{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:03:57Z","timestamp":1790964237563,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"3-4","license":[{"start":{"date-parts":[[2018,7,16]],"date-time":"2018-07-16T00:00:00Z","timestamp":1531699200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100009056","name":"Canadian Glycomics Network","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009056","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000864","name":"Michael J. Fox Foundation for Parkinson's Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000864","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:p>\n                    Biallelic\n                    <jats:italic>GBA<\/jats:italic>\n                    mutations cause Gaucher disease (GD), and heterozygous carriers are at risk for synucleinopathies. No founder\n                    <jats:italic>GBA<\/jats:italic>\n                    mutations in French\u2010Canadians are known.\n                    <jats:italic>GBA<\/jats:italic>\n                    was fully sequenced using targeted next generation and Sanger sequencing in French\u2010Canadian Parkinson disease (PD) patients (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009436), rapid eye movement (REM)\u2010sleep behavior disorder (RBD) patients (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009189) and controls (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009891). Haplotype, identity\u2010by\u2010descent (IBD) and principal component analyses (PCA) were performed using single nucleotide polymorphism\u2010chip data. Data on GD patients from Toronto and Montreal were collected from patients' files. A\n                    <jats:italic>GBA<\/jats:italic>\n                    p.Trp378Gly mutation was identified in two RBD and four PD patients (1% of all patients combined), and not in controls. The two RBD patients had converted to DLB within 3\u2009years of their diagnosis. Haplotype, IBD and PCA analysis demonstrated that this mutation is from a single founder. Out of 167 GD patients screened, 15 (9.0%) carried the p.Trp378Gly mutation, all in trans with p.Asn370Ser. Three (20%) of the GD patients with the p.Trp378Gly mutation had developed Parkinsonism, and 11 patients had family history of PD. The p.Trp378Gly mutation is the first French\u2010Canadian founder\n                    <jats:italic>GBA<\/jats:italic>\n                    mutation to be described, which leads to synucleinopathies and to GD type 1 when in compound heterozygosity with p.Asn370Ser.\n                  <\/jats:p>","DOI":"10.1111\/cge.13405","type":"journal-article","created":{"date-parts":[[2018,6,19]],"date-time":"2018-06-19T13:01:17Z","timestamp":1529413277000},"page":"339-345","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["The\n                    <i>GBA<\/i>\n                    p.Trp378Gly mutation is a probable French\u2010Canadian founder mutation causing Gaucher disease and synucleinopathies"],"prefix":"10.1111","volume":"94","author":[{"given":"J.A.","family":"Ruskey","sequence":"first","affiliation":[{"name":"Montreal Neurological Institute McGill University  Montr\u00e9al Quebec Canada"},{"name":"Department of Neurology and Neurosurgery McGill University  Montr\u00e9al Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Biostatistics and Occupational Health McGill University  Montr\u00e9al Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Santiago","sequence":"additional","affiliation":[{"name":"Department of Hematology Jewish General Hospital, McGill University  Montr\u00e9al Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.\u2010A.","family":"Franche","sequence":"additional","affiliation":[{"name":"Axe neurosciences du CHU de Qu\u00e9bec Universit\u00e9 Laval  Qu\u00e9bec Canada"},{"name":"Faculty of Medicine, Department of Medicine Laval University  Qu\u00e9bec 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Montr\u00e9al Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010F.","family":"Trempe","sequence":"additional","affiliation":[{"name":"Department of Pharmacology &amp; Therapeutics McGill University  Montr\u00e9al Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.V.","family":"Kalia","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.B.","family":"Postuma","sequence":"additional","affiliation":[{"name":"Department of Neurology McGill University, Montreal General Hospital  Montreal Qu\u00e9bec Canada"},{"name":"Centre d'\u00c9tudes Avanc\u00e9es en M\u00e9decine du Sommeil H\u00f4pital du Sacr\u00e9\u2010C\u0153ur de Montr\u00e9al  Montr\u00e9al Qu\u00e9bec 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