{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T22:20:30Z","timestamp":1790720430848,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2006,4,21]],"date-time":"2006-04-21T00:00:00Z","timestamp":1145577600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2006,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To define the molecular etiology of early\u2010onset parkinsonism and peripheral neuropathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two sisters had early\u2010onset parkinsonism (dystonic toe curling, action tremor, masked face, bradykinesia, stooped posture, and rigidity), together with clinical and electrophysiological signs of sensorimotor axonal peripheral neuropathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No mutations were found in the genes for parkin or PINK1. Muscle biopsies showed ragged\u2010red and cytochrome <jats:italic>c<\/jats:italic> oxidase\u2013negative fibers, and biochemistry showed decreased activities of respiratory chain complexes containing mitochondrial DNA\u2013encoded subunits. Multiple mitochondrial DNA deletions were seen by long polymerase chain reaction, and sequencing of the <jats:italic>POLG<\/jats:italic> gene showed that the patients were compound heterozygous for two patogenic mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p><jats:italic>POLG<\/jats:italic> mutations can cause early\u2010onset parkinsonism in the absence of progressive external ophthalmoplegia. Ann Neurol 2006;59:859\u2013862<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.20831","type":"journal-article","created":{"date-parts":[[2006,4,21]],"date-time":"2006-04-21T17:52:41Z","timestamp":1145641961000},"page":"859-862","source":"Crossref","is-referenced-by-count":207,"title":["Early\u2010onset familial parkinsonism due to <i>POLG<\/i> mutations"],"prefix":"10.1002","volume":"59","author":[{"given":"Guido","family":"Davidzon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Greene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelangelo","family":"Mancuso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin J.","family":"Klos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Eric","family":"Ahlskog","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michio","family":"Hirano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"DiMauro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,4,21]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440715"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1986.tb01768.x"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.11.2170"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1096284"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.4.567"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20624"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2005.03.025"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2005.03.029"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16983-3"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(96)64045-2"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410220409"},{"key":"e_1_2_6_13_2","first-page":"6.4","volume-title":"Molecular cloning: a laboratory manual","author":"Sambrook J","year":"2001"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh010"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.9.1279"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2003.12.006"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi196"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8257(200007)15:4<669::AID-MDS1011>3.0.CO;2-5"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199901)45:1<130::AID-ART21>3.0.CO;2-Z"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200011)48:5<730::AID-ANA6>3.0.CO;2-0"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.11.1777"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.20831","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.20831","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T03:43:03Z","timestamp":1697514183000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.20831"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,4,21]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2006,5]]}},"alternative-id":["10.1002\/ana.20831"],"URL":"https:\/\/doi.org\/10.1002\/ana.20831","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,4,21]]}}}