TDP-43 mutation in familial amyotrophic lateral sclerosis

被引：305

作者：

Yokoseki, Akio ^{[1
]}

Shiga, Atsushi ^{[1
,2
]}

Tan, Chun-Feng ^{[3
]}

Tagawa, Asako ^{[1
]}

Kaneko, Hiroyuki ^{[1
,2
]}

Koyama, Akihide ^{[1
,2
]}

Eguchi, Hiroto ^{[4
]}

Tsujino, Akira ^{[4
]}

Ikeuchi, Takeshi ^{[2
]}

Kakita, Akiyoshi ^{[3
]}

Okamoto, Koichi ^{[5
]}

Nishizava, Masatoyo ^{[1
]}

Takahashi, Hitoshi ^{[3
]}

Onodera, Osamu ^{[2
]}

机构：

[1] Niigata Univ, Brain Res Inst, Chuo Ku, Dept Neurol, Niigata 95185858, Japan

[2] Niigata Univ, Brain Res Inst, Dept Mol Neurosci, Niigata 95185858, Japan

[3] Niigata Univ, Brain Res Inst, Dept Pathol, Niigata 95185858, Japan

[4] Nagasaki Univ, Dept Internal Med 1, Grad Sch Biomed Sci, Nagasaki 852, Japan

[5] Gunma Univ, Grad Sch Med, Dept Neurol, Maebashi, Gunma 371, Japan

来源：

ANNALS OF NEUROLOGY | 2008年 / 63卷 / 04期

关键词：

D O I：

10.1002/ana.21392

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

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.

引用

页码：538 / 542

页数：5

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