Clinical phenotypes among patients with familial forms of Chiari malformation type 1
These results suggest that CM1 and its associated clinical phenotypes, including age of onset, clinical symptoms, neurological comorbidities, neurodevelopmental conditions, and CTDs, are genetically influenced. Whole-exome sequencing of CM1 patient-parent trios has the potential to identify the genetic determinants of CM1, with implications for neurosurgical management.
Authors
- Tyrone DeSpenza (ORCID: https://orcid.org/0000-0002-3789-6440)
- Shujuan Zhao
- Baojian Fan (ORCID: https://orcid.org/0000-0002-6851-2737)
- William Muñoz (ORCID: https://orcid.org/0000-0002-1354-3472)
- Seth L. Alper (ORCID: https://orcid.org/0000-0002-6228-2512)
- Carol Nelson‐Williams (ORCID: https://orcid.org/0000-0003-0768-4751)
- William E. Butler (ORCID: https://orcid.org/0000-0002-4249-565X)
- Garrett Allington (ORCID: https://orcid.org/0000-0002-5458-6129)
- Kristopher T. Kahle (ORCID: https://orcid.org/0000-0002-5922-7547)
- John Shohfi
- Neel H. Mehta (ORCID: https://orcid.org/0000-0002-5144-4635)
- Kedous Y. Mekbib (ORCID: https://orcid.org/0000-0003-2508-387X)
- Carla Fortes
- Eric M. Jackson
Institutions
- Broad Institute (US)
- Boston Children's Hospital (US)
- Beth Israel Deaconess Medical Center (US)
- Mayo Clinic (US)
- Harvard University (US)
- Johns Hopkins University (US)
- Duke University (US)
- Washington University in St. Louis (US)
- Johns Hopkins Medicine (US)
- Yale University (US)
- Massachusetts General Hospital (US)
- Columbia University (US)
Publication Details
- Journal
- Journal of Neurosurgery Pediatrics
- Published
- 2025-05-02
- DOI
- https://doi.org/10.3171/2025.1.peds24187
- Primary Topic
- Spinal Dysraphism and Malformations
- Type
- article
- Field-Weighted Citation Impact
- 0.00