T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in male FMR1 premutation carriers
This study describes ICP hyperintensity as a new potential radiological finding in FXTAS, suggests involvement of the vestibulo-cerebellar, rostral, and posterior spinocerebellar tracts, and the vestibular system in FXTAS physiopathology, and reinforces the association of CGG expansion in the range of brain changes seen in FXTAS.
Authors
- Kyoungmi M. Kim
- Andrea Elias-Mas
- Jun Yi Wang (ORCID: https://orcid.org/0000-0002-1330-6987)
- Hagerman Rj
- Irene Paracuellos-Ayala
- Susan M. Rivera
- Andrea Schneider
- David Hessl
- Flora Tassone
Institutions
- Mútua Terrassa (ES)
- Institute of Research and Innovation Parc Tauli (ES)
- University of California Davis Medical Center (US)
- University of Maryland, College Park (US)
- Universitat de Barcelona (ES)
- University of California, Davis (US)
Publication Details
- Journal
- Frontiers in Molecular Neuroscience
- Published
- 2026-02-16
- DOI
- https://doi.org/10.3389/fnmol.2026.1720370
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Commission
- National Institutes of Health
- Intellectual and Developmental Disabilities Research Center
- Instituto de Salud Carlos III