语义性痴呆症患者的VCP突变:一个病例报告
Ryota Kobayashi1, Hiroya Naruse2, Akihito Suzuki1
1Department of Psychiatry, Yamagata University School of Medicine, Yamagata, Japan.
Neurocase
|July 23, 2025
概括
含有瓦洛辛蛋白 (VCP) 的基因变异可能导致前叶退化 (FTLD). 这项研究确定了一种新的VCP变体,p.Arg191Gln,与语义性痴呆症 (SD) 相关,扩大了已知的FTLD谱.
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:
- 含有瓦洛辛蛋白 (VCP) 的基因变异与包容体肌肉病,帕杰特骨疾病和前性痴呆症 (FTD) 有关.
- 致病性VCP变异通常表现为行为变异FTD (bvFTD) 或罕见的语义痴呆症 (SD).
- VCP p.Arg155Cys 变异是迄今为止唯一与SD相关的VCP突变.
研究的目的:
- 报告一种由致病性VCP变体引起的语义性痴呆症 (SD) 的新病例.
- 调查与VCP相关的前叶退化 (FTLD) 的表型谱.
主要方法:
- 一个被诊断患有SD的日本女性患者的案例报告.
- 基因分析包括全外体和桑格测序,以识别VCP变异.
- 对神经和全身症状进行临床评估.
主要成果:
- 一名女性患者在56岁时出现了SD,其特点是语言和行为变化.
- 基因分析揭示了患者的新型致病性VCP变异p.Arg191Gln.
- 患者表现出孤立的SD,没有肌肉病,金字塔体征或骨病,进展到严重残疾和死亡.
结论:
- 这种VCP p.Arg191Gln变种可以导致孤立的语义痴呆症 (SD).
- 这种病例扩大了与致病性VCP变体相关的前叶退化 (FTLD) 现型的已知谱.
- 与VCP相关的疾病包括比以前认可的更广泛的FTLD呈现范围.
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