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Spatial working memory in neurofibromatosis 1: Altered neural activity and functional connectivity
Amira F A Ibrahim1, Caroline A Montojo2, Kristen M Haut3
1Department of Psychology, University of Michigan, Ann Arbor, United States.
Neuroimage. Clinical
|July 21, 2017
Summary
Neurofibromatosis Type 1 (NF1) patients exhibit altered brain activity and connectivity during spatial working memory tasks. These neural differences, particularly in prefrontal and parietal regions, are linked to their characteristic cognitive deficits.
Area of Science:
- Neuroscience
- Genetics
- Cognitive Science
Background:
- Neurofibromatosis Type 1 (NF1) is a genetic disorder impacting central nervous system development and neuronal function.
- Cognitive impairments in NF1 include executive control and visuospatial deficits, with underlying neural mechanisms poorly understood.
Purpose of the Study:
- To investigate the neural substrates of spatial working memory (WM) deficits in adults with NF1.
- To explore brain activity and functional connectivity during visuospatial WM using Blood-Oxygen-Level-Dependent (BOLD) fMRI.
Main Methods:
- Acquired BOLD fMRI data from 23 adults with NF1 and 25 healthy controls during a visuospatial WM task.
- Employed whole-brain functional and psycho-physiological interaction analyses to examine neural activity and connectivity.
- Assessed spatial reasoning and verbal WM performance behaviorally.
Main Results:
- NF1 patients showed reduced activation in the left dorsolateral prefrontal cortex and right parietal cortex during WM tasks.
- Healthy controls displayed greater deactivation between the posterior cingulate cortex (PCC) and temporal regions compared to NF1 patients.
- NF1 patients exhibited altered PCC connectivity with visual cortices and the cerebellum, with increased frontal/parietal coupling correlating with better cognitive performance.
Conclusions:
- Dysfunctional engagement of working memory circuitry in NF1 contributes to spatial WM difficulties.
- Aberrant functional connectivity of 'task-negative' brain regions in NF1 patients may underlie their characteristic cognitive deficits.

