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  • Prasuhn, JannikUniv Lubeck, Inst Neurogenet, Lubeck, Germany.;Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany. (författare)

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

  • Artikel/kapitelEngelska2021

Förlag, utgivningsår, omfång ...

  • Elsevier,2021
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:uu-447722
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-447722URI
  • https://doi.org/10.1016/j.parkreldis.2021.03.028DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

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Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • 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.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Borsche, MaxUniv Lubeck, Inst Neurogenet, Lubeck, Germany.;Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany. (författare)
  • Hicks, Andrew A.Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy. (författare)
  • Goegele, MartinUniv Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy. (författare)
  • Egger, ClemensUniv Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy. (författare)
  • Kritzinger, CleoUniv Lubeck, Inst Neurogenet, Lubeck, Germany. (författare)
  • Pichler, IreneUniv Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy. (författare)
  • Castelo-Rueda, Maria PaulinaUniv Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy. (författare)
  • Langlott, LynnUniv Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany. (författare)
  • Kasten, MeikeUniv Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany.;Univ Med Ctr Schleswig Holstein, Dept Psychiat, Campus Lubeck, Lubeck, Germany. (författare)
  • Mascalzoni, Deborah,1973-Uppsala universitet,Centrum för forsknings- och bioetik,Univ Lubeck, Affiliated Inst, Eurac Res, Inst Biomed, Bolzano, Italy(Swepub:uu)debma696 (författare)
  • Klein, ChristineUniv Lubeck, Inst Neurogenet, Lubeck, Germany. (författare)
  • Pramstaller, Peter P.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. (författare)
  • Brueggemann, NorbertUniv Lubeck, Inst Neurogenet, Lubeck, Germany.;Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany. (författare)
  • 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)

Sammanhörande titlar

  • Ingår i:Parkinsonism & Related Disorders: Elsevier86, s. 101-1041353-80201873-5126

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