{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:03:33Z","timestamp":1747184613393,"version":"3.40.5"},"reference-count":48,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The <jats:italic>C9orf72<\/jats:italic> hexanucleotide expansion mutation is the most common cause of genetic frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and combined FTD\u2010ALS. Its underlying neuropathology combines TDP\u201043 pathology and dipeptide repeat protein (DPR) deposits and may also associate with other neurodegeneration\u2010associated protein aggregates. Herein we present a unique combination of <jats:italic>C9orf72<\/jats:italic> mutation with sporadic Creutzfeldt\u2212Jakob disease (CJD) in a 74\u2010year\u2010old patient with rapidly progressive dementia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Detailed neuropathological examination including immunohistochemistry for several proteinopathies. Genetic analysis was conducted by repeat primed polymerase chain reaction (PCR). Furthermore, we analyzed additional <jats:italic>C9orf72<\/jats:italic> mutation carriers for prion\u2212protein (PrP) deposits in brain tissue and screened the cerebellar cortex of other CJD cases for p62\/DPR neuronal inclusions to assess the frequency of combined pathologies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Postmortem brain examination of a patient with a rapidly progressive neurological deterioration of 8\u00a0months\u2019 duration confirmed the diagnosis of CJD. She harbored valine homozygosity at <jats:italic>PRNP<\/jats:italic> codon 129. In addition, a frontotemporal lobar degeneration (FTLD)\u2010pattern with TDP\u201043 protein aggregates and p62+\/C9RANT+ positive inclusions along with a high degree of Alzheimer\u2010related pathology (A3B3C3) were identified. The suspected <jats:italic>C9orf72<\/jats:italic> expansion mutation was confirmed by repeat\u2010primed PCR. Screening of 13 <jats:italic>C9orf72<\/jats:italic> cases showed no pathological PrP aggregates and screening of 100 CJD cases revealed no other <jats:italic>C9orf72<\/jats:italic> expansion mutation carriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A combination of a <jats:italic>C9orf72<\/jats:italic> expansion mutation\u2010related FTLD with sporadic CJD in the same patient is rare. While the rarity of both diseases makes this concurrence most likely to be coincidental, questions regarding a potential link between these two neurodegenerative pathologies deserve further studies.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14621","type":"journal-article","created":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T03:28:03Z","timestamp":1604201283000},"page":"1009-1015","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Co\u2010incidental <i>C9orf72<\/i> expansion mutation\u2010related frontotemporal lobar degeneration pathology and sporadic Creutzfeldt\u2212Jakob disease"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3096-2852","authenticated-orcid":false,"given":"Sigrid","family":"Klotz","sequence":"first","affiliation":[{"name":"Division of Neuropathology and Neurochemistry Department of Neurology Medical University of Vienna Vienna 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