Pediatric neurology
The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.
Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, Alexandra Chapleau, Romy J van Voorst, Enrico Bertini, Francesco Nicita, Daniela Pohl, Sunita Venkateswaran, Stephanie Keller, Deborah Renaud, Dolores Gonzalez Moron, Marcelo Kauffman, Danilo De Assis Pereira, Adeline Vanderver
Published: 202510.1016/j.pediatrneurol.2025.12.004
Abstract
BACKGROUND: RNA polymerase III-related hypomyelinating leukodystrophy (POLR3-HLD) is a rare, neurodegenerative, brain white matter disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Due to the complex and progre…
Preview only. Read the full abstract at the source