与p.R777Q致病变体相关的CSF1R相关疾病的临床和病理特征
Tomasz Chmiela1,2, Delaney Liskey3,4, Audrey J Strongosky1
1Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Journal of movement disorders
|November 14, 2025
概括
殖民地刺激因子-1受体 (CSF1R) 相关疾病 (CSF1R-RD) 中的p.R777Q变体呈现出一种侵略性的神经退行过程. 短期病例的神经病理发现比长期病例温和.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 病理学 病理学 病理学
背景情况:
- 殖民地刺激因子-1受体 (CSF1R) 相关疾病 (CSF1R-RD) 是一种罕见的,快速进展的神经退行性疾病.
- 已经确定了200多种CSF1R的致病变体,导致了多种不同的临床表现.
- p.R777Q变异是一种已知的有害突变,与CSF1R-RD相关.
研究的目的:
- 描述与p.R777Q变种相关的CSF1R-RD的临床和病理特征.
- 报告一个具有p.R777Q变异的新家族,并比较疾病进展和神经病理学.
- 在CSF1R-RD.中调查p.R777Q变异的攻击性.
主要方法:
- 收集了来自p.R777Q变种的新家族的临床和成像数据.
- 对索引患者进行了神经病理学检查.
- 对13名患有p.R777Q变异的个体进行了文献审查,并与长期存在的CSF1R-RD病例进行了比较.
主要成果:
- 在一个新的家族中确定了p.R777Q变种,发病时间约为41岁,平均存活时间为3.3年.
- 指标患者 (10个月的持续时间) 的神经病理学显示,围静脉白质中严重的轴突和髓病理.
- 这种病理与患有CSF1R-RD的患者相比,其疾病持续时间为11年,严重程度较小.
结论:
- 这种p.R777Q变体与CSF1R-RD的积极临床过程有关.
- 在短期指数病例中,较轻的神经病理发现表明了变异特异性或快速进展相关的差异.
- 需要进一步的研究,以了解驱动p.R777Q变异的攻击性特征的具体机制.
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