基于TTR基因突变的第一线查进行的神经病变的病因诊断
Armelle Magot1, Maud Lepetit2, Steeve Genestet3
1Centre de Référence des Maladies Neuromusculaires AOC, CHU de Nantes, Filnemus, Euro-NMD, Nantes, France.
Journal of the peripheral nervous system : JPNS
|June 30, 2025
概括
在1%的患有无法解释的神经病变的患者中,发现了遗传性跨氨基粉症 (ATTRv) 突变. 早期查对于及时管理这种情况至关重要.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 罕见疾病 罕见疾病
背景情况:
- 遗传性转基因氨基粉症 (ATTRv) 源于TTR基因突变,导致多系统的氨基粉体沉积.
- 误诊是常见的,导致ATTRv的治疗延迟.
- 这项研究调查了在初始评估期间无法解释的神经病变的患者中TTR突变的患病率.
研究的目的:
- 为了确定TTR突变在患有未知原因的神经病变的患者中的患病率.
- 强调早期发现和查遗传性粉样蛋白 transthyretin amyloidosis的重要性.
主要方法:
- 法国西部的一项前性研究包括400名18-90岁的神经病变患者.
- 排除标准包括已知原因或先前的TTR突变查.
- 基因分析使用桑格测序;收集了临床,生化和电生理学数据.
主要成果:
- 四名患者 (1%) 患有异性TTR突变,平均年龄为75岁,神经病变已持续2.5年.
- 呈现的症状各异 (感官,运动,混合,小纤维),在电肌学上有感官运动神经病变.
- 没有患者患有心脏或功能障碍;神经病变概况包括轴突和脱髓化类型.
结论:
- 鉴定出TTR突变的发病率为1%,受选择性纳入标准的影响.
- 这些发现强调了对无法解释的神经病变的早期检测的必要性,因为经典的红旗症状往往不存在.
- 及时查有助于早期管理,并减少遗传性粉样蛋白 transthyretin 粉样蛋白症的长期并发症.
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