{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T09:54:17Z","timestamp":1756461257276,"version":"3.37.3"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2023,12,28]],"date-time":"2023-12-28T00:00:00Z","timestamp":1703721600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,12,28]],"date-time":"2023-12-28T00:00:00Z","timestamp":1703721600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002332","name":"Semmelweis University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002332","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Introduction<\/jats:title>\n                <jats:p>Parkinson\u2019s disease (PD) has a complex genetic background involving both rare and common genetic variants. Although a small percentage of cases show a clear Mendelian inheritance pattern, it is much more relevant to identify patients who present with a complex genetic profile of risk variants with different severity. The \u00df-glucocerebrosidase coding gene (<jats:italic>GBA1<\/jats:italic>) is recognized as the most frequent genetic risk factor for PD and Lewy body dementia, irrespective of reduction of the enzyme activity due to genetic variants.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>In a selected cohort of 190 Hungarian patients with clinical signs of PD and suspected genetic risk, we performed the genetic testing of the <jats:italic>GBA1<\/jats:italic> gene. As other genetic hits can modify clinical features, we also screened for additional rare variants in other neurodegenerative genes and assessed the APOE-\u03b5 genotype of the patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>In our cohort, we identified 29 <jats:italic>GBA1<\/jats:italic> rare variant (RV) carriers. Out of the six different detected RVs, the highly debated E365K and T408M variants are composed of the majority of them (22 out of 32). Three patients carried two <jats:italic>GBA1<\/jats:italic> variants, and an additional three patients carried rare variants in other neurodegenerative genes (<jats:italic>SMPD1<\/jats:italic>, <jats:italic>SPG11<\/jats:italic>, and <jats:italic>SNCA<\/jats:italic>). We did not observe differences in age at onset or other clinical features of the patients carrying two <jats:italic>GBA1<\/jats:italic> variants or patients carrying heterozygous APOE-\u03b54 allele.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>We need further studies to better understand the drivers of clinical differences in these patients, as this could have important therapeutic implications.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s10072-023-07213-w","type":"journal-article","created":{"date-parts":[[2023,12,28]],"date-time":"2023-12-28T12:02:26Z","timestamp":1703764946000},"page":"2671-2679","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["GBA-associated Parkinson\u2019s disease in Hungary: clinical features and genetic insights"],"prefix":"10.1007","volume":"45","author":[{"given":"Tam\u00e1s","family":"Szlep\u00e1k","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annabel P.","family":"Kossev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D\u00f3ra","family":"Csab\u00e1n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anett","family":"Ill\u00e9s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Szabolcs","family":"Udvari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e9ter","family":"Balicza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Be\u00e1ta","family":"Borsos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annam\u00e1ria","family":"Tak\u00e1ts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e9ter","family":"Kliv\u00e9nyi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1ria J.","family":"Moln\u00e1r","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,12,28]]},"reference":[{"issue":"3","key":"7213_CR1","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1016\/j.gde.2009.03.008","volume":"19","author":"J Hardy","year":"2009","unstructured":"Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C (2009) The genetics of Parkinson\u2019s syndromes: a critical review. Curr Opin Genet Dev 19(3):254\u2013265. https:\/\/doi.org\/10.1016\/j.gde.2009.03.008","journal-title":"Curr Opin Genet Dev"},{"key":"7213_CR2","doi-asserted-by":"publisher","unstructured":"Martin I, Dawson VL, Dawson TM (2011) Recent advances in the genetics of Parkinson\u2019s disease.\u00a0Annu Rev Genomics\u00a0Hum Genet 12:301\u2013325. https:\/\/doi.org\/10.1146\/annurev-genom-082410-101440","DOI":"10.1146\/annurev-genom-082410-101440"},{"issue":"6","key":"7213_CR3","doi-asserted-by":"publisher","first-page":"1153","DOI":"10.1007\/s10571-018-0587-4","volume":"38","author":"A Karimi-Moghadam","year":"2018","unstructured":"Karimi-Moghadam A, Charsouei S, Bell B, Jabalameli MR (2018) Parkinson disease from Mendelian forms to genetic susceptibility: new molecular insights into the neurodegeneration process. Cell Mol Neurobiol 38(6):1153\u20131178. https:\/\/doi.org\/10.1007\/s10571-018-0587-4","journal-title":"Cell Mol Neurobiol"},{"issue":"8","key":"7213_CR4","doi-asserted-by":"publisher","first-page":"2255","DOI":"10.1093\/brain\/awy147","volume":"141","author":"AD Klein","year":"2018","unstructured":"Klein AD, Mazzulli JR (2018) Is Parkinson\u2019s disease a lysosomal disorder? Brain 141(8):2255\u20132262. https:\/\/doi.org\/10.1093\/brain\/awy147","journal-title":"Brain"},{"issue":"9","key":"7213_CR5","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1080\/15548627.2015.1067364","volume":"11","author":"Z Gan-Or","year":"2015","unstructured":"Gan-Or Z, Dion PA, Rouleau GA (2015) Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease. Autophagy 11(9):1443\u20131457. https:\/\/doi.org\/10.1080\/15548627.2015.1067364","journal-title":"Autophagy"},{"issue":"8","key":"7213_CR6","doi-asserted-by":"publisher","first-page":"70","DOI":"10.3390\/cells11081261","volume":"11","author":"L Smith","year":"2022","unstructured":"Smith L, Schapira AHV (2022) GBA variants and parkinson disease: mechanisms and treatments. Cells 11(8):70\u201372. https:\/\/doi.org\/10.3390\/cells11081261","journal-title":"Cells"},{"issue":"11","key":"7213_CR7","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1016\/S1474-4422(12)70190-4","volume":"11","author":"E Sidransky","year":"2012","unstructured":"Sidransky E, Lopez G (2012) The link between the GBA gene and parkinsonism. Lancet Neurol 11(11):986\u2013998. https:\/\/doi.org\/10.1016\/S1474-4422(12)70190-4","journal-title":"Lancet Neurol"},{"issue":"9645","key":"7213_CR8","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(9645):1263\u20131271. https:\/\/doi.org\/10.1016\/S0140-6736(08)61522-6","journal-title":"Lancet"},{"issue":"4","key":"7213_CR9","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1002\/acn3.177","volume":"2","author":"EM Rocha","year":"2015","unstructured":"Rocha EM et al (2015) Progressive decline of glucocerebrosidase in aging and Parkinson\u2019s disease. Ann Clin Transl Neurol 2(4):433\u2013438. https:\/\/doi.org\/10.1002\/acn3.177","journal-title":"Ann Clin Transl Neurol"},{"issue":"6","key":"7213_CR10","doi-asserted-by":"publisher","first-page":"e685","DOI":"10.1212\/WNL.0000000000009989","volume":"95","author":"YE Huh","year":"2020","unstructured":"Huh YE et al (2020) \u03b2-Glucocerebrosidase activity in GBA-linked Parkinson disease: the type of mutation matters. Neurology 95(6):e685\u2013e696. https:\/\/doi.org\/10.1212\/WNL.0000000000009989","journal-title":"Neurology"},{"issue":"1","key":"7213_CR11","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/j.cell.2011.06.001","volume":"146","author":"JR Mazzulli","year":"2011","unstructured":"Mazzulli JR et al (2011) Gaucher disease glucocerebrosidase and \u03b1-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 146(1):37\u201352. https:\/\/doi.org\/10.1016\/j.cell.2011.06.001","journal-title":"Cell"},{"issue":"12","key":"7213_CR12","doi-asserted-by":"publisher","first-page":"2201","DOI":"10.1002\/mds.28225","volume":"35","author":"A Greuel","year":"2020","unstructured":"Greuel A et al (2020) GBA variants in Parkinson\u2019s disease: clinical, metabolomic, and multimodal neuroimaging phenotypes. Mov Disord 35(12):2201\u20132210. https:\/\/doi.org\/10.1002\/mds.28225","journal-title":"Mov Disord"},{"issue":"5","key":"7213_CR13","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1212\/01.wnl.0000230215.41296.18","volume":"67","author":"O Goker-Alpan","year":"2006","unstructured":"Goker-Alpan O et al (2006) Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology 67(5):908\u2013910. https:\/\/doi.org\/10.1212\/01.wnl.0000230215.41296.18","journal-title":"Neurology"},{"issue":"Pt 7","key":"7213_CR14","doi-asserted-by":"publisher","first-page":"1783","DOI":"10.1093\/brain\/awp044","volume":"132","author":"J Neumann","year":"2009","unstructured":"Neumann J et al (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson\u2019s disease. Brain 132(Pt 7):1783\u20131794. https:\/\/doi.org\/10.1093\/brain\/awp044","journal-title":"Brain"},{"issue":"4","key":"7213_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1212\/NXG.0000000000000348","volume":"5","author":"H Iwaki","year":"2019","unstructured":"Iwaki H et al (2019) Genetic risk of Parkinson disease and progression: an analysis of 13 longitudinal cohorts. Neurol Genet 5(4):1\u201314. https:\/\/doi.org\/10.1212\/NXG.0000000000000348","journal-title":"Neurol Genet"},{"issue":"4","key":"7213_CR16","doi-asserted-by":"publisher","first-page":"40","DOI":"10.3390\/cells8040364","volume":"8","author":"GM Riboldi","year":"2019","unstructured":"Riboldi GM, Di Fonzo AB (2019) GBA, Gaucher disease, and Parkinson\u2019s disease: from genetic to clinic to new therapeutic approaches. Cells 8(4):40. https:\/\/doi.org\/10.3390\/cells8040364","journal-title":"Cells"},{"issue":"2","key":"7213_CR17","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1002\/mds.25248","volume":"28","author":"R Duran","year":"2013","unstructured":"Duran R et al (2013) The glucocerobrosidase E326K variant predisposes to Parkinson\u2019s disease, but does not cause Gaucher\u2019s disease. Mov Disord 28(2):232\u2013236. https:\/\/doi.org\/10.1002\/mds.25248","journal-title":"Mov Disord"},{"issue":"7","key":"7213_CR18","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1016\/j.parkreldis.2015.03.029","volume":"21","author":"M Spitz","year":"2015","unstructured":"Spitz M et al (2015) Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson\u2019s disease. Parkinsonism Relat Disord 21(7):825\u2013826. https:\/\/doi.org\/10.1016\/j.parkreldis.2015.03.029","journal-title":"Parkinsonism Relat Disord"},{"key":"7213_CR19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fnins.2020.00442","volume":"14","author":"A Sanyal","year":"2020","unstructured":"Sanyal A, Novis HS, Gasser E, Lin S, LaVoie MJ (2020) LRRK2 kinase inhibition rescues deficits in lysosome function due to heterozygous GBA1 expression in human iPSC-derived neurons. Front Neurosci 14:1\u201316. https:\/\/doi.org\/10.3389\/fnins.2020.00442","journal-title":"Front Neurosci"},{"issue":"1","key":"7213_CR20","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1093\/brain\/awz350","volume":"143","author":"C Blauwendraat","year":"2020","unstructured":"Blauwendraat C et al (2020) Genetic modifiers of risk and age at onset in GBA associated Parkinson\u2019s disease and Lewy body dementia. Brain 143(1):234\u2013248. https:\/\/doi.org\/10.1093\/brain\/awz350","journal-title":"Brain"},{"issue":"12","key":"7213_CR21","doi-asserted-by":"publisher","first-page":"3191","DOI":"10.1093\/brain\/awx285","volume":"140","author":"LA Robak","year":"2017","unstructured":"Robak LA et al (2017) Excessive burden of lysosomal storage disorder gene variants in Parkinson\u2019s disease. Brain 140(12):3191\u20133203. https:\/\/doi.org\/10.1093\/brain\/awx285","journal-title":"Brain"},{"key":"7213_CR22","doi-asserted-by":"publisher","unstructured":"Aslam M et al (2021) Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson\u2019s disease. NPJ Genom Med 6(1). https:\/\/doi.org\/10.1038\/s41525-020-00163-8","DOI":"10.1038\/s41525-020-00163-8"},{"issue":"6","key":"7213_CR23","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1016\/j.jalz.2016.01.012","volume":"12","author":"R Cacace","year":"2016","unstructured":"Cacace R, Sleegers K, Van Broeckhoven C (2016) Molecular genetics of early-onset Alzheimer\u2019s disease revisited. Alzheimers Dement 12(6):733\u2013748. https:\/\/doi.org\/10.1016\/j.jalz.2016.01.012","journal-title":"Alzheimers Dement"},{"issue":"1","key":"7213_CR24","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-019-43458-2","volume":"9","author":"A Rongve","year":"2019","unstructured":"Rongve A et al (2019) GBA and APOE \u03b54 associate with sporadic dementia with Lewy bodies in European genome wide association study. Sci Rep 9(1):1\u20138. https:\/\/doi.org\/10.1038\/s41598-019-43458-2","journal-title":"Sci Rep"},{"issue":"6","key":"7213_CR25","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1038\/s41588-021-00847-6","volume":"53","author":"G Liu","year":"2021","unstructured":"Liu G et al (2021) Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson\u2019s disease. Nat Genet 53(6):787\u2013793. https:\/\/doi.org\/10.1038\/s41588-021-00847-6","journal-title":"Nat Genet"},{"issue":"4","key":"7213_CR26","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1371\/journal.pone.0175560","volume":"12","author":"I Huertas","year":"2017","unstructured":"Huertas I et al (2017) Genetic factors influencing frontostriatal dysfunction and the development of dementia in Parkinson\u2019s disease. PLoS One 12(4):1\u201311. https:\/\/doi.org\/10.1371\/journal.pone.0175560","journal-title":"PLoS One"},{"issue":"2","key":"7213_CR27","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1002\/mds.28342","volume":"36","author":"MMX Tan","year":"2021","unstructured":"Tan MMX et al (2021) Genome-wide association studies of cognitive and motor progression in Parkinson\u2019s disease. Mov Disord 36(2):424\u2013433. https:\/\/doi.org\/10.1002\/mds.28342","journal-title":"Mov Disord"},{"issue":"5","key":"7213_CR28","doi-asserted-by":"publisher","first-page":"1016","DOI":"10.1002\/mds.28932","volume":"37","author":"AA Szwedo","year":"2022","unstructured":"Szwedo AA et al (2022) GBA and APOE impact cognitive decline in parkinson\u2019s disease: a 10-year population-based study. Mov Disord 37(5):1016\u20131027. https:\/\/doi.org\/10.1002\/mds.28932","journal-title":"Mov Disord"},{"issue":"3","key":"7213_CR29","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.3233\/JAD-201295","volume":"80","author":"T Shiner","year":"2021","unstructured":"Shiner T et al (2021) The effect of GBA mutations and APOE polymorphisms on dementia with Lewy bodies in Ashkenazi jews. J Alzheimers Dis 80(3):1221\u20131229. https:\/\/doi.org\/10.3233\/JAD-201295","journal-title":"J Alzheimers Dis"},{"key":"7213_CR30","doi-asserted-by":"publisher","unstructured":"Ill\u00e9s A et al (2019) The role of genetic testing in the clinical practice and research of early-onset parkinsonian disorders in a Hungarian cohort: increasing challenge in genetic counselling, improving chances in stratification for clinical trials. Front Genet 10. https:\/\/doi.org\/10.3389\/fgene.2019.01061","DOI":"10.3389\/fgene.2019.01061"},{"issue":"3","key":"7213_CR31","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1016\/s0022-2275(20)43176-1","volume":"31","author":"JE Hixson","year":"1990","unstructured":"Hixson JE, Vernier DT (1990) Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31(3):545\u2013548. https:\/\/doi.org\/10.1016\/s0022-2275(20)43176-1","journal-title":"J Lipid Res"},{"key":"7213_CR32","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/j.neulet.2015.11.001","volume":"610","author":"R T\u00f6r\u00f6k","year":"2016","unstructured":"T\u00f6r\u00f6k R, Z\u00e1dori D, T\u00f6r\u00f6k N, Csility E, V\u00e9csei L, Kliv\u00e9nyi P (2016) An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson\u2019s disease. Neurosci Lett 610:135\u2013138. https:\/\/doi.org\/10.1016\/j.neulet.2015.11.001","journal-title":"Neurosci Lett"},{"issue":"2","key":"7213_CR33","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1111\/j.1468-1331.2012.03817.x","volume":"20","author":"KR Kumar","year":"2013","unstructured":"Kumar KR et al (2013) Glucocerebrosidase mutations in a Serbian Parkinson\u2019s disease population. Eur J Neurol 20(2):402\u2013405. https:\/\/doi.org\/10.1111\/j.1468-1331.2012.03817.x","journal-title":"Eur J Neurol"},{"issue":"4","key":"7213_CR34","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1016\/j.pjnns.2014.07.005","volume":"48","author":"M Malec-Litwinowicz","year":"2014","unstructured":"Malec-Litwinowicz M, Rudzi\u0144ska M, Szubiga M, Michalski M, Tomaszewski T, Szczudlik A (2014) Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients. Neurol Neurochir Pol 48(4):258\u2013261. https:\/\/doi.org\/10.1016\/j.pjnns.2014.07.005","journal-title":"Neurol Neurochir Pol"},{"issue":"1","key":"7213_CR35","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1038\/s41531-022-00408-6","volume":"8","author":"A Kovanda","year":"2022","unstructured":"Kovanda A et al (2022) A multicenter study of genetic testing for Parkinson\u2019s disease in the clinical setting. NPJ Parkinsons Dis 8(1):2\u20135. https:\/\/doi.org\/10.1038\/s41531-022-00408-6","journal-title":"NPJ Parkinsons Dis"},{"issue":"1","key":"7213_CR36","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1002\/mds.26359","volume":"31","author":"IF Mata","year":"2016","unstructured":"Mata IF et al (2016) GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson\u2019s disease. Mov Disord 31(1):95\u2013102. https:\/\/doi.org\/10.1002\/mds.26359","journal-title":"Mov Disord"},{"issue":"4","key":"7213_CR37","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1212\/01.wnl.0000327823.81237.d1","volume":"72","author":"WC Nichols","year":"2009","unstructured":"Nichols WC et al (2009) Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 72(4):310\u2013316. https:\/\/doi.org\/10.1212\/01.wnl.0000327823.81237.d1","journal-title":"Neurology"},{"issue":"24","key":"7213_CR38","doi-asserted-by":"publisher","first-page":"5483","DOI":"10.1093\/hmg\/ddw348","volume":"25","author":"SJ Lubbe","year":"2016","unstructured":"Lubbe SJ et al (2016) Additional rare variant analysis in Parkinson\u2019s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Hum Mol Genet 25(24):5483\u20135489. https:\/\/doi.org\/10.1093\/hmg\/ddw348","journal-title":"Hum Mol Genet"},{"issue":"7","key":"7213_CR39","doi-asserted-by":"publisher","first-page":"5025","DOI":"10.1007\/s12035-015-9426-5","volume":"53","author":"S Deng","year":"2016","unstructured":"Deng S et al (2016) Systematic genetic analysis of the SMPD1 gene in chinese patients with Parkinson\u2019s disease. Mol Neurobiol 53(7):5025\u20135029. https:\/\/doi.org\/10.1007\/s12035-015-9426-5","journal-title":"Mol Neurobiol"},{"issue":"4","key":"7213_CR40","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1002\/mds.27642","volume":"34","author":"RN Alcalay","year":"2019","unstructured":"Alcalay RN et al (2019) SMPD1 mutations, activity, and \u03b1-synuclein accumulation in Parkinson\u2019s disease. Mov Disord 34(4):526\u2013535. https:\/\/doi.org\/10.1002\/mds.27642","journal-title":"Mov Disord"},{"issue":"11","key":"7213_CR41","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/cells9112399","volume":"9","author":"A Navarro-Romero","year":"2020","unstructured":"Navarro-Romero A, Montpey\u00f3 M, Martinez-Vicente M (2020) The emerging role of the lysosome in Parkinson\u2019s disease. Cells 9(11):1\u201325. https:\/\/doi.org\/10.3390\/cells9112399","journal-title":"Cells"},{"issue":"1","key":"7213_CR42","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s40478-020-00935-4","volume":"8","author":"S Smolders","year":"2020","unstructured":"Smolders S, Van Broeckhoven C (2020) Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson\u2019s disease pathogenesis. Acta Neuropathol Commun 8(1):1\u201328. https:\/\/doi.org\/10.1186\/s40478-020-00935-4","journal-title":"Acta Neuropathol Commun"},{"issue":"4","key":"7213_CR43","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1001\/jamaneurol.2017.4243","volume":"75","author":"R Savica","year":"2018","unstructured":"Savica R, Bradley BF, Mielke MM (2018) When do a-synucleinopathies start? An epidemiological timeline a review. JAMA Neurol 75(4):503\u2013509. https:\/\/doi.org\/10.1001\/jamaneurol.2017.4243","journal-title":"JAMA Neurol"},{"issue":"3","key":"7213_CR44","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1002\/mds.23552","volume":"26","author":"A Guidubaldi","year":"2011","unstructured":"Guidubaldi A et al (2011) Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism. Mov Disord 26(3):553\u2013556. https:\/\/doi.org\/10.1002\/mds.23552","journal-title":"Mov Disord"},{"issue":"7","key":"7213_CR45","doi-asserted-by":"publisher","first-page":"1904","DOI":"10.1093\/brain\/aww111","volume":"139","author":"E Kara","year":"2016","unstructured":"Kara E et al (2016) Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 139(7):1904\u20131918. https:\/\/doi.org\/10.1093\/brain\/aww111","journal-title":"Brain"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-023-07213-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-023-07213-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-023-07213-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T03:41:05Z","timestamp":1715312465000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-023-07213-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,28]]},"references-count":45,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["7213"],"URL":"https:\/\/doi.org\/10.1007\/s10072-023-07213-w","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"type":"print","value":"1590-1874"},{"type":"electronic","value":"1590-3478"}],"subject":[],"published":{"date-parts":[[2023,12,28]]},"assertion":[{"value":"23 July 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 November 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 December 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":"Written informed consent in accordance with the Declaration of Helsinki was signed by patients, and control subjects before blood collection and molecular genetic analysis were made. The study was approved by the Hungarian Scientific and Research Ethical Committee. Molecular genetic analysis was performed for diagnostic purposes in all investigated patients.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The authors have no conflicts of interest to declare. Maria Judit Molnar is an Advisory Board Member of Neurological Sciences.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}