Cargando…

Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer’s disease

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Davidson, Yvonne S, Robinson, Andrew C, Snowden, Julie S, Mann, David MA
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893394/
https://www.ncbi.nlm.nih.gov/pubmed/24252571
http://dx.doi.org/10.1186/2051-5960-1-50
_version_ 1782299678099898368
author Davidson, Yvonne S
Robinson, Andrew C
Snowden, Julie S
Mann, David MA
author_facet Davidson, Yvonne S
Robinson, Andrew C
Snowden, Julie S
Mann, David MA
author_sort Davidson, Yvonne S
collection PubMed
description 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. CONCLUSION: 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.
format Online
Article
Text
id pubmed-3893394
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-38933942014-01-17 Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer’s disease Davidson, Yvonne S Robinson, Andrew C Snowden, Julie S Mann, David MA Acta Neuropathol Commun Research 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. CONCLUSION: 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. BioMed Central 2013-08-12 /pmc/articles/PMC3893394/ /pubmed/24252571 http://dx.doi.org/10.1186/2051-5960-1-50 Text en Copyright © 2013 Davidson et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Davidson, Yvonne S
Robinson, Andrew C
Snowden, Julie S
Mann, David MA
Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer’s disease
title Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer’s disease
title_full Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer’s disease
title_fullStr Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer’s disease
title_full_unstemmed Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer’s disease
title_short Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer’s disease
title_sort pathological assessments for the presence of hexanucleotide repeat expansions in c9orf72 in alzheimer’s disease
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893394/
https://www.ncbi.nlm.nih.gov/pubmed/24252571
http://dx.doi.org/10.1186/2051-5960-1-50
work_keys_str_mv AT davidsonyvonnes pathologicalassessmentsforthepresenceofhexanucleotiderepeatexpansionsinc9orf72inalzheimersdisease
AT robinsonandrewc pathologicalassessmentsforthepresenceofhexanucleotiderepeatexpansionsinc9orf72inalzheimersdisease
AT snowdenjulies pathologicalassessmentsforthepresenceofhexanucleotiderepeatexpansionsinc9orf72inalzheimersdisease
AT manndavidma pathologicalassessmentsforthepresenceofhexanucleotiderepeatexpansionsinc9orf72inalzheimersdisease