Qi-Jie Zhang, Jie Lin, You-Liang Wang, Long Chen, Ying Ding, Fu-Ze Zheng, Huan-Huan Song, Ao-Wei Lv, Yu-Ying Li, Qi-Fu Guo, Min-Ting Lin, Wei Hu, Liu-Qing Xu, Wen-Long Zhao, Ling Fang, Meng-Chao Cui, Zhi-Fei Fu, Wan-Jin Chen, Jing Zhang, Zhi-Qiang Wang, Ning Wang, Ying Fu
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease, pathologically characterized by TDP-43 aggregates. Recent evidence has been indicated that phosphorylated TDP-43 (pTDP-43) is present not only in motor neurons but also in muscle tissues. However, it is unclear whether testing pTDP-43 aggregation in muscle tissue would assist in the diagnosis of ALS. We propose three key questions: (i) Is aggregation of pTDP-43 detectable in routine biopsied muscles? (ii) Can detection of pTDP-43 aggregation discriminate between ALS and non-ALS patients? (iii) Can pTDP-43 aggregation be observed in the early stages of ALS? We conducted a diagnostic study comprising 2 groups: an ALS group in which 18 cases underwent muscle biopsy screened from a registered ALS cohort consisting of 802 patients and a non-ALS control group, in which we randomly selected 54 muscle samples from a biospecimen bank of 684 patients...
April 11, 2024: Brain Pathology