Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders
PCDs are a heterogeneous disease group with a high proportion of genetic etiologies. Age of onset and certain clinical findings may help distinguish between different disease entities. The diagnostic yield of NGS has increased over time. Our dataset will support clinicians to recognize PCDs, their co-morbidities, and genetic etiologies. Further data on epidemiology, shared disease mechanisms, and the natural history of PCDs will be critical for the development of treatment approaches. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Heli Helander (ORCID: https://orcid.org/0000-0002-7319-3531)
- Renzo Guerrini (ORCID: https://orcid.org/0000-0002-7272-7079)
- Terhi S. Ruuska (ORCID: https://orcid.org/0000-0001-5433-4207)
- Jussi‐Pekka Tolonen (ORCID: https://orcid.org/0000-0002-7350-386X)
- Salla M. Kangas (ORCID: https://orcid.org/0000-0002-3644-5832)
- Tytti Pokka (ORCID: https://orcid.org/0000-0001-5488-5885)
- Jonna Komulainen‐Ebrahim (ORCID: https://orcid.org/0000-0002-3876-9830)
- Johanna Uusimaa (ORCID: https://orcid.org/0000-0002-6794-209X)
- Hanna Kallankari (ORCID: https://orcid.org/0000-0003-0738-7351)
- Reetta Hinttala (ORCID: https://orcid.org/0000-0002-7642-4008)
- Sanna Huhtaniska (ORCID: https://orcid.org/0000-0002-0292-2581)
- Maria Suo‐Palosaari (ORCID: https://orcid.org/0000-0002-5500-7168)
- Minna Honkila (ORCID: https://orcid.org/0000-0002-8288-9442)
- Jukka S. Moilanen (ORCID: https://orcid.org/0000-0002-8041-3205)
- Elisa Rahikkala (ORCID: https://orcid.org/0000-0003-2760-7059)
- Päivi Vieira (ORCID: https://orcid.org/0000-0002-0796-8706)
- Katariina Granath (ORCID: https://orcid.org/0009-0000-3167-6837)
- Juulia Ellonen
Institutions
- Oulu University Hospital (FI)
- Meyer Children's Hospital (IT)
- University of Florence (IT)
- University of Oulu (FI)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-05-06
- DOI
- https://doi.org/10.1002/mds.30210
- Citations
- 2
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- Suomen Lääketieteen Säätiö
- Medical Research Center Oulu
- Academy of Finland
- Lastentautien Tutkimussäätiö
- Sigrid Juséliuksen Säätiö
- Stiftelsen Alma och K. A. Snellman Säätiö