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Brain Imaging and Behavior

pp 1–10

First Online: 29 October 2016


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.

KeywordsNeurofibromatosis type I DTI Anterior thalamic radiation Executive functions  Download fulltext PDF

Autor: M. Koini - S. A. R. B. Rombouts - I. M. Veer - M. A. Van Buchem - S. C. J. Huijbregts

Fuente: https://link.springer.com/

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