The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohortResearch in context

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohortResearch in context

Summary: Background: While most sporadic adult-onset neurodegenerative diseases have only a minor monogenic component, given several recently identified late adult-onset ataxia genes, the genetic burden may be substantial in sporadic adult-onset ataxias. We report systematic mapping of the genetic...

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Main Authors: Danique Beijer, David Mengel, Demet Önder, Carlo Wilke, Andreas Traschütz, Jennifer Faber, Dagmar Timmann, Sylvia Boesch, Stefan Vielhaber, Thomas Klopstock, Bart P. van de Warrenburg, Gabriella Silvestri, Christoph Kamm, Iselin Marie Wedding, Zofia Fleszar, Florian Harmuth, Claudia Dufke, Bernard Brais, Olaf Rieß, Ludger Schöls, Tobias Haack, Stephan Züchner, David Pellerin, Thomas Klockgether, Matthis Synofzik, Friedrich Erdlenbruch, Andreas Thieme, Judith van Gaalen, Christos Ganos, Jun-Suk Kang, Marcus Grobe-Einsler, Ilaria Giordano
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:EBioMedicine
Subjects:
Sporadic ataxia
Adult-onset ataxia
Multiple system atrophy
Genomics
SCA27B
CANVAS
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396425001598
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