2008年4月
TDP-43 mutation in familial amyotrophic lateral sclerosis
ANNALS OF NEUROLOGY
- 巻
- 63
- 号
- 4
- 開始ページ
- 538
- 終了ページ
- 542
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1002/ana.21392
- 出版者・発行元
- WILEY-LISS
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.
- リンク情報
- ID情報
-
- DOI : 10.1002/ana.21392
- ISSN : 0364-5134
- eISSN : 1531-8249
- Web of Science ID : WOS:000255454400018