TDP-43 mutation in familial amyotrophic lateral sclerosis.

  title={TDP-43 mutation in familial amyotrophic lateral sclerosis.},
  author={Akio Yokoseki and Atsushi Shiga and C. Tan and Asako Tagawa and Hiroyuki Kaneko and Akihide Koyama and Hiroto Eguchi and Akira Tsujino and Takeshi Ikeuchi and Akiyoshi Kakita and Koichi Okamoto and Masatoyo Nishizawa and Hitoshi Takahashi and Osamu Onodera},
  journal={Annals of neurology},
  volume={63 4},
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… CONTINUE READING
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