Review
Open access
Aug 2026
Childhood-Onset Neurodegeneration and Brain Atrophy: Defining UBTF-Related Developmental Regression and Progressive Ataxia
UBTF-related CONDBA presents with early normal or mildly delayed development followed by regression and progressive ataxia, and elevated NFL may serve as a biomarker of neuronal injury in both humans and animal models.
A. Nagy, A. Luddy, Francine Molay et al.
· Journal of Medical Genetics · 0 citations