title: Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer's disease.
abstract: BACKGROUND
  We have sought histological evidence, using TDP-43 and p62 immunohistochemistry, for the presence of expansions in C9ORF72 among 200 patients with pathologically confirmed AD.
  
  
  RESULTS
  We noted TDP-43 pathological changes in hippocampus and temporal cortex in 45 (22.5%) of these patients, but did not detect any cases where p62 positive changes in hippocampus and cerebellum, considered pathognomic for C9ORF72 expansions, were present.
  
  
  CONCLUSIONS
  We conclude that expansions in C9ORF72 associated with AD are a rare occurrence, and in those instances in the literature where these have been reported, the presence of AD may in fact be coincidental and unrelated to the expansion.
authors.affiliation: Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Foundation NHS Trust, Salford M6 8HD, UK. david.mann@manchester.ac.uk.
authors.forename: Yvonne S
authors.initials: YS
authors.lastname: Davidson
authors.forename: Andrew C
authors.initials: AC
authors.lastname: Robinson
authors.forename: Julie S
authors.initials: JS
authors.lastname: Snowden
authors.forename: David M A
authors.initials: DM
authors.lastname: Mann
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D000073885:C9orf72 Protein; D002525:Cerebellar Cortex / Q000378:metabolism / Q000473:pathology; D042622:DNA Repeat Expansion; D004268:DNA-Binding Proteins / Q000378:metabolism*; D006624:Hippocampus / Q000378:metabolism / Q000473:pathology; D006801:Humans; D011506:Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000378:metabolism*; D013702:Temporal Lobe / Q000378:metabolism / Q000473:pathology
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D004268:DNA-Binding Proteins; C118585:P62 protein, human; D011506:Proteins; D016601:RNA-Binding Proteins