[Articles] Spontaneous spinal CSF leaks: a rare variant exome sequencing study and functional analysis

The study investigates spontaneous spinal cerebrospinal fluid (CSF) leaks. Researchers identified rare deleterious variants in the FBN2 gene that may cause type 1b spontaneous spinal CSF leaks. The findings support the integration of FBN2 genetic testing into clinical practice. Similar to other connective tissue diseases, disruption of cell adhesion to extracellular matrix proteins contributes to the pathophysiology of spontaneous spinal CSF leaks. Scientists plan to develop mouse models of these leaks to aid in the development of pharmacological therapeutic strategies.