Caroline G Bergner, Marjolein Breur, M Clara Soto-Bernardini, Lisa Schäfer, Julia Lier, Diana Le Duc, Linnaeus Bundalian, Susanna Schubert, David Brenner, Friedmar R Kreuz, Björn Schulte, Quinten Waisfisz, Marianna Bugiani, Wolfgang Köhler, Heinrich Sticht, Rami Abou Jamra, Marjo S van der Knaap
Leukodystrophies are rare genetic white matter disorders that have been regarded as mainly occurring in childhood. Recent years altered this perception, as a growing number of leukodystrophies was described to have an onset at adult ages. Still, many adult patients presenting with white matter changes remain without a specific molecular diagnosis. We describe a novel adult onset leukodystrophy in 16 patients from eight families carrying one of four different stop-gain or frameshift dominant variants in the CST3 gene...
March 15, 2024: Brain