Genes, Vol. 15, Pages 508: Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms

Conclusion: Our work confirms clinical variability also in the ERCC6/CSB type, where manifestations may range from severe involvement with prenatal or neonatal onset to normal psychomotor development followed by progressive ataxia. We propose, for the first time in CS, sNFL as a useful peripheral biomarker, with increased levels compared to currently available reference values and with the potential ability to reflect disease severity.

Source: Genes - April 18, 2024 Category: Genetics & Stem Cells Authors: Jacopo Sartorelli Lorena Travaglini Marina Macchiaiolo Giacomo Garone Michaela Veronika Gonfiantini Davide Vecchio Lorenzo Sinibaldi Flaminia Frascarelli Viola Ceccatelli Sara Petrillo Fiorella Piemonte Gabriele Piccolo Antonio Novelli Daniela Longo Stefa Tags: Article Source Type: research