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

doi:10.1002/mds.28289

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

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and engaged the research community to provide additional clinical and genetic information, and (2) revisited previously unpublished data from a cohort of XDP patients seen at our institution.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 We established the use of mining unpublished data to expand the MDSGene workflow and present an up-to-date description of the phenomenology of XDP using an extensive collection of previously reported and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	https://doi.org/10.1002/mds.28289
Publication status	Published - 11.2020

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Research Area: Medical Genetics

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Pauly, M. G., Ruiz López, M., Westenberger, A., Saranza, G., Brüggemann, N., Weissbach, A., Rosales, R. L., Diesta, C. C., Jamora, R. D. G., Reyes, C. J., Madoev, H., Petkovic, S., Ozelius, L. J., Klein, C., & Domingo, A. (2020). Expanding Data Collection for the MDSGene Database: X-Linked Dystonia-Parkinsonism as Use Case Example. Movement Disorders, 35(11), 1933-1938. https://doi.org/10.1002/mds.28289

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

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.",

author = "Pauly, {Martje G.} and {Ruiz L{\'o}pez}, Marta and Ana Westenberger and Gerard Saranza and Norbert Br{\"u}ggemann and Anne Weissbach and Rosales, {Raymond L.} and Diesta, {Cid C.} and Jamora, {Roland D.G.} and Reyes, {Charles J.} and Harutyun Madoev and Sonja Petkovic and Ozelius, {Laurie J.} and Christine Klein and Aloysius Domingo",

note = "Publisher Copyright: {\textcopyright} 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",

year = "2020",

month = nov,

doi = "10.1002/mds.28289",

language = "English",

volume = "35",

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journal = "Movement Disorders",

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Pauly, MG, Ruiz López, M, Westenberger, A, Saranza, G, Brüggemann, N , Weissbach, A, Rosales, RL, Diesta, CC, Jamora, RDG, Reyes, CJ, Madoev, H, Petkovic, S, Ozelius, LJ, Klein, C & Domingo, A 2020, 'Expanding Data Collection for the MDSGene Database: X-Linked Dystonia-Parkinsonism as Use Case Example', Movement Disorders, vol. 35, no. 11, pp. 1933-1938. https://doi.org/10.1002/mds.28289

TY - JOUR

T1 - Expanding Data Collection for the MDSGene Database: X-Linked Dystonia-Parkinsonism as Use Case Example

AU - Pauly, Martje G.

AU - Ruiz López, Marta

AU - Westenberger, Ana

AU - Saranza, Gerard

AU - Brüggemann, Norbert

AU - Weissbach, Anne

AU - Rosales, Raymond L.

AU - Diesta, Cid C.

AU - Jamora, Roland D.G.

AU - Reyes, Charles J.

AU - Madoev, Harutyun

AU - Petkovic, Sonja

AU - Ozelius, Laurie J.

AU - Klein, Christine

AU - Domingo, Aloysius

N1 - Publisher Copyright: © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.

PY - 2020/11

Y1 - 2020/11

N2 - 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.

AB - 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.

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SN - 0885-3185

VL - 35

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JO - Movement Disorders

JF - Movement Disorders

IS - 11

ER -

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

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