由于MAPT基因变异呈现出休息和动作的前性痴呆症-帕金森症
Shakya Bhattacharjee1, Christopher Kobylecki2
1Department of Neurology, Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, Stott Lane, Salford, M6 8HD, UK.
Tremor and other hyperkinetic movements (New York, N.Y.)
|September 25, 2023
概括
前性痴呆症-帕金森症可以表现为休息,这是一个罕见的症状. 基因测试发现了一种MAPT基因变异,突出显示了它在这种神经退行性疾病中的作用.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 神经学 神经学
背景情况:
- 前性痴呆症-帕金森症 (FTDP) 是一种神经退行性疾病.
- MAPT基因突变是FTDP的已知原因之一.
- 休息震是FTDP的一个不常见的表现症状.
研究的目的:
- 报告一个FTDP病例,呈现休息震.
- 为了调查患者症状的遗传基础.
- 强调在非典型的帕金森症表现中考虑MAPT变异的重要性.
主要方法:
- 临床病例介绍和神经学检查.
- 磁共振成像 (MRI) 用于大脑缩评估.
- 对MAPT基因变异进行基因检测.
主要成果:
- 一名50岁的男性呈现出渐进的休息和动作震.
- 磁力共振扫描显示了前和部缩.
- 基因分析检测到MAPT基因中的一种致病变体 (c.915+16C>T).
结论:
- 休息,虽然很少见,不应该排除由MAPT变体引起的FTDP.
- 这种情况扩大了与MAPT相关的神经退行症的表型谱.
- 早期遗传诊断对于理解和管理这些疾病至关重要.
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