面部发病的SOD1肌性侧面硬化症:一个病例报告和系统审查
Giammarco Milella1, Sebastiano Carlone2, Fedele Luisi2
1Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy; Department of Neurology and Stroke Unit "F.M. Puca", AOU Consorziale Policlinico, Bari, Italy.
概括
由于SOD1变种引起的面部发病的骨髓缩小性侧面硬化症 (ALS) 呈现出独特的快速面部软弱和扩散. 这种罕见的SOD1-ALS表型的预后比预期更差,需要早期诊断和遗传测试.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 面部发病的虚弱是SOD1相关的肌缩侧面硬化症 (ALS) 的罕见表现.
- 这种ALS亚型的自然史,传播和预后尚不清楚.
研究的目的:
- 描述表型,疾病进展和面部虚弱的SOD1-ALS的结果.
- 确定早期诊断和潜在的向治疗的关键特征.
主要方法:
- 在遵循PRISMA指南的情况下,对MEDLINE,Scopus和Web of Science进行了系统审查.
- 从遗传确认的SOD1-ALS患者的病例级数据中提取和合成了面部发病的弱点.
- 还报告了一例SOD1 A5T变种出现面部的病例.
主要成果:
- 确定了11名患有SOD1-ALS和面部发病软弱的患者,主要是男性,发病的平均年龄为52.3岁.
- 发现了7种SOD1变体,其中许多与短生存相关 (例如A5V,C7G,A5T).
- 疾病的进展呈现出一种刻板印象的模式:面部软弱扩散到对侧面,然后是腹膜区域,最后是上肢,早期主要是较低的运动神经元迹象. 平均存活时间为16个月,比他们的基因型预期的要短.
结论:
- 面部发病的SOD1-ALS是一种独特的表型,其特点是早期的LMN占主导地位的面部,快速传播和积极的临床过程.
- 快速识别和基因检测对于不对免疫疗法反应的渐进性面部至关重要,以促进获得基因向疗法的机会.
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