{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:14:35Z","timestamp":1790014475225,"version":"4.0.1"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,9,12]],"date-time":"2012-09-12T00:00:00Z","timestamp":1347408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in \u03b2\u2010glucosidase (<jats:italic>GBA1<\/jats:italic>) are the most common genetic risk factor for Parkinson disease (PD). There is evidence to suggest that PD risk is greater (1) in <jats:italic>GBA1<\/jats:italic> heterozygotes with non\u2010N370S <jats:italic>GBA1<\/jats:italic> mutations compared to N370S mutations and (2) in GD type 1 (GD1) patients compared to <jats:italic>GBA1<\/jats:italic> heterozygotes. This study aimed to determine the comparative risk of parkinsonism in individuals who are affected or carriers of Gaucher disease (GD) and to ascertain the influence of different <jats:italic>GBA1<\/jats:italic> mutations on risk\/clinical expression. We conducted a secondary analysis of cross\u2010sectional data assessing the prevalence of parkinsonism in a population of GD1 patients and their heterozygote and non\u2010carrier family members. Two logistic regression models, both employing a family\u2010specific random effect, were used to assess (1) the association between <jats:italic>GBA1<\/jats:italic> mutation (N370S or non\u2010N370S) and parkinsonism among <jats:italic>GBA1<\/jats:italic> heterozygotes and (2) the association between <jats:italic>GBA1<\/jats:italic> genotype and parkinsonism. Parkinsonism was present in 8.6 % of GD1 (7\/81), 8.7 % of <jats:italic>GBA1<\/jats:italic> heterozygotes (18\/207), and 2.2 % of non\u2010carriers (1\/45). For those greater than 60 years old, parkinsonism was present in 38.5 % (5\/13) of GD1 (5\/13), 15.3 % of <jats:italic>GBA1<\/jats:italic> heterozygotes (13\/85), and 7.1 % of non\u2010carriers (1\/14). Among <jats:italic>GBA1<\/jats:italic> heterozygotes, non\u2010N370S mutations were associated with a significantly increased risk of parkinsonism compared to N370S (OR\u2009=\u200922.5; <jats:italic>p<\/jats:italic>\u2009=\u20090.035; 95%CI: 1.24, 411). In this population, each additional <jats:italic>GBA1<\/jats:italic> mutation was associated with a non\u2010significant two\u2010fold increased risk of parkinsonism. <jats:italic>GBA1<\/jats:italic> heterozygotes with non\u2010N370S mutations associated with Gaucher disease have an increased risk of parkinsonism compared to those with N370S mutations.<\/jats:p>","DOI":"10.1007\/s10545-012-9527-5","type":"journal-article","created":{"date-parts":[[2012,9,12]],"date-time":"2012-09-12T01:06:55Z","timestamp":1347412015000},"page":"575-580","source":"Crossref","is-referenced-by-count":24,"title":["Greater risk of parkinsonism associated with non\u2010N370S <i>GBA1<\/i> mutations"],"prefix":"10.1002","volume":"36","author":[{"given":"M. J.","family":"Barrett","sequence":"first","affiliation":[{"name":"Department of Neurology Beth Israel Medical Center 10 Union Square East, Suite 5K New York NY 10003 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Giraldo","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Zaragoza Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria de Arag\u00f3n (IIS) Zaragoza Spain"},{"name":"Translational Research Unit Miguel Servet University Hospital Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. L.","family":"Capablo","sequence":"additional","affiliation":[{"name":"Neurology Department Miguel Servet University Hospital Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Alfonso","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Zaragoza Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria de Arag\u00f3n (IIS) Zaragoza Spain"},{"name":"Translational Research Unit Miguel Servet University Hospital Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Irun","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Zaragoza Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria de Arag\u00f3n (IIS) Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Garcia\u2010Rodriguez","sequence":"additional","affiliation":[{"name":"Translational Research Unit Miguel Servet University Hospital Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Pocovi","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Sanitaria de Arag\u00f3n (IIS) Zaragoza Spain"},{"name":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular y Celular Universidad de Zaragoza Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. M.","family":"Pastores","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neurogenetics Unit NYU Langone Medical Center New York NY 10016 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,9,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2690093"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318245f476"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000072482.70963.D7"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2005.07.005"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2007.11.016"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9055-0"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000304039.11891.29"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp161"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9298-4"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024455"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0741-7"},{"key":"e_1_2_9_13_1","volume-title":"Gu\u00eda oficial de pr\u00e1ctica cl\u00ednica en la enfermedad de Parkinson","author":"Ruiz\u2010Espiga PJ","year":"2009"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.07.002"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2009.01.029"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002548"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199907)61:3<216::AID-AJH12>3.0.CO;2-B"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.06.001"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2009.72"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/89.9.691"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi240"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2006.09.004"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0901281"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(05)70285-4"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwg068"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2011.05.003"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.03.004"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-012-9527-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:30:04Z","timestamp":1694755804000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-012-9527-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,12]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1007\/s10545-012-9527-5"],"URL":"https:\/\/doi.org\/10.1007\/s10545-012-9527-5","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,12]]}}}