{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T06:00:53Z","timestamp":1780639253159,"version":"3.54.1"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T00:00:00Z","timestamp":1622764800000},"content-version":"vor","delay-in-days":154,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["alz-journals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Alz &amp; Dem Diag Ass &amp; Dis Mo"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction: The<\/jats:title>\n                    <jats:p>\n                      <jats:italic>GBA<\/jats:italic>\n                      \u2010N370S mutation is one of the most frequent risk factors for dementia with Lewy bodies (DLB) and Parkinson's disease (PD). We looked for genetic variations that contribute to the outcome in N370S\u2010carriers, whether PD or DLB.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole\u2010genome sequencing of 95 Ashkenazi\u2010N370S\u2010carriers affected with either DLB (n\u00a0=\u00a019) or PD (n\u00a0=\u00a076) was performed, and 564 genes related to dementia and PD analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified enrichment of linked alleles in\n                      <jats:italic>PINK1<\/jats:italic>\n                      locus in DLB patients (false discovery rate\n                      <jats:italic>P\u00a0<\/jats:italic>\n                      =\u00a0.0412). Haplotype analysis delineated 1.8 Mb interval encompassing 29 genes and 87 unique variants, of them,\n                      <jats:italic>KIF17<\/jats:italic>\n                      \u2010R869C received the highest functional prediction score (Combined Annotation Dependent Depletion =\u00a034). Its frequency was significantly higher in 26 DLB\u2010N370S\u2010carriers compared to 140 PD\u2010N370S\u2010carriers (odds ratio [OR]\u00a0=\u00a033.4\n                      <jats:italic>P\u00a0<\/jats:italic>\n                      =\u00a0.001, and OR\u00a0=\u00a070.2 when only heterozygotes were included).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>\n                      Because\n                      <jats:italic>KIF17<\/jats:italic>\n                      was shown to be important for learning and memory in mice, our data further suggest, for the first time, its involvement in DLB, and possibly in human dementia.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/dad2.12143","type":"journal-article","created":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T11:34:33Z","timestamp":1622806473000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["R869C mutation in molecular motor\n                    <i>KIF17<\/i>\n                    gene is involved in dementia with Lewy bodies"],"prefix":"10.1002","volume":"13","author":[{"given":"Orly","family":"Goldstein","sequence":"first","affiliation":[{"name":"The Genomic Research Laboratory for Neurodegeneration, Neurological Institute Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mali","family":"Gana\u2010Weisz","sequence":"additional","affiliation":[{"name":"The Genomic Research Laboratory for Neurodegeneration, Neurological Institute Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Shiner","sequence":"additional","affiliation":[{"name":"Cognitive Neurology Unit, Neurological Institute Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Movement Disorders Unit, Neurological Institute Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Sackler Faculty of Medicine, and Sagol School of Neuroscience Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reut","family":"Attar","sequence":"additional","affiliation":[{"name":"The Genomic Research Laboratory for Neurodegeneration, Neurological Institute Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yael","family":"Mordechai","sequence":"additional","affiliation":[{"name":"The Genomic Research Laboratory for Neurodegeneration, Neurological Institute Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yedael Y.","family":"Waldman","sequence":"additional","affiliation":[{"name":"NRGene Ltd.  Ness\u2010Ziona Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anat","family":"Bar\u2010Shira","sequence":"additional","affiliation":[{"name":"The Genomic Research Laboratory for Neurodegeneration, Neurological Institute Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avner","family":"Thaler","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Neurological Institute Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Sackler Faculty of Medicine, and Sagol School of Neuroscience Tel Aviv University  Tel Aviv Israel"},{"name":"Laboratory for Early Markers of Neurodegeneration, Neurological Institute Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Gurevich","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Neurological Institute Tel Aviv Sourasky Medical Center  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