Alterations in brain morphology by MRI in adults with neurofibromatosis 1

Abstract Objective Neurofibromatosis 1 (NF1) is a rare autosomal dominant disease that causes the dysregulated growth of Schwann cells. Most reported studies of brain morphology in NF1 patients have included only children, and clinical implications of the observed changes later in life remain unclea...

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Autores principales:	Su Wang, Victor-Felix Mautner, Ralph Buchert, Stephane Flibotte, Per Suppa, Jan M. Friedman, Manraj K. S. Heran
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Medicine R
Acceso en línea:	https://doaj.org/article/c521ff73b5e347c99e88f023201c6bbe
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spelling	oai:doaj.org-article:c521ff73b5e347c99e88f023201c6bbe2021-11-08T10:56:58ZAlterations in brain morphology by MRI in adults with neurofibromatosis 110.1186/s13023-021-02097-51750-1172https://doaj.org/article/c521ff73b5e347c99e88f023201c6bbe2021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02097-5https://doaj.org/toc/1750-1172Abstract Objective Neurofibromatosis 1 (NF1) is a rare autosomal dominant disease that causes the dysregulated growth of Schwann cells. Most reported studies of brain morphology in NF1 patients have included only children, and clinical implications of the observed changes later in life remain unclear. In this study, we used MRI to characterize brain morphology in adults with NF1. Methods Planar (2D) MRI measurements of 29 intracranial structures were compared in 389 adults with NF1 and 112 age- and sex-matched unaffected control subjects. The 2D measurements were correlated with volumetric (3D) brain measurements in 99 of the adults with NF1 to help interpret the 2D findings. A subset (n = 70) of these NF1 patients also received psychometric testing for attention deficits and IQ and was assessed for clinical severity of NF1 features and neurological problems. Correlation analysis was performed between the MRI measurements and clinical and psychometric features of these patients. Results Four of nine corpus callosum measurements were significantly greater in adults with NF1 than in sex- and age-matched controls. All seven brainstem measurements were significantly greater in adults with NF1 than in controls. Increased corpus callosum and brainstem 2D morphology were correlated with increased total white matter volume among the NF1 patients. No robust correlations were observed between the 2D size of these structures and clinical or neuropsychometric assessments. Conclusion Our findings are consistent with the hypothesis that dysregulation of brain myelin production is an important manifestation of NF1 in adults.Su WangVictor-Felix MautnerRalph BuchertStephane FlibottePer SuppaJan M. FriedmanManraj K. S. HeranBMCarticleMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R
spellingShingle	Medicine R Su Wang Victor-Felix Mautner Ralph Buchert Stephane Flibotte Per Suppa Jan M. Friedman Manraj K. S. Heran Alterations in brain morphology by MRI in adults with neurofibromatosis 1
description	Abstract Objective Neurofibromatosis 1 (NF1) is a rare autosomal dominant disease that causes the dysregulated growth of Schwann cells. Most reported studies of brain morphology in NF1 patients have included only children, and clinical implications of the observed changes later in life remain unclear. In this study, we used MRI to characterize brain morphology in adults with NF1. Methods Planar (2D) MRI measurements of 29 intracranial structures were compared in 389 adults with NF1 and 112 age- and sex-matched unaffected control subjects. The 2D measurements were correlated with volumetric (3D) brain measurements in 99 of the adults with NF1 to help interpret the 2D findings. A subset (n = 70) of these NF1 patients also received psychometric testing for attention deficits and IQ and was assessed for clinical severity of NF1 features and neurological problems. Correlation analysis was performed between the MRI measurements and clinical and psychometric features of these patients. Results Four of nine corpus callosum measurements were significantly greater in adults with NF1 than in sex- and age-matched controls. All seven brainstem measurements were significantly greater in adults with NF1 than in controls. Increased corpus callosum and brainstem 2D morphology were correlated with increased total white matter volume among the NF1 patients. No robust correlations were observed between the 2D size of these structures and clinical or neuropsychometric assessments. Conclusion Our findings are consistent with the hypothesis that dysregulation of brain myelin production is an important manifestation of NF1 in adults.
format	article
author	Su Wang Victor-Felix Mautner Ralph Buchert Stephane Flibotte Per Suppa Jan M. Friedman Manraj K. S. Heran
author_facet	Su Wang Victor-Felix Mautner Ralph Buchert Stephane Flibotte Per Suppa Jan M. Friedman Manraj K. S. Heran
author_sort	Su Wang
title	Alterations in brain morphology by MRI in adults with neurofibromatosis 1
title_short	Alterations in brain morphology by MRI in adults with neurofibromatosis 1
title_full	Alterations in brain morphology by MRI in adults with neurofibromatosis 1
title_fullStr	Alterations in brain morphology by MRI in adults with neurofibromatosis 1
title_full_unstemmed	Alterations in brain morphology by MRI in adults with neurofibromatosis 1
title_sort	alterations in brain morphology by mri in adults with neurofibromatosis 1
publisher	BMC
publishDate	2021
url	https://doaj.org/article/c521ff73b5e347c99e88f023201c6bbe
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Alterations in brain morphology by MRI in adults with neurofibromatosis 1

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