Abstract
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and engaged the research community to provide additional clinical and genetic information, and (2) revisited previously unpublished data from a cohort of XDP patients seen at our institution.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 We established the use of mining unpublished data to expand the MDSGene workflow and present an up-to-date description of the phenomenology of XDP using an extensive collection of previously reported and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 language | English |
|---|---|
| Journal | Movement Disorders |
| Volume | 35 |
| Issue number | 11 |
| Pages (from-to) | 1933-1938 |
| Number of pages | 6 |
| ISSN | 0885-3185 |
| DOIs | |
| Publication status | Published - 11.2020 |
Funding
Martje G. Pauly is supported by the Clinican Scientist Program of the University of Lübeck (CS06‐2020). Ana Westenberger received honoraria for medical writing at Centogene AG and is supported by the German Research Foundation. Norbert Brüggemann is a medical consultant to Censa and Centogene; has received honoraria from UCB, Teva and Abbvie; and is supported by the Collaborative Center for X‐linked Dystonia‐Parkinsonism and the German Research Foundation. Anne Weissbach is supported by the Else Kröner‐Fresenius Foundation (2018_A55), the Deutsche Forschungsgemeinschaft (WE5919/2–1) and the Edmond J. Safra fellowship in Movement Disorders from the Michael J. Fox Foundation. Raymond L. Rosales is a medical consultant for Ipsen Pharma, Regional; is on the advisory board for CCXDP‐MGH and Neurology Franchise, Ipsen Pharma; has received honoraria from Ipsen, Pfizer, Novartis, Abbott, Sun and Torrent and Unilab‐Medichem Pharma; is supported by a research grant from Ipsen Pharma on Asian Clinical Trials for Botulinum Toxin Therapy. Cid Czarina Diesta is supported by the Dystonia Medical Research Foundation and the Collaborative Center for X‐linked Dystonia‐Parkinsonism. Roland Dominic G. Jamora is on the advisory board of Philippine offices of Lundbeck and Torrent Pharma; received honoraria from Philippine offices of Allergan, Medichem, Natrapharm, Kusum, Torrent Pharma, Lundbeck and Zydus; is supported by the Philippine Neurological Association and the Collaborative Center for X‐linked Dystonia‐Parkinsonism (CCXDP). Charles Jourdan Reyes is supported by a Ph.D. scholarship from the Katholischer Akademischer Ausländer‐Dienst (K.A.A.D.). Laurie J. Ozelius is on the advisory boards of the Benign Essential Blepharospasm Foundation,Alternating Hemiplegia of Childhood Foundation and National Spasmodic Dysphonia Association; is supported by the NIH and the Collaborative Center for X‐linked Dystonia‐Parkinsonism. Christine Klein is a medical consultant to Centogene for genetic testing for movement disorders (except parkinsonism) and dementia; has received honoraria from the Scientific Advisory Board of the Else Kroener Fresenius Foundation; is supported by the Movement Disorder Society, MJFF, BMBF, European Commission, MDS and intramural funds from the University of Lübeck. Aloysius Domingo is supported by the Dystonia Medical Research Foundation and the Collaborative Center for X‐linked Dystonia‐Parkinsonism.
Research Areas and Centers
- Research Area: Medical Genetics
