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TDP ‐ 43 mutation in familial amyotrophic lateral sclerosis
Author(s) -
Yokoseki Akio,
Shiga Atsushi,
Tan ChunFeng,
Tagawa Asako,
Kaneko Hiroyuki,
Koyama Akihide,
Eguchi Hiroto,
Tsujino Akira,
Ikeuchi Takeshi,
Kakita Akiyoshi,
Okamoto Koichi,
Nishizawa Masatoyo,
Takahashi Hitoshi,
Onodera Osamu
Publication year - 2008
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.21392
Subject(s) - amyotrophic lateral sclerosis , frontotemporal lobar degeneration , pathogenesis , mutation , medicine , c9orf72 , frontotemporal dementia , degenerative disease , degenerative disorder , disease , neuroscience , genetics , biology , pathology , gene , dementia
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
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