Ontology highlight
ABSTRACT:
SUBMITTER: Irwin DJ
PROVIDER: S-EPMC3543474 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Irwin David J DJ McMillan Corey T CT Brettschneider Johannes J Libon David J DJ Powers John J Rascovsky Katya K Toledo Jon B JB Boller Ashley A Bekisz Jonathan J Chandrasekaran Keerthi K Wood Elisabeth McCarty EM Shaw Leslie M LM Woo John H JH Cook Philip A PA Wolk David A DA Arnold Steven E SE Van Deerlin Vivianna M VM McCluskey Leo F LF Elman Lauren L Lee Virginia M-Y VM Trojanowski John Q JQ Grossman Murray M
Journal of neurology, neurosurgery, and psychiatry 20121031 2
<h4>Background</h4>Significant heterogeneity in clinical features of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) cases with the pathogenic C9orf72 expansion (C9P) have been described. To clarify this issue, we compared a large C9P cohort with carefully matched non-expansion (C9N) cases with a known or highly-suspected underlying TAR DNA-binding protein 43 (TDP-43) proteinopathy.<h4>Methods</h4>A retrospective case-control study was carried out using available ...[more]