{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:26:48Z","timestamp":1791066408871,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"15","license":[{"start":{"date-parts":[[2010,8,27]],"date-time":"2010-08-27T00:00:00Z","timestamp":1282867200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2010,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nuclear genes, in particular mitochondrial polymerase gamma (<jats:italic>POLG<\/jats:italic>) and <jats:italic>PEO1<\/jats:italic>, have been increasingly recognized to cause mitochondrial diseases. Both genes assume a complementary role as part of the mitochondrial DNA (mtDNA) replication fork and, accordingly, seem to present with largely overlapping phenotypical spectra. We assessed the frequency and phenotypic spectrum of <jats:italic>PEO1<\/jats:italic> compared to <jats:italic>POLG<\/jats:italic> mutations in a cohort of 80 patients with cerebellar ataxia for which common repeat expansion diseases had been excluded. Patients were selected to present additional features previously described for <jats:italic>PEO1<\/jats:italic> mutations, namely early age of onset, progressive external ophthalmoplegia (PEO), or epilepsy. Whereas <jats:italic>PEO1<\/jats:italic> mutations were not found in our cohort, <jats:italic>POLG<\/jats:italic> frequently caused ataxia with PEO (47%), psychiatric comorbidities (20%) and, more rarely, with epilepsy (14%). Thus, <jats:italic>PEO1<\/jats:italic> is rare in Central Europe even in those patients displaying characteristic phenotypic features. In contrast, <jats:italic>POLG<\/jats:italic> is rather common in Central European ataxia patients. It should be particularly considered in ataxia patients with PEO, psychiatric comorbidities, and\/or sensory neuropathy, even if characteristic mitochondrial extra\u2010CNS features are absent. \u00a9 2010 Movement Disorder Society.<\/jats:p>","DOI":"10.1002\/mds.23286","type":"journal-article","created":{"date-parts":[[2010,8,30]],"date-time":"2010-08-30T21:03:34Z","timestamp":1283202214000},"page":"2678-2682","source":"Crossref","is-referenced-by-count":34,"title":["<i>POLG<\/i>, but not <i>PEO1<\/i>, is a frequent cause of cerebellar ataxia in Central Europe"],"prefix":"10.1002","volume":"25","author":[{"given":"Julia","family":"Schicks","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthis","family":"Synofzik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Schulte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,8,27]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32731"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0926-3"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000149767.51152.83"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00216-X"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b78488"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi328"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp045"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000156516.77696.5A"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm242"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20498"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl088"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.44.6.503"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2007.01.044"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20824"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn007"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201831"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.067686"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23286","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23286","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.23286","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:17:05Z","timestamp":1760962625000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.23286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,27]]},"references-count":17,"journal-issue":{"issue":"15","published-print":{"date-parts":[[2010,11,15]]}},"alternative-id":["10.1002\/mds.23286"],"URL":"https:\/\/doi.org\/10.1002\/mds.23286","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,27]]}}}