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Ann Neurol. 2008 Apr;63(4):538-42. doi: 10.1002/ana.21392.

TDP-43 mutation in familial amyotrophic lateral sclerosis.

Author information

1
Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.

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.

PMID:
18438952
DOI:
10.1002/ana.21392
[Indexed for MEDLINE]

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