{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T07:48:07Z","timestamp":1748850487371},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,6,18]],"date-time":"2012-06-18T00:00:00Z","timestamp":1339977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:p>Mutations in <jats:italic>C9ORF72<\/jats:italic> resulting in expanded hexanucleotide repeats were recently reported to be the underlying genetic abnormality in chromosome 9p\u2010linked frontotemporal lobar degeneration with TAR DNA\u2010binding protein of 43 kD (TDP\u201043) proteinopathy (FTLD\u2010TDP), amyotrophic lateral sclerosis (ALS), and frontotemporal lobar degeneration with motor neuron disease (FTLD\u2010MND). Several subsequent publications described the neuropathology as being similar to that of FTLD\u2010TDP and ALS without <jats:italic>C9ORF72<\/jats:italic> mutations, except that cases with mutations have p62 and ubiquitin positive, TDP\u201043 negative inclusions in cerebellum, hippocampus, neocortex, and basal ganglia. The identity of this protein is as yet unknown, and its significance is unclear. With the goal of potentially uncovering the significance of these inclusions, we compared the clinical, pathologic and genetic characteristics in cases with <jats:italic>C9ORF72<\/jats:italic> mutations to those without. We confirmed the apparent specificity of p62 positive, TDP\u201043 negative inclusions to cases with <jats:italic>C9ORF72<\/jats:italic> mutations. In hippocampus, these inclusions correlated with hippocampal atrophy. No additional correlations were uncovered. However, this is the first report to show that although most cases with <jats:italic>C9ORF72<\/jats:italic> mutations were TDP type B, some of the pathologic characteristics in these cases were more similar to TDP types A and C than to type B cases. These include greater cortical and hippocampal atrophy, greater ventricular dilatation, more neuronal loss and gliosis in temporal lobe and striatum, and TDP\u201043 positive fine neuritic profiles in the hippocampus, implying that the <jats:italic>C9ORF72<\/jats:italic> mutation modifies the pathologic phenotype of FTLD\u2010TDP type B.<\/jats:p>","DOI":"10.1111\/j.1440-1789.2012.01332.x","type":"journal-article","created":{"date-parts":[[2012,6,18]],"date-time":"2012-06-18T05:19:15Z","timestamp":1339996755000},"page":"122-133","source":"Crossref","is-referenced-by-count":43,"title":["Frontotemporal lobar degeneration with TDP\u201043 proteinopathy and chromosome 9p repeat expansion in <i>C9ORF72<\/i>: clinicopathologic correlation"],"prefix":"10.1111","volume":"33","author":[{"given":"Eileen 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A.","family":"Ganti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u2010Marsel","family":"Mesulam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,6,18]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.09.011"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.09.010"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70261-7"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-011-0907-y"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-011-0911-2"},{"key":"e_1_2_6_7_2","article-title":"An MND\/ALS phenotype associated with C9orf72 repeat expansion: abundant p62\u2010positive, TDP\u201043\u2010negative inclusions in cerebral cortex, hippocampus and cerebellum but without 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