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. 2022 May 19;3(2):tgac021.
doi: 10.1093/texcom/tgac021. eCollection 2022.

Neuroanatomical correlates of working memory performance in Neurofibromatosis 1

Cameron Sawyer  1 , Jonathan Green  1 , Ben Lim  2 , Gorana Pobric  1 , JeYoung Jung  3 , Grace Vassallo  4 , D Gareth Evans  4 , Charlotte J Stagg  5 , Laura M Parkes  1 , Stavros Stivaros  6 , Nils Muhlert  1 , Shruti Garg  1
Affiliations

Neuroanatomical correlates of working memory performance in Neurofibromatosis 1

Cameron Sawyer et al. Cereb Cortex Commun. .

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 reflecting 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.

Keywords: NF1; VBM; neuroimaging; working memory.

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Figures

Fig. 1
Fig. 1
Sagittal sections showing regions of increased gray matter volume in the NF1 group compared with healthy control, superimposed on the MNI152 brain. Numbers above each slice represent MNI x- coordinates. Warmer colors represent regions of greater volume difference (see heat-map scale at top for equivalent z-values).
Fig. 2
Fig. 2
Multiplanar view of hypertrophic GM areas associated with worse low memory load capacity in adolescents with NF1. The crosshair is set at the largest voxel cluster at x = −15. Warmer colors represent regions with greatest associations between gray matter volume and FAC2 scores.
Fig. 3
Fig. 3
Graph showing the distribution of the T2 hyperintensities in the NF1 cohort.
See this image and copyright information in PMC

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