{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:03:31Z","timestamp":1790553811925,"version":"4.1.0"},"reference-count":51,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2009,5,7]],"date-time":"2009-05-07T00:00:00Z","timestamp":1241654400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Intramural Research Program"},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2009,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A body of work has emerged over the past decade demonstrating a relationship between mutations in glucocerebrosidase gene (<jats:italic>GBA<\/jats:italic>), the gene implicated in Gaucher disease (GD), and the development of parkinsonism. Several different lines of research support this relationship. First, patients with GD who are homozygous for mutations in <jats:italic>GBA<\/jats:italic> have a higher than expected propensity to develop Parkinson's disease (PD). Furthermore, carriers of <jats:italic>GBA<\/jats:italic> mutations, particularly family members of patients with GD, have displayed an increased rate of parkinsonism. Subsequently, investigators from centers around the world screened cohorts of patients with parkinsonism for <jats:italic>GBA<\/jats:italic> mutations and found that overall, subjects with PD, as well as other Lewy body disorders, have at least a fivefold increase in the number of carriers of <jats:italic>GBA<\/jats:italic> mutations as compared to age\u2010matched controls. In addition, neuropathologic studies of subjects with parkinsonism carrying <jats:italic>GBA<\/jats:italic> mutations demonstrate Lewy bodies, depletion of neurons of the substantia nigra, and involvement of hippocampal layers CA2\u20134. Although the basis for this association has yet to be elucidated, evidence continues to support the role of <jats:italic>GBA<\/jats:italic> as a PD risk factor across different centers, synucleinopathies, and ethnicities. Further studies of the association between GD and parkinsonism will stimulate new insights into the pathophysiology of the two disorders and will prove crucial for both genetic counseling of patients and family members and the design of relevant therapeutic strategies for specific patients with parkinsonism. \u00a9 2009 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.22538","type":"journal-article","created":{"date-parts":[[2009,5,7]],"date-time":"2009-05-07T15:38:59Z","timestamp":1241710739000},"page":"1571-1578","source":"Crossref","is-referenced-by-count":65,"title":["The association between mutations in the lysosomal protein glucocerebrosidase and 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