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Task matters-challe...
Task matters-challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls
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- Prasuhn, Jannik (author)
- Univ Lubeck, Inst Neurogenet, Lubeck, Germany.;Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany.
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- Borsche, Max (author)
- Univ Lubeck, Inst Neurogenet, Lubeck, Germany.;Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany.
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- Hicks, Andrew A. (author)
- Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy.
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- Goegele, Martin (author)
- Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy.
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- Egger, Clemens (author)
- Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy.
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- Kritzinger, Cleo (author)
- Univ Lubeck, Inst Neurogenet, Lubeck, Germany.
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- Pichler, Irene (author)
- Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy.
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- Castelo-Rueda, Maria Paulina (author)
- Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy.
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- Langlott, Lynn (author)
- Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany.
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- Kasten, Meike (author)
- Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany.;Univ Med Ctr Schleswig Holstein, Dept Psychiat, Campus Lubeck, Lubeck, Germany.
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- Mascalzoni, Deborah, 1973- (author)
- Uppsala universitet,Centrum för forsknings- och bioetik,Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy
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- Klein, Christine (author)
- Univ Lubeck, Inst Neurogenet, Lubeck, Germany.
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- Pramstaller, Peter P. (author)
- Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany.;Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy.;Cent Hosp, Dept Neurol, Bolzano, Italy.
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- Brueggemann, Norbert (author)
- Univ Lubeck, Inst Neurogenet, Lubeck, Germany.;Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany.
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Univ Lubeck, Inst Neurogenet, Lubeck, Germany;Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany. Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy. (creator_code:org_t)
- Elsevier, 2021
- 2021
- English.
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In: Parkinsonism & Related Disorders. - : Elsevier. - 1353-8020 .- 1873-5126. ; 86, s. 101-104
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- 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 gradientboosted 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- Gait analysis
- Parkin
- Wearables
- Genetic PD
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Prasuhn, Jannik
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Borsche, Max
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Hicks, Andrew A.
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Goegele, Martin
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Egger, Clemens
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Kritzinger, Cleo
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show more...
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Pichler, Irene
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Castelo-Rueda, M ...
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Langlott, Lynn
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Kasten, Meike
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Mascalzoni, Debo ...
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Klein, Christine
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Pramstaller, Pet ...
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Brueggemann, Nor ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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Parkinsonism & R ...
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Uppsala University