Neurocognition, cerebellar functions and psychiatric features in spinocerebellar ataxia type 34: a case series
Individuals with SCA34 show cerebellar degeneration accompanied by cognitive, motor, and social-affective impairments consistent with CCAS. Atrophy of the vermis, multiple lobules, and cerebellar peduncles align with these deficits, highlighting the cerebellum's key role in cognition. ELOVL4-related disruptions in fatty acid biosynthesis provides insight into the molecular basis of SCA34. Together, these findings advance our understanding of how cerebellar pathology contributes to complex neurocognitive and psychiatric symptoms in genetic ataxias.
Authors
- Boel Hansson (ORCID: https://orcid.org/0000-0002-6417-6078)
- Markus Nilsson (ORCID: https://orcid.org/0000-0002-3140-8223)
- Nikos Priovoulos (ORCID: https://orcid.org/0000-0001-5661-6670)
- Karin Markenroth Bloch (ORCID: https://orcid.org/0000-0002-3310-6667)
- Anders Rasmussen (ORCID: https://orcid.org/0000-0003-4477-369X)
- Lena Kirchhoff
- Danielle van Westen (ORCID: https://orcid.org/0000-0001-8649-9874)
- Sorina Gorcenco (ORCID: https://orcid.org/0000-0002-7776-6691)
- Maurizio Cundari (ORCID: https://orcid.org/0000-0002-4825-2130)
- Sigurd Dobloug
- Linda Wennberg (ORCID: https://orcid.org/0000-0002-4688-1507)
- Susanna Vestberg
Institutions
- Lund University (SE)
- Wellcome Centre for Integrative Neuroimaging (GB)
- Helsingborgs lasarett (SE)
- Skåne University Hospital (SE)
- Spinoza Centre for Neuroimaging (NL)
Publication Details
- Journal
- Frontiers in Computational Neuroscience
- Published
- 2025-12-09
- DOI
- https://doi.org/10.3389/fncom.2025.1710961
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Gyllenstiernska Krapperupsstiftelsen
- Lunds Universitet
- Vetenskapsrådet