Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force

Gutmann, David H, Anastasaki, Corina, Gupta, Aditi, Hou, Yang, Morris, Stephanie M, Payne, Jonathan M, Raber, Jacob, Tomchik, Seth M, Van Aelst, Linda, Walker, James A, Yohay, Kaleb H, CABIN Task Force (March 2025) Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force. Genes & Development. ISSN 0890-9369

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Abstract

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 NF1 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.

Item Type:	Paper
Subjects:	diseases & disorders diseases & disorders > mental disorders diseases & disorders > mental disorders > personality disorders organism description > animal behavior diseases & disorders > mental disorders > personality disorders > autism organism description > animal behavior > perception > cognition organism description > animal behavior > perception
CSHL Authors:	Van Aelst, Linda
Communities:	CSHL labs > Van Aelst lab
SWORD Depositor:	CSHL Elements
Depositing User:	CSHL Elements
Date:	24 March 2025
Date Deposited:	01 Apr 2025 13:27
Last Modified:	01 Apr 2025 13:27
Related URLs:	Publisher
URI:	https://repository.cshl.edu/id/eprint/41839

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