{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T05:28:00Z","timestamp":1790918880221,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,11,18]],"date-time":"2011-11-18T00:00:00Z","timestamp":1321574400000},"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":[[2012,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Parkinson's disease (PD) is a common neurodegenerative disorder of unknown etiology. The characteristic \u03b1\u2010synuclein aggregation of PD is also a feature of Sanfilippo syndrome, a storage disorder caused by \u03b1\u2010<jats:italic>N<\/jats:italic>\u2010acetylglucosaminidase (<jats:italic>NAGLU<\/jats:italic>) gene mutations. We explored genetic links between these disorders and studied the pathology of Sanfilippo syndrome to investigate a common pathway toward \u03b1\u2010synuclein aggregation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>We typed the 2 single\u2010nucleotide polymorphisms that tag the common haplotypes of <jats:italic>NAGLU<\/jats:italic> in 926 PD patients and 2308 controls and also stained cortical tissue from 2 cases of Sanfilippo A syndrome using the anti\u2010\u03b1\u2010synuclein antibody, Per7.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Allelic analysis showed an association between rs2071046 and risk for PD (<jats:italic>P<\/jats:italic> 1.3 \u00d7 10<jats:sup>\u22123<\/jats:sup>). Intracellular \u03b1\u2010synuclein accumulation was observed in the cortical tissue of both Sanfilippo A syndrome cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>This study suggests a possible role of <jats:italic>NAGLU<\/jats:italic> in susceptibility to PD while extending evidence for \u03b1\u2010synuclein aggregation in the brain in lysosomal storage disorders. Our findings support a mechanism involving lysosomal dysfunction more generally in the pathogenesis of PD. \u00a9 2011 Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.24029","type":"journal-article","created":{"date-parts":[[2011,11,18]],"date-time":"2011-11-18T15:26:52Z","timestamp":1321630012000},"page":"312-315","source":"Crossref","is-referenced-by-count":65,"title":["Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome"],"prefix":"10.1002","volume":"27","author":[{"given":"Sophie E.","family":"Winder\u2010Rhodes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Garcia\u2010Reitb\u00f6ck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Ban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan R.","family":"Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas S.","family":"Jacques","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anu","family":"Kemppinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Foltynie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline H.","family":"Williams\u2010Gray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick F.","family":"Chinnery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gavin","family":"Hudson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Burn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesl M.","family":"Allcock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen J.","family":"Sawcer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger A.","family":"Barker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Spillantini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,11,18]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(06)70373-8"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/42166"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp012"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq469"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21192"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0901281"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-010-0102-x"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp044"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23774"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0838-5"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0325-3"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1159\/000119108"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq132"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm289"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300227200"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1004676107"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(03)00024-2"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2008.11.014"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M309127200"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.00114"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.24029","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.24029","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.24029","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:15:15Z","timestamp":1760966115000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.24029"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,18]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["10.1002\/mds.24029"],"URL":"https:\/\/doi.org\/10.1002\/mds.24029","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,18]]}}}