帕金森氏症-ALS与一个新的MAPT变体
Camilla Ferrari1, Assunta Ingannato2, Sabrina Matà3
1Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50134, Florence, Italy. camilla.ferrari@unifi.it.
概括
在MAPT基因的突变导致神经退行性疾病,如前性痴呆和帕金森症. 在患有帕金森病和肌缩性侧面硬化症的患者中发现了一种新的MAPT变异,支持多种疾病中的陶氏功能障碍.
科学领域:
- 神经遗传学 神经遗传学
- 分子神经学分子神经学
- 临床神经科学 临床神经科学
背景情况:
- 微管相关蛋白 (MAPT) 基因的突变与前性痴呆症 (FTD),帕金森症 (例如,渐进性上核性麻,皮质细胞退化) 和肌缩侧面硬化症 (ALS) 有关.
- MAPT基因突变导致陶蛋白功能障碍和神经纤维状结积累.
- 和α-synuclein聚合物的同时出现经常在帕金森症和帕金森病 (PD) 中观察到,这表明神经退行症中的蛋白质相互作用.
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