja Petkovic, Laurie J. Ozelius, Christine Klein*, Aloysius Domingo

*Corresponding author for this work
1 Citation (Scopus)


ABSTRACT: MDSGene is an online database on movement disorders that collates genetic and clinical knowledge using a standardized published literature abstraction strategy. This review is dedicated to X-linked dystonia-parkinsonism (XDP). We screened 233 citations and curated phenotypic and genotypic data for 414 cases. To reduce data missingness, we (1) contacted authors and engaged the research community to provide additional clinical and genetic information, and (2) revisited previously unpublished data from a cohort of XDP patients seen at our institution. Using these approaches, we expanded the cohort to 577 cases and increased information available for important clinical and genetic features such as age at onset, initial manifestation, predominant motor symptoms, functional impairments, and repeat size information. We established the use of mining unpublished data to expand the MDSGene workflow and present an up-to-date description of the phenomenology of XDP using an extensive collection of previously reported and unreported data.

Original languageEnglish
JournalMovement Disorders
Issue number11
Pages (from-to)1933-1938
Number of pages6
Publication statusPublished - 11.2020

Research Areas and Centers

  • Research Area: Medical Genetics


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