面部发作的感觉和运动神经病变的突变TARDBP
Vincent Picher-Martel1, Suma Babu1, Anthony A Amato1
1From the Department of Neurology (V.P.-M.), Massachusetts General Hospital/Harvard Medical School; Department of Neurology (V.P.-M.), MassGeneral Institute for Neurodegenerative Diseases (MIND); Department of Neurology (S.B.), Massachusetts General Hospital; Department of Neurology (A.A.A.), Brigham Women's Hospital, Harvard Medical School, Boston, MA.
Neurology. Genetics
|June 6, 2024
概括
面部发作的感觉和运动神经病变 (FOSMN) 与TDP-43蛋白有关. 建议对FOSMN患者进行TARDBP突变的基因测试,以帮助诊断和理解这种罕见的神经肌肉疾病.
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:
- 面部发作的感觉和运动神经病变 (FOSMN) 是一种罕见的神经肌肉疾病.
- FOSMN与肌缩侧面硬化症和前性痴呆症 (ALS/FTD) 具有相同的临床和病理特征.
- 与ALS/FTD相比,FOSMN的遗传基础和遗传测试的实用性仍未得到充分研究.
研究的目的:
- 为了调查被诊断患有FOSMN.N.的患者的遗传特征.
- 探索交易性反应DNA结合蛋白 (TDP-43/TARDBP) 在FOSMN病原发生中的作用.
- 评估TARDBP突变在FOSMN中的相关性,与其他ALS/FTD相关基因相比.
主要方法:
- 一位66岁的妇女的临床评估,表现为面部疼痛,消化不良和脱节症.
- 诊断工作包括神经成像 (大脑和宫MRI),电生理学研究 (神经传导研究和EMG).
- 进行了ALS/FTD基因组的下一代测序 (NGS).
主要成果:
- 这位患者被诊断出患有FOSMN.
- 在该患者身上发现了一种TDP-43/TARDBP基因的新型N390D变异.
- 文献审查表明,TARDBP突变在FOSMN中比在ALS/FTD中更常见,而C9ORF72和SOD1突变在FOSMN中罕见或不存在.
结论:
- FOSMN与TDP-43.3具有强烈的病理和遗传关联.
- 对于被诊断患有FOSMN的患者,应考虑包括TARDBP在内的ALS/FTD遗传测试小组.
- 这一发现有助于理解FOSMN的遗传情景及其与TDP-43蛋白病变的关系.
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