Publications by authors named "Thomas Bruels"
Article Synopsis
- Cockayne syndrome (CS) is a rare genetic disorder causing premature aging and various neurological issues, but the clinical features of neurodegeneration, especially in later stages, are not well understood.
- A study examined medical records of individuals with CS who lived beyond 18 years across three countries to identify common neurological complications, finding that most showed significant neurocognitive and physical decline.
- Results indicated that nearly all participants experienced neurocognitive/neuropsychiatric symptoms, with high rates of tremors, peripheral neuropathy, and observable brain atrophy, suggesting a link between DNA repair defects in CS and broader neurodegenerative processes.
Background: Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases.
Methods: We ascertained five individuals with monoallelic pathogenic variants in MORC2, previously associated with three dominantly inherited phenotypes: an axonal form of Charcot-Marie-Tooth disease type 2Z; a syndrome of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy; and a rare form of spinal muscular atrophy.