White matter is increased in the brains of adults with neurofibromatosis 1

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Abstract

Background

Neurofibromatosis 1 (NF1) is a rare autosomal dominant disease characterized by increased Schwann cell proliferation in peripheral nerves. Several small studies of brain morphology in children with NF1 have found increased total brain volume, total white matter volume and/or corpus callosum area. Some studies (mostly in children with NF1) also attempted to correlate changes in brain morphology and volume with cognitive or behavioural abnormalities, although the findings were inconsistent. We aimed to characterize alterations in brain volumes by three-dimensional (3D) MRI in adults with NF1 in major intracranial sub-regions. We also aimed to assess the effect of age on these volumes and correlated brain white matter and grey matter volumes with neuropsychometric findings in adults with NF1.

Methods

We obtained brain volume measurements using 3D magnetic resonance imaging for 351 adults with NF1 and, as a comparison group, 43 adults with neurofibromatosis 2 (NF2) or Schwannomatosis. We assessed a subset of 19 adults with NF1 for clinical severity of NF1 features and neurological problems and conducted psychometric testing for attention deficiencies and intelligence quotient. We compared brain volumes between NF1 patients and controls and correlated volumetric measurements to clinical and psychometric features in the NF1 patients.

Results

Total brain volume and total and regional white matter volumes were all significantly increased in adults with NF1. Grey matter volume decreased faster with age in adults with NF1 than in controls. Greater total brain volume and white matter volume were correlated with lower attention deficits and higher intelligence quotients in adults with NF1.

Conclusion

Our findings are consistent with the hypothesis that dysregulation of brain myelin production is a cardinal manifestation of NF1 and that these white matter changes may be functionally important in affected adults.

Supplementary Information

The online version contains supplementary material available at 10.1186/s13023-022-02273-1.

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Most cited references 39

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A fast diffeomorphic image registration algorithm.

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Unbiased average age-appropriate atlases for pediatric studies.

Vladimir Fonov, Alan Evans, Kelly Botteron … (2011)

Spatial normalization, registration, and segmentation techniques for Magnetic Resonance Imaging (MRI) often use a target or template volume to facilitate processing, take advantage of prior information, and define a common coordinate system for analysis. In the neuroimaging literature, the MNI305 Talairach-like coordinate system is often used as a standard template. However, when studying pediatric populations, variation from the adult brain makes the MNI305 suboptimal for processing brain images of children. Morphological changes occurring during development render the use of age-appropriate templates desirable to reduce potential errors and minimize bias during processing of pediatric data. This paper presents the methods used to create unbiased, age-appropriate MRI atlas templates for pediatric studies that represent the average anatomy for the age range of 4.5-18.5 years, while maintaining a high level of anatomical detail and contrast. The creation of anatomical T1-weighted, T2-weighted, and proton density-weighted templates for specific developmentally important age-ranges, used data derived from the largest epidemiological, representative (healthy and normal) sample of the U.S. population, where each subject was carefully screened for medical and psychiatric factors and characterized using established neuropsychological and behavioral assessments. Use of these age-specific templates was evaluated by computing average tissue maps for gray matter, white matter, and cerebrospinal fluid for each specific age range, and by conducting an exemplar voxel-wise deformation-based morphometry study using 66 young (4.5-6.9 years) participants to demonstrate the benefits of using the age-appropriate templates. The public availability of these atlases/templates will facilitate analysis of pediatric MRI data and enable comparison of results between studies in a common standardized space specific to pediatric research. Copyright © 2010 Elsevier Inc. All rights reserved.

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Author and article information

Contributors

Jan M. Friedman:

ORCID: http://orcid.org/0000-0002-7482-9570

jan.friedman@ubc.ca

Journal

Journal ID (nlm-ta): Orphanet J Rare Dis

Journal ID (iso-abbrev): Orphanet J Rare Dis

Title: Orphanet Journal of Rare Diseases

Publisher: BioMed Central (London )

ISSN (Electronic): 1750-1172

Publication date (Electronic): 5 March 2022

Publication date PMC-release: 5 March 2022

Publication date Collection: 2022

Volume: 17

Electronic Location Identifier: 115

Affiliations

[1 ]GRID grid.17091.3e, ISNI 0000 0001 2288 9830, Department of Medical Genetics, , University of British Columbia, Children’s and Women’s Hospital, ; 4500 Oak Street, Vancouver, BC V6H 3N1 Canada

[2 ]GRID grid.7468.d, ISNI 0000 0001 2248 7639, Department of Nuclear Medicine, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, , Humboldt-Universität zu Berlin and Berlin Institute of Health, ; Berlin, Germany

[3 ]GRID grid.13648.38, ISNI 0000 0001 2180 3484, Department of Nuclear Medicine, , University Hospital Hamburg-Eppendorf, ; Hamburg, Germany

[4 ]GRID grid.13648.38, ISNI 0000 0001 2180 3484, Department of Neurology, , University Hospital Hamburg-Eppendorf, ; Hamburg, Germany

Author information

Jan M. Friedman http://orcid.org/0000-0002-7482-9570

Article

Publisher ID: 2273

DOI: 10.1186/s13023-022-02273-1

PMC ID: 8898512

PubMed ID: 35248131

SO-VID: f006902d-0eb7-4fca-8e9c-c606712fac81

License:

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 11 September 2021

Date accepted : 27 February 2022

Funding

Funded by: Bundesverband Neurofibromatose organization

Custom metadata

ScienceOpen disciplines: Infectious disease & Microbiology

Keywords: neurofibromatosis 1,adult brain volumetry,white matter,neuropsychometric,age progression

Data availability:

ScienceOpen disciplines: Infectious disease & Microbiology

Keywords: neurofibromatosis 1, adult brain volumetry, white matter, neuropsychometric, age progression

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White matter is increased in the brains of adults with neurofibromatosis 1

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Abstract

Background

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China CDC Weekly: COVID19

Most cited references 39

Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication.

A fast diffeomorphic image registration algorithm.

Unbiased average age-appropriate atlases for pediatric studies.

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Cited by 3

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