期刊
MOVEMENT DISORDERS
卷 35, 期 11, 页码 1933-1938出版社
WILEY
DOI: 10.1002/mds.28289
关键词
X-linked dystonia-parkinsonism; MDSGene; database
资金
- Clinican Scientist Program of the University of Lubeck [CS06-2020]
- Parkinson's Disease Foundation [PF-VSASFW-1828]
- German Research Foundation
- Collaborative Center for X-linked Dystonia-Parkinsonism
- Else Kroner-Fresenius Foundation [2018_A55]
- Deutsche Forschungsgemeinschaft [WE5919/2-1]
- Edmond J. Safra fellowship in Movement Disorders from the Michael J. Fox Foundation
- Ipsen Pharma on Asian Clinical Trials for Botulinum Toxin Therapy
- Dystonia Medical Research Foundation
- Philippine Neurological Association
- Collaborative Center for X-linked Dystonia-Parkinsonism (CCXDP)
- Katholischer Akademischer Auslander-Dienst (K.A.A.D.)
- University of Lubeck
- NIH
- Movement Disorder Society
- MJFF
- BMBF
- European Commission
- MDS
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and engaged the research community to provide additional clinical and genetic information, and (2) revisited previously unpublished data from a cohort of XDP patients seen at our institution.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 We established the use of mining unpublished data to expand the MDSGene workflow and present an up-to-date description of the phenomenology of XDP using an extensive collection of previously reported and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. (c) 2020 International Parkinson and Movement Disorder Society
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