Distinct patterns of white matter hyperintensity and cortical thickness of CSF1R-related leukoencephalopathy compared with subcortical ischemic vascular dementia

Seung Joo Kim; Wanzee Cho; Hee Jin Kim; Duk L Na; Sang Won Seo; Na-Yeon Jung; Jae-Hyeok Lee; Myung Jun Lee; Heeyoung Kang; Joon-Kyung Seong; Eun-Joo Kim

doi:10.1371/journal.pone.0308989

Distinct patterns of white matter hyperintensity and cortical thickness of CSF1R-related leukoencephalopathy compared with subcortical ischemic vascular dementia

PLoS One. 2024 Oct 7;19(10):e0308989. doi: 10.1371/journal.pone.0308989. eCollection 2024.

Authors

Seung Joo Kim^{1

2}, Wanzee Cho³, Hee Jin Kim^{2

4

5}, Duk L Na^{2

4}, Sang Won Seo^{2

4

5}, Na-Yeon Jung⁶, Jae-Hyeok Lee^{6

7}, Myung Jun Lee⁸, Heeyoung Kang⁹, Joon-Kyung Seong^{3

10}, Eun-Joo Kim⁸

Affiliations

¹ Department of Neurology, Gyeongsang National University School of Medicine and Gyeongsang National University Changwon Hospital, Changwon, South Korea.
² Department of Neurology, Samsung Medical Centre, Sungkyunkwan University School of Medicine, Seoul, South Korea.
³ Department of Artificial Intelligence, Korea University, Seoul, South Korea.
⁴ Alzheimer Disease Convergence Research Centre, Samsung Medical Centre, Seoul, South Korea.
⁵ Departments of Health Sciences and Technology and, Digital Health, SAIHST, Sungkyunkwan University, Seoul, South Korea.
⁶ Department of Neurology Pusan National University Yangsan Hospital, Pusan national University School of Medicine, Yangsan, South Korea.
⁷ Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan national University School of Medicine, Yangsan, South Korea.
⁸ Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, South Korea.
⁹ Department of Neurology, Gyeongsang National University Hospital, Jinju, South Korea.
¹⁰ School of Biomedical Engineering, Korea University, Seoul, South Korea.

Abstract

Background: CSF1R-related leukoencephalopathy is a type of autosomal dominant leukodystrophy caused by mutations in the colony stimulating factor 1 receptor (CSF1R) gene. Subcortical ischemic vascular dementia (SIVaD), which is caused by cerebral small vessel disease, is similar to CSF1R-related leukoencephalopathy in that it mainly affects subcortical white matter. In this study, we compared the patterns of white matter hyperintensity (WMH) and cortical thickness in CSF1R-related leukoencephalopathy with those in SIVaD.

Methods: Fourteen patients with CSF1R-related leukoencephalopathy and 129 with SIVaD were retrospectively recruited from three tertiary medical centers. We extracted and visualized WMH data using voxel-based morphometry to compare the WMH distributions between the two groups. Cortical thickness was measured using a surface-based method. Statistical maps of differences in cortical thickness between the two groups were generated using a surface model, with age, sex, education, and intracranial volume as covariates.

Results: Predominant distribution of WMH in the CSF1R-related leukoencephalopathy group was in the bilateral frontal and parietal areas, whereas the SIVaD group showed diffuse WMH involvement in the bilateral frontal, parietal, and temporal areas. Compared with the SIVaD group, the CSF1R-related leukoencephalopathy group showed more severe corpus callosum atrophy (CCA) and widespread cortical thinning.

Conclusions: To our knowledge, this is the first study using the automated MR measurement to capture WMH, cortical thinning, and CCA with signal changes in CSF1R-related leukoencephalopathy. It provides new evidence regarding differences in the patterns of WMH distribution and cortical thinning between CSF1R-related leukoencephalopathy and SIVaD.

Copyright: © 2024 Kim et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Publication types

Comparative Study

MeSH terms

Aged
Cerebral Cortex / diagnostic imaging
Cerebral Cortex / pathology
Dementia, Vascular* / diagnostic imaging
Dementia, Vascular* / pathology
Female
Humans
Leukoencephalopathies* / diagnostic imaging
Leukoencephalopathies* / pathology
Magnetic Resonance Imaging*
Male
Middle Aged
Receptor, Macrophage Colony-Stimulating Factor
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor* / genetics
Retrospective Studies
White Matter* / diagnostic imaging
White Matter* / pathology

Substances

CSF1R protein, human
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor
Receptor, Macrophage Colony-Stimulating Factor

Grants and funding

this research was supported by the National Institute of Health research project [No. 2021-ER1004-01], and the Korea National Institute of Health (KNIH) research project [No. 2024-ER1001-00]. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.