由于RFC1的双扩张,CANVAS是否可以存在纯?
Marios Hadjivassiliou1, Riccardo Currò2,3, Nick Beauchamp4
1Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Trust and University of Sheffield, Sheffield, UK m.hadjivassiliou@sheffield.ac.uk.
Journal of neurology, neurosurgery, and psychiatry
|July 6, 2023
概括
复制因子复杂子单元1 (RFC1) 扩张是大脑小性衰竭,神经病变和前置性反综合征 (CANVAS) 的常见原因. RFC1扩张不太可能发生在纯粹的动脉缩症中,但在有感官结症的动脉缩症中很常见.
科学领域:
- 神经遗传学 神经遗传学
- 神经学 神经学
- 分子生物学分子生物学
背景情况:
- 在*RFC1*基因中AAGGG重复的双扩张是大脑小动症,神经病变 (感觉性节病变,SG) 和前庭性反综合征 (CANVAS) 的主要原因.
- *RFC1*扩展的临床谱和诊断实用性需要进一步阐明,特别是在孤立的或错误诊断的情况下.
研究的目的:
- 为了确定是否存在*RFC1*扩张与纯大脑小动症.
- 调查RFC1扩展在被诊断为心动不良和感觉性节病变的患者中的作用.
主要方法:
- 建立了患者队列,包括患有异常性零星性动脉,无其他原因的感觉性节病变 (SG) 动脉,以及SG和替代诊断 (腹腔疾病,质敏感性) 的动脉.
- 已建立的分子测试方法被用于检测所有已识别的患者群体中的*RFC1*扩张.
主要成果:
- 在54名患有无SG的异形性零星性性无氧症患者中没有发现*RFC1*扩张.
- 在患有小脑缩症和SG的患者中,在71%没有发现其他原因的患者和15%患有乳病或对质敏感的患者中发现了*RFC1*扩张.
- 没有SG的孤立小脑动使RFC1*相关的CANVAS不太可能.
结论:
- *RFC1*扩张是小脑动症与感官节病变 (CANVAS) 结合的常见原因,但在孤立的小脑动症中很少见.
- 查 *RFC1* 扩张对于患有无法解释的和SG的患者至关重要,包括那些先前有替代诊断的患者.
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