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- Title
TDP- 43 mutation in familial amyotrophic lateral sclerosis.
- Authors
Yokoseki, Akio; Shiga, Atsushi; Tan, Chun-Feng; Tagawa, Asako; Kaneko, Hiroyuki; Koyama, Akihide; Eguchi, Hiroto; Tsujino, Akira; Ikeuchi, Takeshi; Kakita, Akiyoshi; Okamoto, Koichi; Nishizawa, Masatoyo; Takahashi, Hitoshi; Onodera, Osamu
- Abstract
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. Ann Neurol 2008;63:538-542
- Publication
Annals of Neurology, 2008, Vol 63, Issue 4, p538
- ISSN
0364-5134
- Publication type
Article
- DOI
10.1002/ana.21392