{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:02:55Z","timestamp":1790708575604,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,12,5]],"date-time":"2012-12-05T00:00:00Z","timestamp":1354665600000},"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":[[2013,2]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Heterozygous loss\u2010of\u2010function mutations in the acid beta\u2010glucocerebrosidase (\n                      <jats:italic>GBA1<\/jats:italic>\n                      ) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD). Our aim was to assess the contribution of\n                      <jats:italic>GBA1<\/jats:italic>\n                      mutations in a series of early\u2010onset PD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      One hundred and eighty\u2010five PD patients (with an onset age of \u226450) and 283 age\u2010matched controls were screened for\n                      <jats:italic>GBA1<\/jats:italic>\n                      mutations by Sanger sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We show that the frequency of\n                      <jats:italic>GBA1<\/jats:italic>\n                      mutations is much higher in this patient series than in typical late\u2010onset patient cohorts. Furthermore, our results reveal that the most prevalent PD\u2010associated\n                      <jats:italic>GBA1<\/jats:italic>\n                      mutation is E326K, a variant that does not, when homozygous, cause GD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease. \u00a9 2012\n                      <jats:italic>Movement<\/jats:italic>\n                      Disorder Society\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.25248","type":"journal-article","created":{"date-parts":[[2012,12,5]],"date-time":"2012-12-05T17:25:15Z","timestamp":1354728315000},"page":"232-236","source":"Crossref","is-referenced-by-count":149,"title":["The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease"],"prefix":"10.1002","volume":"28","author":[{"given":"Raquel","family":"Duran","sequence":"first","affiliation":[{"name":"Reta Lila Weston Laboratories and Departments of Molecular Neuroscience UCL Institute of Neurology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niccolo E.","family":"Mencacci","sequence":"additional","affiliation":[{"name":"Reta Lila Weston Laboratories and Departments of Molecular Neuroscience UCL Institute of Neurology London UK"},{"name":"Department of Neurology and Laboratory of Neuroscience \u201cDino Ferrari\u201d Center Universit\u00e0 degli Studi di Milano IRCCS Istituto Auxologico Italiano Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aikaterini V.","family":"Angeli","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Shoai","sequence":"additional","affiliation":[{"name":"Reta Lila Weston Laboratories and Departments of Molecular Neuroscience UCL Institute of Neurology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Deas","sequence":"additional","affiliation":[{"name":"Reta Lila Weston Laboratories and Departments of Molecular Neuroscience UCL Institute of Neurology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Reta Lila Weston Laboratories and Departments of Molecular Neuroscience UCL Institute of Neurology 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UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony H.","family":"Schapira","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences Institute of Neurology UCL Medical School Royal Free Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Lees","sequence":"additional","affiliation":[{"name":"Reta Lila Weston Laboratories and Departments of Molecular Neuroscience UCL Institute of Neurology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Limousin","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul R.","family":"Jarman","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London 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