MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation

• DOI: 10.2463/mrms.mp.2016-0016
• Publication Date: 2016-12-25T22:10:14Z
• Authors: Takashi Abe; Toshitaka Kawarai; Koji Fujita; Wataru Sako; Yuka Terasawa; Tsuyoshi Matsuda; Waka Sakai; Ai Tsukamoto-Miya...; Naoko Matsui; Yuishin Izumi; Ryuji Kaji; Masafumi Harada
• Keywords: Asymptomatic carrier; Diffuse panbronchiolitis

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare neurodegenerative disorder various clinical presentations. Mutation of the colony-stimulating factor 1 receptor (CSF1R) gene considered to be cause this autosomal dominant disorder. The purpose study was report magnetic resonance spectroscopy (MRS) findings in patients HDLS and asymptomatic carriers clarify use MRS disease.In retrospective, institutional review board-approved study, we included four consecutive patients, genetically diagnosed HDLS, two after acquiring informed consent. We performed single-voxel left centrum semiovale on 3-T scanner. also sex-matched normal dataset. quantified N-acetylaspartate (NAA), creatine, choline-containing compounds (Cho), glutamine, glutamate (Glu), myo-inositol (Ins), glutathione, lactate (Lac), gamma-amino butyric acid using LCModel. statistical analysis, P value <0.05 significant.In cases, revealed decreased NAA Glu concentrations, which probably reflected neuronal damage and/or loss, subsequent reduction neurotransmitters. A patient had increased Cho Ins indicating gliosis, concentration observed an carrier. This suggests that metabolic changes already occurred state.We demonstrated metabolite concentrations not only but CSF1R mutation carriers. Our indicates potentially useful tool for analysis pathophysiological even during early stages disease.