Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force
Individuals with neurofibromatosis type 1 (NF1) are prone to the evolution of neurodevelopmental symptomatology including motor delays, learning disabilities, autism, and attention deficits. Caused by heterozygous germline mutations in the <i>NF1</i> gene, this monogenic condition offers unique opportunities to study the genetic etiologies for neurodevelopmental disorders and the mechanisms that underlie their formation. Although numerous small animal models have been generated to elucidate the causes of these alterations, there is little consensus on how to align preclinical observations with clinical outcomes, harmonize findings across species, and consolidate these insights to chart a cohesive path forward. Capitalizing on expertise from clinicians; human, animal, and cellular model research scientists; and bioinformatics researchers, the first Cognition and Behavior in NF1 (CABIN) meeting was convened at the Banbury Center of Cold Spring Harbor Laboratory in October 2024. This Perspective summarizes the state of our understanding and a proposed plan for future investigation and exploration to improve the quality of life of those with NF1.
Authors
- James A. Walker (ORCID: https://orcid.org/0000-0001-5585-698X)
- Jonathan M. Payne (ORCID: https://orcid.org/0000-0001-9565-3845)
- Seth M. Tomchik (ORCID: https://orcid.org/0000-0001-5686-0833)
- Yang Hou (ORCID: https://orcid.org/0000-0002-7360-5751)
- Aditi Gupta (ORCID: https://orcid.org/0000-0002-6286-802X)
- Kaleb Yohay (ORCID: https://orcid.org/0000-0001-5560-3392)
- Jacob Raber (ORCID: https://orcid.org/0000-0002-9861-9893)
- Corina Anastasaki (ORCID: https://orcid.org/0000-0002-9928-6488)
- David H. Gutmann (ORCID: https://orcid.org/0000-0002-3127-5045)
- Linda Van Aelst (ORCID: https://orcid.org/0000-0002-0870-012X)
- Stephanie M. Morris (ORCID: https://orcid.org/0000-0003-0461-1098)
Institutions
- Oregon National Primate Research Center (US)
- Florida State University (US)
- University of Iowa (US)
- Kennedy Krieger Institute (US)
- Harvard University (US)
- Oregon Health & Science University (US)
- The University of Melbourne (AU)
- Washington University in St. Louis (US)
- Cold Spring Harbor Laboratory (US)
- NYU Langone Health (US)
- Massachusetts General Hospital (US)
- Murdoch Children's Research Institute (AU)
- Center for Systems Biology (US)
- Center for Autism and Related Disorders (US)
Publication Details
- Journal
- Genes & Development
- Published
- 2025-03-24
- DOI
- https://doi.org/10.1101/gad.352629.125
- Citations
- 3
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article