{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T13:21:04Z","timestamp":1754486464857,"version":"3.37.3"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T00:00:00Z","timestamp":1686009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T00:00:00Z","timestamp":1686009600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32170617","31970558"],"award-info":[{"award-number":["32170617","31970558"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Key S&T Special Projects","award":["2021YFC100530"],"award-info":[{"award-number":["2021YFC100530"]}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2020A1515010308","2020B1515120009","2022A1515012621"],"award-info":[{"award-number":["2020A1515010308","2020B1515120009","2022A1515012621"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neural Transm"],"published-print":{"date-parts":[[2023,7]]},"DOI":"10.1007\/s00702-023-02651-4","type":"journal-article","created":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T19:21:16Z","timestamp":1686079276000},"page":"905-913","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The loss of function GBA1 c.231C\u2009&gt;\u2009G mutation associated with Parkinson disease"],"prefix":"10.1007","volume":"130","author":[{"given":"Dejie","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7902-6307","authenticated-orcid":false,"given":"Yingchun","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guilian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanbing","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boyang","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fu","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Quanxi","family":"Su","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,6,6]]},"reference":[{"key":"2651_CR1","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1001\/jamaneurol.2014.313","volume":"71","author":"RN Alcalay","year":"2014","unstructured":"Alcalay RN, Dinur T, Quinn T, Sakanaka K, Levy O, Waters C, Fahn S, Dorovski T, Chung WK, Pauciulo M et al (2014) Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol 71:752\u2013757","journal-title":"JAMA Neurol"},{"key":"2651_CR2","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/j.nbd.2015.06.008","volume":"82","author":"G Ambrosi","year":"2015","unstructured":"Ambrosi G, Ghezzi C, Zangaglia R, Levandis G, Pacchetti C, Blandini F (2015) Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson\u2019s disease cells. Neurobiol Dis 82:235\u2013242","journal-title":"Neurobiol Dis"},{"key":"2651_CR3","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1136\/jnnp-2019-320394","volume":"90","author":"M Avenali","year":"2019","unstructured":"Avenali M, Toffoli M, Mullin S, McNeil A, Hughes DA, Mehta A, Blandini F, Schapira A (2019) Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study. J Neurol Neurosurg Psychiatry 90:1091\u20131097","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2651_CR4","doi-asserted-by":"publisher","first-page":"97","DOI":"10.3389\/fnagi.2020.00097","volume":"12","author":"M Avenali","year":"2020","unstructured":"Avenali M, Blandini F, Cerri S (2020) Glucocerebrosidase defects as a major risk factor for parkinson\u2019s disease. Front Aging Neurosci 12:97","journal-title":"Front Aging Neurosci"},{"key":"2651_CR5","doi-asserted-by":"publisher","first-page":"2111","DOI":"10.1002\/mds.28200","volume":"35","author":"R Balestrino","year":"2020","unstructured":"Balestrino R, Tunesi S, Tesei S, Lopiano L, Zecchinelli AL, Goldwurm S (2020) Penetrance of glucocerebrosidase (GBA) mutations in Parkinson\u2019s disease: a kin cohort study. Mov Disord 35:2111\u20132114","journal-title":"Mov Disord"},{"key":"2651_CR6","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1212\/01.WNL.0000072482.70963.D7","volume":"61","author":"B Bembi","year":"2003","unstructured":"Bembi B, Zambito MS, Sidransky E, Ciana G, Carrozzi M, Zorzon M, Martini C, Gioulis M, Pittis MG, Capus L (2003) Gaucher\u2019s disease with Parkinson\u2019s disease: clinical and pathological aspects. Neurology 61:99\u2013101","journal-title":"Neurology"},{"key":"2651_CR7","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1126\/science.256.5058.794","volume":"256","author":"E Beutler","year":"1992","unstructured":"Beutler E (1992) Gaucher disease: new molecular approaches to diagnosis and treatment. Science 256:794\u2013799","journal-title":"Science"},{"key":"2651_CR8","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1093\/brain\/awz350","volume":"143","author":"C Blauwendraat","year":"2020","unstructured":"Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston R et al (2020) Genetic modifiers of risk and age at onset in GBA associated Parkinson\u2019s disease and Lewy body dementia. Brain 143:234\u2013248","journal-title":"Brain"},{"key":"2651_CR9","doi-asserted-by":"publisher","first-page":"2046","DOI":"10.1002\/mds.28191","volume":"35","author":"Y Chen","year":"2020","unstructured":"Chen Y, Gu X, Ou R, Zhang L, Hou Y, Liu K, Cao B, Wei Q, Li C, Song W et al (2020) Evaluating the role of SNCA, LRRK2, and GBA in Chinese patients with early-onset parkinson\u2019s disease. Mov Disord 35:2046\u20132055","journal-title":"Mov Disord"},{"key":"2651_CR10","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1038\/s41588-021-00785-3","volume":"53","author":"R Chia","year":"2021","unstructured":"Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J et al (2021) Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nat Genet 53:294\u2013303","journal-title":"Nat Genet"},{"key":"2651_CR11","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1016\/j.neulet.2012.02.035","volume":"514","author":"JM Choi","year":"2012","unstructured":"Choi JM, Kim WC, Lyoo CH, Kang SY, Lee PH, Baik JS, Koh SB, Ma HI, Sohn YH, Lee MS et al (2012) Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population. Neurosci Lett 514:12\u201315","journal-title":"Neurosci Lett"},{"key":"2651_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.neuint.2012.10.010","volume":"62","author":"MW Cleeter","year":"2013","unstructured":"Cleeter MW, Chau KY, Gluck C, Mehta A, Hughes DA, Duchen M, Wood NW, Hardy J, Mark CJ, Schapira AH (2013) Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochem Int 62:1\u20137","journal-title":"Neurochem Int"},{"key":"2651_CR13","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/bs.pbr.2020.02.001","volume":"252","author":"LA Cunningham","year":"2020","unstructured":"Cunningham LA, Moore DJ (2020) Endosomal sorting pathways in the pathogenesis of Parkinson\u2019s disease. Prog Brain Res 252:271\u2013306","journal-title":"Prog Brain Res"},{"key":"2651_CR14","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1016\/j.bcmd.2016.10.026","volume":"68","author":"Y Feng","year":"2018","unstructured":"Feng Y, Huang Y, Tang C, Hu H, Zhao X, Sheng H, Zhang W, Tan M, Xie T, Zheng J et al (2018) Clinical and molecular characteristics of patients with Gaucher disease in Southern China. Blood Cells Mol Dis 68:30\u201334","journal-title":"Blood Cells Mol Dis"},{"key":"2651_CR15","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1002\/ana.23614","volume":"72","author":"ME Gegg","year":"2012","unstructured":"Gegg ME, Burke D, Heales SJ, Cooper JM, Hardy J, Wood NW, Schapira AH (2012) Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol 72:455\u2013463","journal-title":"Ann Neurol"},{"key":"2651_CR16","doi-asserted-by":"publisher","first-page":"1716","DOI":"10.1093\/hmg\/ddaa085","volume":"29","author":"ME Gegg","year":"2020","unstructured":"Gegg ME, Verona G, Schapira A (2020) Glucocerebrosidase deficiency promotes release of alpha-synuclein fibrils from cultured neurons. Hum Mol Genet 29:1716\u20131728","journal-title":"Hum Mol Genet"},{"key":"2651_CR17","first-page":"120","volume":"62","author":"M Ghaheri","year":"2016","unstructured":"Ghaheri M, Kahrizi D, Yari K, Babaie A, Suthar RS, Kazemi E (2016) A comparative evaluation of four DNA extraction protocols from whole blood sample. Cell Mol Biol 62:120\u2013124","journal-title":"Cell Mol Biol"},{"key":"2651_CR18","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1136\/jmg.2004.024455","volume":"41","author":"O Goker-Alpan","year":"2004","unstructured":"Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E (2004) Parkinsonism among Gaucher disease carriers. J Med Genet 41:937\u2013940","journal-title":"J Med Genet"},{"key":"2651_CR19","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1007\/s00401-010-0741-7","volume":"120","author":"O Goker-Alpan","year":"2010","unstructured":"Goker-Alpan O, Stubblefield BK, Giasson BI, Sidransky E (2010) Glucocerebrosidase is present in alpha-synuclein inclusions in Lewy body disorders. Acta Neuropathol 120:641\u2013649","journal-title":"Acta Neuropathol"},{"key":"2651_CR20","doi-asserted-by":"publisher","first-page":"1263","DOI":"10.1016\/S0140-6736(08)61522-6","volume":"372","author":"GA Grabowski","year":"2008","unstructured":"Grabowski GA (2008) Phenotype, diagnosis, and treatment of Gaucher\u2019s disease. Lancet 372:1263\u20131271","journal-title":"Lancet"},{"key":"2651_CR21","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1016\/j.bcmd.2006.02.004","volume":"36","author":"A Halperin","year":"2006","unstructured":"Halperin A, Elstein D, Zimran A (2006) Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis 36:426\u2013428","journal-title":"Blood Cells Mol Dis"},{"key":"2651_CR22","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/0888-7543(89)90319-4","volume":"4","author":"M Horowitz","year":"1989","unstructured":"Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E (1989) The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 4:87\u201396","journal-title":"Genomics"},{"key":"2651_CR23","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1002\/humu.20676","volume":"29","author":"KS Hruska","year":"2008","unstructured":"Hruska KS, LaMarca ME, Scott CR, Sidransky E (2008) Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 29:567\u2013583","journal-title":"Hum Mutat"},{"key":"2651_CR24","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1136\/jnnp-2017-317348","volume":"89","author":"N Malek","year":"2018","unstructured":"Malek N, Weil RS, Bresner C, Lawton MA, Grosset KA, Tan M, Bajaj N, Barker RA, Burn DJ, Foltynie T et al (2018) Features of GBA-associated Parkinson\u2019s disease at presentation in the UK Tracking Parkinson\u2019s study. J Neurol Neurosurg Psychiatry 89:702\u2013709","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2651_CR25","doi-asserted-by":"publisher","first-page":"1481","DOI":"10.1093\/brain\/awu020","volume":"137","author":"A McNeill","year":"2014","unstructured":"McNeill A, Magalhaes J, Shen C, Chau KY, Hughes D, Mehta A, Foltynie T, Cooper JM, Abramov AY, Gegg M et al (2014) Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain 137:1481\u20131495","journal-title":"Brain"},{"key":"2651_CR26","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ncl.2014.09.010","volume":"33","author":"S Mullin","year":"2015","unstructured":"Mullin S, Schapira AH (2015) Pathogenic mechanisms of neurodegeneration in Parkinson disease. Neurol Clin 33:1\u201317","journal-title":"Neurol Clin"},{"key":"2651_CR27","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1038\/ng.3043","volume":"46","author":"MA Nalls","year":"2014","unstructured":"Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M et al (2014) Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson\u2019s disease. Nat Genet 46:989\u2013993","journal-title":"Nat Genet"},{"key":"2651_CR28","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1093\/qjmed\/89.9.691","volume":"89","author":"O Neudorfer","year":"1996","unstructured":"Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E, Reches A, Bembi B, Zimran A (1996) Occurrence of Parkinson\u2019s syndrome in type I Gaucher disease. QJM 89:691\u2013694","journal-title":"QJM"},{"key":"2651_CR29","doi-asserted-by":"publisher","first-page":"1651","DOI":"10.1056\/NEJMoa0901281","volume":"361","author":"E Sidransky","year":"2009","unstructured":"Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A et al (2009a) Multicenter analysis of glucocerebrosidase mutations in Parkinson\u2019s disease. N Engl J Med 361:1651\u20131661","journal-title":"N Engl J Med"},{"issue":"1424\u20131425","key":"2651_CR30","first-page":"1425","volume":"73","author":"E Sidransky","year":"2009","unstructured":"Sidransky E, Samaddar T, Tayebi N (2009b) Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 73(1424\u20131425):1425\u20131426","journal-title":"Neurology"},{"key":"2651_CR31","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1001\/archneur.64.7.1056","volume":"64","author":"EK Tan","year":"2007","unstructured":"Tan EK, Tong J, Fook-Chong S, Yih Y, Wong MC, Pavanni R, Zhao Y (2007) Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Arch Neurol 64:1056\u20131058","journal-title":"Arch Neurol"},{"key":"2651_CR32","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1006\/mgme.2001.3201","volume":"73","author":"N Tayebi","year":"2001","unstructured":"Tayebi N, Callahan M, Madike V, Stubblefield BK, Orvisky E, Krasnewich D, Fillano JJ, Sidransky E (2001) Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 73:313\u2013321","journal-title":"Mol Genet Metab"},{"key":"2651_CR33","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1016\/S1096-7192(03)00071-4","volume":"79","author":"N Tayebi","year":"2003","unstructured":"Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E (2003) Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 79:104\u2013109","journal-title":"Mol Genet Metab"},{"key":"2651_CR34","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1163\/15685590260461084","volume":"32","author":"J Varkonyi","year":"2002","unstructured":"Varkonyi J, Simon Z, Soos K, Poros A (2002) Gaucher disease type I complicated with Parkinson\u2019s syndrome. Haematologia (budap) 32:271\u2013275","journal-title":"Haematologia (budap)"}],"container-title":["Journal of Neural Transmission"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00702-023-02651-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00702-023-02651-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00702-023-02651-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T15:06:39Z","timestamp":1687791999000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00702-023-02651-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,6]]},"references-count":34,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["2651"],"URL":"https:\/\/doi.org\/10.1007\/s00702-023-02651-4","relation":{},"ISSN":["0300-9564","1435-1463"],"issn-type":[{"type":"print","value":"0300-9564"},{"type":"electronic","value":"1435-1463"}],"subject":[],"published":{"date-parts":[[2023,6,6]]},"assertion":[{"value":"6 March 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 May 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 June 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Approval was obtained from the Ethics Committee of Yunfu People\u2019s Hospital, an affiliate of Southern Medical University. The procedures used in this study adhere to the tenets of the Declaration of Helsinki. Written informed consent was obtained from all participants.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical standards"}}]}}