{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T22:14:56Z","timestamp":1790720096889,"version":"4.1.0"},"reference-count":26,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2014,12,2]],"date-time":"2014-12-02T00:00:00Z","timestamp":1417478400000},"content-version":"unspecified","delay-in-days":1431,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2011,1]]},"abstract":"<jats:title>Abstract:<\/jats:title><jats:sec id=\"S031716710001115X_abs1\"><jats:title>Introduction:<\/jats:title><jats:p>Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial syndrome on a disease spectrum with Kearns-Sayre syndrome (KSS). Clinical presentation is variable and our experience suggested that phenotypic differences exist in CPEO with onset after age 20.<\/jats:p><\/jats:sec><jats:sec id=\"S031716710001115X_abs2\"><jats:title>Methods:<\/jats:title><jats:p>This descriptive study is a retrospective chart review of 40 patients with late-onset CPEO. Clinical features, laboratory and neurophysiology results were reviewed.<\/jats:p><\/jats:sec><jats:sec id=\"S031716710001115X_abs3\"><jats:title>Results:<\/jats:title><jats:p>Multisystem dysfunction was very common in this series. Gastrointestinal dysfunction was more common than expected (60%) as was migraine headache (40%). Clinical characteristics on the KSS disease spectrum were uncommon in this series with only 2.5% having pigmentary retinopathy, 5% with cardiac conduction abnormality, and 22.5% having endocrinopathy (most often thyroid dysfunction rather than diabetes). Neurophysiology abnormalities included length-dependent axonal polyneuropathy in 44% (sometimes subclinical) and myopathic EMG changes in 26%. Exposure to sources of acquired mitochondrial toxicity including cigarette use and hepatitis C infection were more common than expected in this series.<\/jats:p><\/jats:sec><jats:sec id=\"S031716710001115X_abs4\"><jats:title>Discussion:<\/jats:title><jats:p>Phenotype was different in this late-onset series compared with previous reports in CPEO patients. In this series of late-onset patients, multi-organ dysfunction was more common than previously reported in CPEO, and some classical mitochondrial manifestations, such as pigmentary retinopathy were rare. We suggest that acquired mitochondrial toxicity may have a role in the pathogenesis of adult-onset CPEO.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s031716710001115x","type":"journal-article","created":{"date-parts":[[2014,12,12]],"date-time":"2014-12-12T10:09:59Z","timestamp":1418378999000},"page":"119-123","source":"Crossref","is-referenced-by-count":52,"title":["Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia"],"prefix":"10.1017","volume":"38","author":[{"given":"Gerald","family":"Pfeffer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Sirrs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. Kevin","family":"Wade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle M.","family":"Mezei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2014,12,2]]},"reference":[{"key":"S031716710001115X_ref014","doi-asserted-by":"publisher","DOI":"10.1097\/01.nrl.0000252953.49721.f5"},{"key":"S031716710001115X_ref015","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2007.08.036"},{"key":"S031716710001115X_ref010","doi-asserted-by":"publisher","DOI":"10.1038\/sj.eye.6701488"},{"key":"S031716710001115X_ref013","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/98.3.473"},{"key":"S031716710001115X_ref019","doi-asserted-by":"publisher","DOI":"10.1023\/A:1014484131103"},{"key":"S031716710001115X_ref002","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8619(05)70180-8"},{"key":"S031716710001115X_ref005","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0420.1998.760103.x"},{"key":"S031716710001115X_ref001","doi-asserted-by":"publisher","DOI":"10.1080\/09273970500216432"},{"key":"S031716710001115X_ref006","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410260603"},{"key":"S031716710001115X_ref017","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20319"},{"key":"S031716710001115X_ref021","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2008.08.006"},{"key":"S031716710001115X_ref007","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(94)00080-S"},{"key":"S031716710001115X_ref016","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430212"},{"key":"S031716710001115X_ref018","first-page":"95","article-title":"MR of extraocular muscles in chronic progressive external ophthalmoplegia","volume":"19","author":"Carlow","year":"1998","journal-title":"AJNR Am J Neuroradiol"},{"key":"S031716710001115X_ref003","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181aae814"},{"key":"S031716710001115X_ref025","unstructured":"Smoking prevalence in British Columbia [homepage on the internet]. Ipsos-Reid. 2003 Sept 2 [cited 2010 Jun 17]. Available from: http:\/\/www.health.gov.bc.ca\/tobacco\/pdf\/ipsos.pdf"},{"key":"S031716710001115X_ref024","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcg.0000155517.02468.46"},{"key":"S031716710001115X_ref008","doi-asserted-by":"publisher","DOI":"10.1007\/s004150170094"},{"key":"S031716710001115X_ref020","doi-asserted-by":"publisher","DOI":"10.1086\/591202"},{"key":"S031716710001115X_ref022","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp158"},{"key":"S031716710001115X_ref012","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.10.1409"},{"key":"S031716710001115X_ref004","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.05.009"},{"key":"S031716710001115X_ref009","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-008-0289-8"},{"key":"S031716710001115X_ref011","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2005.1761f.x"},{"key":"S031716710001115X_ref023","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-05-0210"},{"key":"S031716710001115X_ref026","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.1030034"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S031716710001115X","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,27]],"date-time":"2019-04-27T16:18:47Z","timestamp":1556381927000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S031716710001115X\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,1]]}},"alternative-id":["S031716710001115X"],"URL":"https:\/\/doi.org\/10.1017\/s031716710001115x","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,1]]}}}