TDP‐43 mutation in familial amyotrophic lateral sclerosis
A Yokoseki, A Shiga, CF Tan, A Tagawa… - Annals of Neurology …, 2008 - Wiley Online Library
A Yokoseki, A Shiga, CF Tan, A Tagawa, H Kaneko, A Koyama, H Eguchi, A Tsujino…
Annals of Neurology: Official Journal of the American Neurological …, 2008•Wiley Online LibraryAmyotrophic 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 …
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 …
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
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