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Brain Imaging Behav. 2017 Dec;11(6):1731-1740. doi: 10.1007/s11682-016-9641-3.

White matter microstructure of patients with neurofibromatosis type 1 and its relation to inhibitory control.

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Institute of Psychology, Leiden University, Leiden, The Netherlands.
Leiden Institute for Brain and Cognition (LIBC), Leiden University, Leiden, The Netherlands.
Department of Neurology, Medical University of Graz, Auenbruggerplatz 22, A-8036, Graz, Austria.
Institute of Psychology, Leiden University, Leiden, The Netherlands.
Leiden Institute for Brain and Cognition (LIBC), Leiden University, Leiden, The Netherlands.
Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands.
Department of Psychiatry and Psychotherapy, Division of Mind and Brain Research, Charité Universitaetsmedizin Berlin, Berlin, Germany.
Department of Clinical Child and Adolescent Studies, Leiden University, Leiden, The Netherlands.


Neurofibromatosis Type 1 (NF1) is commonly associated with deficits in executive functions such as working memory and inhibitory control. A valid biomarker to describe the pathological basis of these deficits in NF1 is not available. The aim of this study was to investigate whether any abnormalities in white matter integrity of the executive function related anterior thalamic radiation (ATR), cingulate bundle (CB), and superior longitudinal fasciculus (SLF) may be regarded as a pathological basis for inhibitory control deficits in adolescents with NF1. Sixteen NF1 patients and 32 healthy controls underwent 3 T DTI MRI scanning. Whole brain-, ATR-, CB-, and SLF-white matter integrity were studied using fractional anisotropy, mean (MD), radial, and axial (DA) diffusivity. Correlation analyses between white matter metrics and inhibitory control (as measured with a computerized task) were performed. Also, verbal and performance abilities (IQ-estimates) were assessed and correlated with white matter metrics. Patients showed significant whole brain- and local microstructural pathology when compared to healthy controls in all measures. In NF1-patients, whole-brain (MD: r = .646 and DA: r = .673) and ATR- (r-range: -.405-.771), but not the CB- (r-range: -.307-.472) and SLF- (r-range: -.187-.406) white matter integrity, were correlated with inhibitory control. Verbal and performance abilities were not associated with white matter pathology. In NF1, white matter abnormalities are observed throughout the brain, but damage to the ATR seems specifically, or at least most strongly related to inhibitory control. Future studies should examine whether reduced white matter integrity in other brain regions or tracts is (more strongly) associated with different aspects of the cognitive-behavioral phenotype associated with NF1.


Anterior thalamic radiation; DTI; Executive functions; Neurofibromatosis type I

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