一种罕见的内部c.2654+1G>CSF1R-微脑病变:一个病例报告
HongYan Wu1, JingYu Shi2, XiaoShan Wang1
1Department of Neurology, Guizhou University of Traditional Chinese Medicine, Guiyang, China.
Frontiers in genetics
|September 2, 2025
概括
这项研究详细介绍了一种罕见的CSF1R微脑病变病例. 负扩散权重成像 (DWI) 和类似阿尔茨海默氏症的脑脊液生物标志物凸显了认知衰退病例早期遗传检测的必要性.
科学领域:
- 神经科学
- 遗传学
- 神经学
背景情况:
- CSF1R- 微质脑病是一种罕见的渐进性神经退行性疾病.
- 由于不同的临床表现和潜在的错误诊断,早期诊断往往具有挑战性.
- 在殖民地刺激因子1受体 (CSF1R) 基因突变中涉及.
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