TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.

ABSTRACT:

Background

TAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations in TARDBP have been linked to familial and sporadic ALS.

Methodology/principal findings

To further examine the frequency of mutations in TARDBP in sporadic ALS, 279 ALS cases and 806 neurologically normal control individuals of European descent were screened for sequence variants, copy number variants, genetic and haplotype association with disease. An additional 173 African samples from the Human Gene Diversity Panel were sequenced as this population had the highest likelihood of finding changes. No mutations were found in the ALS ca

SUBMITTER: Guerreiro RJ 

PROVIDER: S-EPMC2408729 | biostudies-literature | 2008 Jun

REPOSITORIES: biostudies-literature