带有脊髓损伤的跨甲基素相关的家族性氨基粉症多神经病变:一个病例报告
Hailin Liu1, Chao Huang1, Yanjiao Du1
1Department of Neurology, Luoyang Central Hospital Affiliated to Zhengzhou University, Luoyang Cerebrovascular Disease (Stroke) Clinical Medical Research Center, Regional Medical Center for Neurological Diseases of Henan Province, Luoyang, People's Republic of China.
International medical case reports journal
|January 10, 2025
概括
晶氨基粉症多神经病变 (TTR-FAP) 很少会导致脊髓损伤. 通过遗传和成像测试进行早期诊断对于罕见的TTR-FAP病例至关重要,因为尽管治疗,结果可能很差.
科学领域:
- 遗传学和分子生物学
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 与氨酸蛋白相关的家族性粉样粉症多神经病变 (TTR-FAP) 是一种自体主导遗传性疾病.
- 在TTR基因的突变导致TTR-FAP,导致神经损伤和潜在的器官参与.
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