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ID 116229
Title Alternative
MRS of HDLS and CSF1R Mutation Carrier
Author
Terasawa, Yuka Jikei University School of Medicine KAKEN Search Researchers
Matsuda, Tsuyoshi GE Healthcare Japan Corporation
Sakai, Waka Tokushima University
Keywords
magnetic resonance imaging
hereditary diffuse leukoencephalopathy with spheroids
colony stimulating factor-1 receptor
Mescher–Garwood point-resolved spectroscopy
Content Type
Journal Article
Description
Purpose: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare neurodegenerative disorder with various clinical presentations. Mutation of the colony-stimulating factor 1 receptor (CSF1R) gene is considered to be a cause of this autosomal dominant disorder. The purpose of this study was to report magnetic resonance spectroscopy (MRS) findings in patients with HDLS and asymptomatic carriers and to clarify the use of MRS in this disease.
Materials and Methods: In this retrospective, institutional review board-approved study, we included four consecutive patients, genetically diagnosed with HDLS, and two asymptomatic carriers after acquiring informed consent. We performed single-voxel MRS of the left centrum semiovale on a 3T clinical scanner. We also included a sex-matched normal dataset. We quantified N-acetylaspartate (NAA), creatine, choline-containing compounds (Cho), glutamine, glutamate (Glu), myo-inositol (Ins), glutathione, lactate (Lac), and gamma-amino butyric acid using LCModel. We performed statistical analysis, and P value <0.05 was considered significant.
Results: In HDLS cases, MRS revealed decreased NAA and Glu concentrations, which probably reflected neuronal damage and/or loss, and a subsequent reduction of neurotransmitters. A patient with HDLS also had increased Cho and Ins concentrations, indicating gliosis, and increased Cho concentration was also observed in an asymptomatic carrier. This suggests that metabolic changes had already occurred in an asymptomatic state.
Conclusion: We demonstrated changes in metabolite concentrations not only in patients with HDLS but also in asymptomatic CSF1R mutation carriers. Our study indicates that MRS is a potentially useful tool for the analysis of metabolic and pathophysiological findings of HDLS, even during the early stages of disease.
Journal Title
Magnetic Resonance in Medical Sciences
ISSN
18802206
13473182
NCID
AA11648770
Publisher
Japanese Society for Magnetic Resonance in Medicine
Volume
16
Issue
4
Start Page
297
End Page
303
Published Date
2016-12-26
Rights
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives International License(https://creativecommons.org/licenses/by-nc-nd/4.0/).
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language
eng
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departments
Medical Sciences
University Hospital