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

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Search: WFRF:(Goegele Martin) > (2021) > Task matters-challe...

2 of 2
Previous record
Next record
To hitlist

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

Prasuhn, Jannik (author): Univ Lubeck, Inst Neurogenet, Lubeck, Germany.;Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany.

Borsche, Max (author): Univ Lubeck, Inst Neurogenet, Lubeck, Germany.;Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany.

Hicks, Andrew A. (author): Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy.

Goegele, Martin (author): Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy.

Egger, Clemens (author): Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy.

Kritzinger, Cleo (author): Univ Lubeck, Inst Neurogenet, Lubeck, Germany.

Pichler, Irene (author): Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy.

Castelo-Rueda, Maria Paulina (author): Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy.

Langlott, Lynn (author): Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany.

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.

Mascalzoni, Deborah, 1973- (author): Uppsala universitet,Centrum för forsknings- och bioetik,Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy

Klein, Christine (author): Univ Lubeck, Inst Neurogenet, Lubeck, Germany.

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.

Brueggemann, Norbert (author): Univ Lubeck, Inst Neurogenet, Lubeck, Germany.;Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany.

show less...

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.
In: Parkinsonism & Related Disorders. - : Elsevier. - 1353-8020 .- 1873-5126. ; 86, s. 101-104

Related links:: https://urn.kb.se/re...; show more...; https://doi.org/10.1...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

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)

Find in a library

Parkinsonism & Related Disorders (Search for host publication in LIBRIS)

To the university's database

2 of 2
Previous record
Next record
To hitlist

Find more in SwePub

By the author/editor: Prasuhn, Jannik; Borsche, Max; Hicks, Andrew A.; Goegele, Martin; Egger, Clemens; Kritzinger, Cleo; show more...; Pichler, Irene; Castelo-Rueda, M ...; Langlott, Lynn; Kasten, Meike; Mascalzoni, Debo ...; Klein, Christine; Pramstaller, Pet ...; Brueggemann, Nor ...; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Neurology

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Neurosciences

Articles in the publication: Parkinsonism & R ...

By the university: Uppsala University

Search outside SwePub

Extend your search to:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se