Neuroimaging of CSF1R-related Disorder.
Neuroimaging of CSF1R-related Disorder.
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CSF1R 相关疾病的神经影像学。
DOI：
10.1148/radiol.232883
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发表时间：
2024
期刊：
影响因子：
19.7
通讯作者：
Wszolek,ZbigniewK
中科院分区：
文献类型：
--
作者：
Dulski,Jarosław;Middlebrooks,ErikH;Wszolek,ZbigniewK
艺术经纬：我们怀着极大的兴趣阅读了Suthar博士及其同事最近发表在2023年9月号《放射学》上的一篇文章(1)，其中报道了一名携带CSF1R杂合子基因突变的快速进展性痴呆症患者。我们祝贺作者提供了神经影像和临床表现的详细概述，这可能会指导鉴别诊断。到目前为止，已经报道了大约150个CSF1R基因的致病突变(2)。然而，基因型-表型的相关性仍然不完全清楚，各种突变表现出广泛的临床严重性。以前，CSF1R杂合突变与成人起病的轴突椭圆形和有色胶质细胞白质脑病有关，而双等位CSF1R突变与脑异常、神经变性和骨骼硬化(BANDDOS)相关。然而，最近的研究进展使轴突球体和有色性胶质细胞和BANDDOS的分类变得过时。因此，引入了早发和晚发(年龄，≥18岁)形式的CSF1R相关障碍(CSF1R-RD)的术语(2)。因此，报告的成人起病的认知功能下降、抑郁和行为症状的患者目前将被归类为晚发型CSF1R-RD。了解该患者的特定突变及其已故兄弟的神经病理结果，对进一步研究该患者的基因表型相关性具有重要意义。由于基因检测在许多患者中检测到未知临床意义的变异，传播有关新的致病CSF1R突变的信息可能会加速其他患者的诊断，防止不必要的研究，并指导适当的治疗。例如，糖皮质激素似乎可以预防CSF1R突变携带者的症状性疾病的发病，这是在回溯性观察研究和小鼠模型上证明的(3，4)。此外，关于CSF1R-RD病程和对造血干细胞移植反应的预测因素的研究正在进行中。研究表明，与运动型占优势的患者相比，非运动型占优势的患者(认知功能减退)预后更差，从造血干细胞移植中获益的可能性也更小。最后，MRI技术的进步，如7-T MRI，显示出与传统MRI相比，在显示携带CSF1R致病突变的患者中典型的“垫脚石”钙化和白质病变方面具有越来越高的敏感性(5)。因此，提高对这一发现的认识和适当的MRI方案选择在评估脑白质疾病患者时变得越来越重要。
Editor: We read with great interest a recent article by Dr Suthar and colleagues (1), published in the September 2023 issue of Radiology, which reported a patient with rapidly progressive dementia who was a carrier of heterozygous CSF1R gene mutation. We congratulate the authors on providing a detailed overview of neuroimaging and clinical findings, which may guide the differential diagnosis. To date, approximately 150 pathogenic mutations in the CSF1R gene have been reported (2). However, the genotype-phenotype correlations are still not fully understood, with various mutations manifesting with a wide range of clinical severity (2). Previously, heterozygous CSF1R mutations were linked with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, whereas biallelic CSF1R mutations were associated with brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). However, recent research developments have made obsolete the classifications for axonal spheroids and pigmented glia and BANDDOS. Therefore, the terminology of CSF1R-related disorder (CSF1R-RD) with early-and late-onset (age,≥ 18 years) forms was introduced (2). Hence, the reported patient with adult-onset cognitive decline, depression, and behavioral symptoms would be currently classified as late-onset CSF1R-RD. It would be important for further research on genotypephenotype correlations to learn the specific mutation of this patient and the neuropathologic findings of his deceased brother. Because genetic testing detects variants of unknown clinical significance in many patients, spreading information about new pathogenic CSF1R mutations may hasten diagnosis in other patients, prevent unnecessary investigations, and guide toward appropriate treatment. For instance, glucocorticoids seem to prevent the symptomatic disease onset in CSF1R mutation carriers, as demonstrated by the retrospective observational study and on mice models (3, 4). Additionally, there is ongoing research on predictors of CSF1R-RD disease course and response to hematopoietic stem cell transplantation. It was shown that patients with the nonmotor predominant phenotype (cognitive decline) have a worse prognosis and are less likely to benefit from hematopoietic stem cell transplantation than patients with the motor-predominant phenotype (2). Finally, advances in MRI technology, such as 7-T MRI, have shown increasing sensitivity to depict typical “stepping-stone” calcifications and white matter lesions in a patient who carries the CSF1R pathogenic mutation compared with traditional MRI (5). As such, increasing awareness of this finding and appropriate MRI protocol selection are increasingly important in evaluating patients with white matter disease.