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Prasuhn J, Borsche M, Hicks AA, et al. Task matters - challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls. Parkinsonism Relat Disord. 2021;86:101-104doi: 10.1016/j.parkreldis.2021.03.028.
Prasuhn, J., Borsche, M., Hicks, A. A., Gögele, M., Egger, C., Kritzinger, C., Pichler, I., Castelo-Rueda, M. P., Langlott, L., Kasten, M., Mascalzoni, D., Klein, C., Pramstaller, P. P., & Brüggemann, N. (2021). Task matters - challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls. Parkinsonism & related disorders, 86101-104. https://doi.org/10.1016/j.parkreldis.2021.03.028
Prasuhn, Jannik, et al. "Task matters - challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls." Parkinsonism & related disorders vol. 86 (2021): 101-104. doi: https://doi.org/10.1016/j.parkreldis.2021.03.028
Prasuhn J, Borsche M, Hicks AA, Gögele M, Egger C, Kritzinger C, Pichler I, Castelo-Rueda MP, Langlott L, Kasten M, Mascalzoni D, Klein C, Pramstaller PP, Brüggemann N. Task matters - challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls. Parkinsonism Relat Disord. 2021 May;86:101-104. doi: 10.1016/j.parkreldis.2021.03.028. Epub 2021 Apr 20. PMID: 33895538.
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Parkinsonism Relat Disord. 2021 May;86:101-104. doi: 10.1016/j.parkreldis.2021.03.028. Epub 2021 Apr 20.

Task matters - challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls.

Parkinsonism & related disorders

Jannik Prasuhn, Max Borsche, Andrew A Hicks, Martin Gögele, Clemens Egger, Cleo Kritzinger, Irene Pichler, Maria Paulina Castelo-Rueda, Lynn Langlott, Meike Kasten, Deborah Mascalzoni, Christine Klein, Peter P Pramstaller, Norbert Brüggemann

Affiliations

  1. Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
  2. Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.
  3. Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  4. Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
  5. Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany; Department of Psychiatry, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
  6. Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy; Center for Research Ethics and Bioethics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden.
  7. Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany; Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy; Department of Neurology, Central Hospital, Bolzano, Italy.
  8. Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany. Electronic address: [email protected].

PMID: 33895538 DOI: 10.1016/j.parkreldis.2021.03.028

Abstract

BACKGROUND: Heterozygous carriers of Parkin mutations are suggested to be at risk of developing Parkinson's disease, while biallelic variants are associated with typical autosomal recessive early-onset PD. Investigating unaffected heterozygous mutation carriers holds the potential of a deeper understanding of monogenic PD and has implications for PD in general, in particular regarding the prodromal phase.

OBJECTIVES: To discriminate healthy Parkin mutation carriers from healthy non-mutation carriers using a multimodal approach.

METHODS: Twenty-seven healthy heterozygous Parkin mutation carriers (13 female. age: 48 ± 13 years) and 24 healthy non-mutation carriers (14 female. age: 48 ± 15 years) from the CHRIS study (Cooperative Health Research in South Tyrol) were recalled based on their genetic profile and underwent a blinded assessment of motor and non-motor PD symptoms, transcranial sonography and sensor-based posturography and gait analyses under different conditions with increasing difficulty. For the latter, gradient-boosted trees were used to discriminate between carriers and non-carriers. The classification accuracy and the area under the curve of the receiver-operator characteristics curve were calculated.

RESULTS: We observed no differences concerning motor or non-motor symptoms and substantia nigra hyperechogenicity. The best gradient-boosted trees-based model on posturography measurements (tandem feet, eyes closed, firm surface), however, showed a classification accuracy of up to 86%. The best-performing gradient-boosted trees-based model for gait analyses showed a balanced accuracy of up to 87% (dual-tasking).

CONCLUSIONS: Sensor-based quantification of movements allows to discriminate unaffected heterozygous mutation carriers from mutation-free controls. Thereby, it is crucial to challenge the motor system with more difficult tasks to unmask subtle motor alterations.

Copyright © 2021 Elsevier Ltd. All rights reserved.

Keywords: Gait analysis; Genetic PD; Parkin; Parkinson's disease (PD); Wearables

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