Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/110854
Title: TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis
Authors: Guerreiro, Rita 
Schymick, Jennifer C.
Crews, Cynthia
Singleton, Andrew 
Hardy, John 
Traynor, Bryan J. 
Issue Date: 11-Jun-2008
Publisher: Public Library of Science
Project: ALS Association, the Packard Center for ALS Research at Hopkins, the intramural programs of NIA (1 Z01 AG000951-06) and NINDS 
SFRH/BD/27442/2006 
Serial title, monograph or event: PLoS ONE
Volume: 3
Issue: 6
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 cases. Several genetic variants were identified in controls, which were considered as non-pathogenic changes. Furthermore, pathogenic structural variants were not observed in the cases and there was no genetic or haplotype association with disease status across the TARDBP locus. Conclusions: Our data indicate that genetic variation in TARDBP is not a common cause of sporadic ALS in North American.
URI: https://hdl.handle.net/10316/110854
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0002450
Rights: openAccess
Appears in Collections:I&D CNC - Artigos em Revistas Internacionais

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