<scp>GAA</scp> ‐ <scp> <i>FGF14</i> </scp> Expansions and <scp> <i>CACNA1A</i> </scp> Variants: Phenotypic Overlap and Diagnostic Implications
Late-onset ataxia cases previously considered as CACNA1A-related disorder should be reevaluated and tested for SCA27B, particularly if related to a VUS in CACNA1A. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Wolfgang Nachbauer (ORCID: https://orcid.org/0000-0001-8292-3690)
- Stephan Züchner (ORCID: https://orcid.org/0000-0002-8498-5235)
- Matthis Synofzik (ORCID: https://orcid.org/0000-0002-2280-7273)
- Elisabetta Indelicato (ORCID: https://orcid.org/0000-0003-0217-8630)
- David Pellerin (ORCID: https://orcid.org/0000-0002-5807-995X)
- Matthias Amprosi (ORCID: https://orcid.org/0000-0002-8786-9774)
- Zofia Fleszar
- Sylvia Boesch (ORCID: https://orcid.org/0000-0003-1657-7368)
- Andreas Traschütz (ORCID: https://orcid.org/0000-0002-8165-5898)
- Ludger J. Schöls (ORCID: https://orcid.org/0000-0001-7774-5025)
- Tobias B. Haack
- Bernard Brais
Institutions
- Montreal Neurological Institute and Hospital (CA)
- Innsbruck Medical University (AT)
- University of Miami (US)
- German Center for Neurodegenerative Diseases (DE)
- Dr. John T. Macdonald Foundation (US)
- Hertie Institute for Clinical Brain Research (DE)
- McGill University (CA)
- University of Tübingen (DE)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-08-19
- DOI
- https://doi.org/10.1002/mds.30328
- Citations
- 2
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- McGill University
- Deutsche Forschungsgemeinschaft
- Else Kröner-Fresenius-Stiftung
- Canadian Institutes of Health Research