Neuroanatomical correlates of working memory performance in Neurofibromatosis 1

Sawyer, Cameron; Green, Jonathan; Lim, Ben; Pobric, Gorana; Jung, JeYoung; Vassallo, Grace; Evans, D Gareth; Stagg, Charlotte J; Parkes, Laura M; Stivaros, Stavros; Muhlert, Nils; Garg, Shruti

Abstract

Introduction: Neurofibromatosis 1 (NF1) is a single-gene disorder associated with cognitive impairments, particularly with deficits in
working memory. Prior research indicates that brain structure is affected in NF1, but it is unclear how these changes relate to aspects
of cognition.
Methods: 29 adolescents aged 11-17 years were compared to age and sex-matched controls. NF1 subjects were assessed using detailed
multimodal measurements of working memory at baseline followed by a 3T MR scan. A voxel-based morphometry approach was used
to estimate the total and regional gray matter(GM) volumetric differences between the NF1 and control groups. The working memory metrics were subjected to a principal component analysis (PCA) approach.
Results: The NF1 groups showed increased gray matter volumes in the thalamus, corpus striatum, dorsal midbrain and cerebellum
bilaterally in the NF1 group as compared to controls. Principal component analysis on the working memory metrics in the NF1 group
yielded three independent factors ref lecting high memory load, low memory load and auditory working memory. Correlation analyses
revealed that increased volume of posterior cingulate cortex, a key component of the default mode network (DMN) was significantly
associated with poorer performance on low working memory load tasks.
Conclusion: These results are consistent with prior work showing larger subcortical brain volumes in the NF1 cohort. The strong
association between posterior cingulate cortex volume and performance on low memory load conditions supports hypotheses of deficient DMN structural development, which in turn may contribute to the cognitive impairments in NF1.

Citation

Sawyer, C., Green, J., Lim, B., Pobric, G., Jung, J., Vassallo, G., Evans, D. G., Stagg, C. J., Parkes, L. M., Stivaros, S., Muhlert, N., & Garg, S. (2022). Neuroanatomical correlates of working memory performance in Neurofibromatosis 1. Cerebral Cortex Communications, 3(2), Article tgac021. https://doi.org/10.1093/texcom/tgac021

• Journal Article Type: Article
• Acceptance Date: May 11, 2022
• Online Publication Date: May 19, 2022
• Publication Date: Apr 1, 2022
• Deposit Date: Jun 11, 2022
• Publicly Available Date: Jun 17, 2022
• Journal: Cerebral Cortex Communications
• Print ISSN: 2632-7376
• Electronic ISSN: 2632-7376
• Publisher: Oxford University Press
• Peer Reviewed: Peer Reviewed
• Volume: 3
• Issue: 2
• Article Number: tgac021
• DOI: https://doi.org/10.1093/texcom/tgac021
• Keywords: General Medicine
• Public URL: https://nottingham-repository.worktribe.com/output/8435878
• Publisher URL: https://academic.oup.com/cercorcomms/article/3/2/tgac021/6588638?login=false