Pathogenic Variation in Fibrillin-2 Confers Susceptibility to Spontaneous Cerebrospinal Fluid Leaks Through Impairment of Cellular Adhesion (S35.005)
To investigate whether patients with spontaneous spinal cerebrospinal fluid leaks (ssCSFLs) have a higher frequency of rare variants in a single gene that could predispose them to this condition, and to study these variants’ effects on cell function and dural homeostasis in mice.
Authors
- Chrystina Parks
- Emily E. Juzwiak (ORCID: https://orcid.org/0000-0001-9293-684X)
- Renan Paulo Martin (ORCID: https://orcid.org/0000-0002-6747-8784)
- Clair Baldock (ORCID: https://orcid.org/0000-0003-3497-1959)
- Bart Loeys (ORCID: https://orcid.org/0000-0003-3703-9518)
- Mukti Singh (ORCID: https://orcid.org/0000-0002-3758-7373)
- Nara Sobreira (ORCID: https://orcid.org/0000-0002-5228-5613)
- Elizabeth Wohler (ORCID: https://orcid.org/0000-0001-6189-9839)
- Silke Peeters (ORCID: https://orcid.org/0000-0001-6705-6429)
- Wouter I. Schievink (ORCID: https://orcid.org/0000-0001-5494-0688)
- Hal Dietz
- Xinyi Sun (ORCID: https://orcid.org/0000-0003-4403-0431)
Institutions
- Cedars-Sinai Medical Center (US)
- Johns Hopkins University (US)
- University of Antwerp (BE)
- University of Manchester (GB)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000211344
- Citations
- 1
- Primary Topic
- Neurosurgical Procedures and Complications
- Type
- article
- Field-Weighted Citation Impact
- 1.39