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Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

Author

Listed:
  • Björn-Hergen Laabs

    (University Hospital Schleswig-Holstein)

  • Christine Klein

    (University of Lübeck)

  • Jelena Pozojevic

    (University of Lübeck
    University of Lübeck)

  • Aloysius Domingo

    (University of Lübeck
    Massachusetts General Hospital)

  • Norbert Brüggemann

    (University of Lübeck
    University of Lübeck)

  • Karen Grütz

    (University of Lübeck)

  • Raymond L. Rosales

    (University of Santo Tomas Hospital
    University of Santo Tomas Hospital)

  • Roland Dominic Jamora

    (University of the Philippines)

  • Gerard Saranza

    (University of the Philippines)

  • Cid Czarina E. Diesta

    (Makati Medical Center)

  • Michael Wittig

    (Christian-Albrechts-University of Kiel
    University Hospital Schleswig-Holstein (UKSH))

  • Susen Schaake

    (University of Lübeck)

  • Marija Dulovic-Mahlow

    (University of Lübeck)

  • Jana Quismundo

    (University of Lübeck)

  • Pia Otto

    (University of Lübeck)

  • Patrick Acuna

    (Massachusetts General Hospital)

  • Criscely Go

    (Jose Reyes Memorial Medical Center)

  • Nutan Sharma

    (Massachusetts General Hospital)

  • Trisha Multhaupt-Buell

    (Massachusetts General Hospital)

  • Ulrich Müller

    (Justus-Liebig-Universität)

  • Henrike Hanssen

    (University of Lübeck
    University of Lübeck)

  • Fabian Kilpert

    (University Hospital Essen and University of Duisburg-Essen)

  • Andre Franke

    (Christian-Albrechts-University of Kiel
    University Hospital Schleswig-Holstein (UKSH))

  • Arndt Rolfs

    (CENTOGENE GmbH
    University of Rostock)

  • Peter Bauer

    (CENTOGENE GmbH)

  • Valerija Dobričić

    (University of Lübeck
    University of Lübeck)

  • Katja Lohmann

    (University of Lübeck)

  • Laurie J. Ozelius

    (Massachusetts General Hospital)

  • Frank J. Kaiser

    (University of Lübeck
    University Hospital Essen and University of Duisburg-Essen
    Universitätstsmedizin Essen)

  • Inke R. König

    (University Hospital Schleswig-Holstein)

  • Ana Westenberger

    (University of Lübeck)

Abstract

X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for ~50% of age at onset variability. Employing a genome-wide association study to identify additional factors modifying age at onset, we establish that three independent loci are significantly associated with age at onset (p

Suggested Citation

  • Björn-Hergen Laabs & Christine Klein & Jelena Pozojevic & Aloysius Domingo & Norbert Brüggemann & Karen Grütz & Raymond L. Rosales & Roland Dominic Jamora & Gerard Saranza & Cid Czarina E. Diesta & Mi, 2021. "Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism," Nature Communications, Nature, vol. 12(1), pages 1-8, December.
    • Handle: RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-23491-4
    DOI: 10.1038/s41467-021-23491-4
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