肌萎缩侧索硬化
额颞叶变性
发病机制
突变
医学
C9orf72
失智症
退行性疾病
退行性疾病
疾病
神经科学
遗传学
生物
病理
基因
痴呆
作者
Akio Yokoseki,Atsushi Shiga,Chun‐Feng Tan,Asako Tagawa,Hiroyuki Kaneko,Akihide Koyama,Hiroto Eguchi,Akira Tsujino,Takeshi Ikeuchi,Akiyoshi Kakita,Koichi Okamoto,Masatoyo Nishizawa,Hitoshi Takahashi,Osamu Onodera
摘要
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Accumulating evidence has shown that 43kDa TAR-DNA-binding protein (TDP-43) is the disease protein in ALS and frontotemporal lobar degeneration. We previously reported a familial ALS with Bumina bodies and TDP-43-positive skein-like inclusions in the lower motor neurons; these findings are indistinguishable from those of sporadic ALS. In three affected individuals in two generations of one family, we found a single base-pair change from A to G at position 1028 in TDP-43, which resulted in a Gln-to-Arg substitution at position 343. Our findings provide a new insight into the molecular pathogenesis of ALS.
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