Clinical, Genetic, and Imaging Characteristics of <scp>SCA27B</scp> : Insights from a Large Dutch Cohort
Core SCA27B features emerge in those carrying GAA<sub>200-249</sub> expansions. SCA27B may mimic stroke in patients with episodic symptoms. In our cohort, later onset was associated with faster disease progression. The superior cerebellar peduncle sign may aid diagnosis, while relevance of white matter changes remains unclear. Positive response to 4-aminopyridine was reported in approximately half of patients. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Teije van Prooije (ORCID: https://orcid.org/0000-0002-6372-0801)
- Erica van der Looij
- J. de Vries
- Sirwan K.L. Darweesh (ORCID: https://orcid.org/0000-0002-4361-4593)
- Eva Maria Johanna de Boer (ORCID: https://orcid.org/0000-0002-2629-2748)
- Mark Huisman (ORCID: https://orcid.org/0000-0002-9009-7859)
- Jaron van de Wardt
- Dareia S. Roos (ORCID: https://orcid.org/0000-0001-7961-1768)
- Corien C. Verschuuren‐Bemelmans
- Roderick P.P.W.M. Maas (ORCID: https://orcid.org/0000-0003-0823-1287)
- Tsz Hang Wong
- Lisette Henriëtta Koens (ORCID: https://orcid.org/0000-0002-2864-4225)
- Maartje Pennings (ORCID: https://orcid.org/0000-0001-5485-7497)
- Martijn Beudel
- Christine Klein
- Arthur Buijink
- Judith van Gaalen
- Els Vanhoutte
- Bart van de Warrenburg
- Joanne Trinh
- Erik‐Jan Kamsteeg
- Vincent Odekerken
- Thatjana Gardeichik
- Thimo Cornelissen
- Mayke Oosterloo
- Meyke Schouten
- Jorrit I. Hoff
Institutions
- University Medical Center Groningen (NL)
- Radboud University Nijmegen (NL)
- Maastricht University Medical Centre (NL)
- Radboud University Medical Center (NL)
- University Medical Center Utrecht (NL)
- Maastricht University (NL)
- Medisch Centrum Haaglanden (NL)
- St. Antonius Ziekenhuis (NL)
- Amsterdam Neuroscience (NL)
- Martini Ziekenhuis (NL)
- University Hospital Schleswig-Holstein (DE)
- Isala (NL)
- Tergooi (NL)
- Rijnstate Hospital (NL)
- University of Lübeck (DE)
Publication Details
- Journal
- Movement Disorders
- Published
- 2026-01-08
- DOI
- https://doi.org/10.1002/mds.70190
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00