{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:15:03Z","timestamp":1792782903209,"version":"4.5.0"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T00:00:00Z","timestamp":1642550400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T00:00:00Z","timestamp":1642550400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100007452","name":"wu jieping medical foundation","doi-asserted-by":"publisher","award":["LCYX-Q001"],"award-info":[{"award-number":["LCYX-Q001"]}],"id":[{"id":"10.13039\/100007452","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007452","name":"wu jieping medical foundation","doi-asserted-by":"publisher","award":["320.6750.19090-11"],"award-info":[{"award-number":["320.6750.19090-11"]}],"id":[{"id":"10.13039\/100007452","id-type":"DOI","asserted-by":"publisher"}]},{"name":"the scientific research program of hunan provincial health commission","award":["No.20200475"],"award-info":[{"award-number":["No.20200475"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2022,6]]},"DOI":"10.1007\/s10072-022-05900-8","type":"journal-article","created":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T03:03:22Z","timestamp":1642561402000},"page":"3683-3694","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genetic screening in patients of Meige syndrome and blepharospasm"],"prefix":"10.1007","volume":"43","author":[{"given":"Xinqi","family":"Teng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Qu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Shu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaoe","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bei","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6694-2450","authenticated-orcid":false,"given":"Jian","family":"Qu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,19]]},"reference":[{"key":"5900_CR1","unstructured":"Jahngir MU, Bhimji SS. Meige syndrome. StatPearls. Treasure Island (FL)2018."},{"key":"5900_CR2","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1002\/mds.26934","volume":"32","author":"G Defazio","year":"2017","unstructured":"Defazio G, Hallett M, Jinnah HA, Conte A, Berardelli A (2017) Blepharospasm 40 years later. Mov Disord 32:498\u2013509","journal-title":"Mov Disord"},{"key":"5900_CR3","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1016\/j.parkreldis.2009.04.006","volume":"15","author":"MS LeDoux","year":"2009","unstructured":"LeDoux MS (2009) Meige syndrome: what\u2019s in a name? Parkinsonism Relat Disord 15:483\u2013489","journal-title":"Parkinsonism Relat Disord"},{"key":"5900_CR4","doi-asserted-by":"publisher","first-page":"159","DOI":"10.3988\/jcn.2005.1.2.159","volume":"1","author":"WT Yoon","year":"2005","unstructured":"Yoon WT, Chung EJ, Lee SH, Kim BJ, Lee WY (2005) Clinical analysis of blepharospasm and apraxia of eyelid opening in patients with parkinsonism. J Clin Neurol 1:159\u2013165","journal-title":"J Clin Neurol"},{"key":"5900_CR5","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1093\/brain\/awl355","volume":"130","author":"G Defazio","year":"2007","unstructured":"Defazio G, Berardelli A, Hallett M (2007) Do primary adult-onset focal dystonias share aetiological factors? Brain\u202f: a journal of neurology 130:1183\u20131193","journal-title":"Brain : a journal of neurology"},{"key":"5900_CR6","doi-asserted-by":"publisher","first-page":"1746","DOI":"10.1212\/WNL.54.9.1746","volume":"54","author":"SB Bressman","year":"2000","unstructured":"Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL et al (2000) The DYT1 phenotype and guidelines for diagnostic testing. Neurology 54:1746\u20131752","journal-title":"Neurology"},{"key":"5900_CR7","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1016\/S1474-4422(09)70081-X","volume":"8","author":"SB Bressman","year":"2009","unstructured":"Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R (2009) Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. The Lancet Neurology 8:441\u2013446","journal-title":"The Lancet Neurology"},{"key":"5900_CR8","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1086\/512129","volume":"80","author":"S Makino","year":"2007","unstructured":"Makino S, Kaji R, Ando S, Tomizawa M, Yasuno K, Goto S et al (2007) Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. Am J Hum Genet 80:393\u2013406","journal-title":"Am J Hum Genet"},{"key":"5900_CR9","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1002\/mds.10411","volume":"18","author":"M Edwards","year":"2003","unstructured":"Edwards M, Wood N, Bhatia K (2003) Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature. Mov Disord 18:706\u2013711","journal-title":"Mov Disord"},{"key":"5900_CR10","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/ng0997-40","volume":"17","author":"LJ Ozelius","year":"1997","unstructured":"Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C et al (1997) The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 17:40\u201348","journal-title":"Nat Genet"},{"key":"5900_CR11","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1186\/1471-2350-10-24","volume":"10","author":"J Xiao","year":"2009","unstructured":"Xiao J, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M et al (2009) High-throughput mutational analysis of TOR1A in primary dystonia. BMC Med Genet 10:24","journal-title":"BMC Med Genet"},{"key":"5900_CR12","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1002\/mds.22471","volume":"24","author":"G Defazio","year":"2009","unstructured":"Defazio G, Matarin M, Peckham EL, Martino D, Valente EM, Singleton A et al (2009) The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Movement disorders\u202f: official journal of the Movement Disorder Society 24:613\u2013616","journal-title":"Movement disorders : official journal of the Movement Disorder Society"},{"key":"5900_CR13","doi-asserted-by":"publisher","first-page":"2661","DOI":"10.1091\/mbc.e09-01-0094","volume":"20","author":"AB Vander Heyden","year":"2009","unstructured":"Vander Heyden AB, Naismith TV, Snapp EL, Hodzic D, Hanson PI (2009) LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. Mol Biol Cell 20:2661\u20132672","journal-title":"Mol Biol Cell"},{"key":"5900_CR14","doi-asserted-by":"crossref","unstructured":"Zakirova Z, Fanutza T, Bonet J, Readhead B, Zhang W, Yi Z, et al. Mutations in THAP1\/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions. PLoS Genet. 2018;14:e1007169.","DOI":"10.1371\/journal.pgen.1007169"},{"key":"5900_CR15","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1038\/ejhg.2011.159","volume":"20","author":"K Lohmann","year":"2012","unstructured":"Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A et al (2012) Identification and functional analysis of novel THAP1 mutations. Eur J Hum Genet 20:171\u2013175","journal-title":"Eur J Hum Genet"},{"key":"5900_CR16","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1016\/j.parkreldis.2012.08.015","volume":"19","author":"G Xiromerisiou","year":"2013","unstructured":"Xiromerisiou G, Dardiotis E, Tsironi EE, Hadjigeorgiou G, Ralli S, Kara E et al (2013) THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism Relat Disord 19:404\u2013405","journal-title":"Parkinsonism Relat Disord"},{"key":"5900_CR17","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1007\/s00415-011-6196-5","volume":"259","author":"FB Cheng","year":"2012","unstructured":"Cheng FB, Ozelius LJ, Wan XH, Feng JC, Ma LY, Yang YM et al (2012) THAP1\/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. J Neurol 259:342\u2013347","journal-title":"J Neurol"},{"key":"5900_CR18","doi-asserted-by":"publisher","first-page":"1673","DOI":"10.1093\/hmg\/5.10.1673","volume":"5","author":"B Leube","year":"1996","unstructured":"Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R, Auburger G (1996) Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 5:1673\u20131677","journal-title":"Hum Mol Genet"},{"key":"5900_CR19","doi-asserted-by":"publisher","first-page":"790","DOI":"10.1126\/science.2499043","volume":"244","author":"DT Jones","year":"1989","unstructured":"Jones DT, Reed RR (1989) Golf: an olfactory neuron specific-G protein involved in odorant signal transduction. Science 244:790\u2013795","journal-title":"Science"},{"key":"5900_CR20","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1038\/ng.2496","volume":"45","author":"T Fuchs","year":"2013","unstructured":"Fuchs T, Saunders-Pullman R, Masuho I, Luciano MS, Raymond D, Factor S et al (2013) Mutations in GNAL cause primary torsion dystonia. Nat Genet 45:88\u201392","journal-title":"Nat Genet"},{"key":"5900_CR21","doi-asserted-by":"publisher","first-page":"1367","DOI":"10.1016\/j.parkreldis.2015.08.026","volume":"21","author":"LY Ma","year":"2015","unstructured":"Ma LY, Wang L, Yang YM, Wan XH (2015) Mutations in GNAL gene in 214 cases with isolated dystonia. Parkinsonism Relat Disord 21:1367\u20131368","journal-title":"Parkinsonism Relat Disord"},{"key":"5900_CR22","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1016\/j.parkreldis.2015.12.012","volume":"23","author":"M Carecchio","year":"2016","unstructured":"Carecchio M, Panteghini C, Reale C, Barzaghi C, Monti V, Romito L et al (2016) Novel GNAL mutation with intra-familial clinical heterogeneity: expanding the phenotype. Parkinsonism Relat Disord 23:66\u201371","journal-title":"Parkinsonism Relat Disord"},{"key":"5900_CR23","doi-asserted-by":"crossref","unstructured":"Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, et al. Whole-exome sequencing for variant discovery in blepharospasm. Mol Genet Genomic Med. 2018.","DOI":"10.1002\/mgg3.411"},{"key":"5900_CR24","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1212\/WNL.0b013e31829bfdf6","volume":"81","author":"G Defazio","year":"2013","unstructured":"Defazio G, Hallett M, Jinnah HA, Berardelli A (2013) Development and validation of a clinical guideline for diagnosing blepharospasm. Neurology 81:236\u2013240","journal-title":"Neurology"},{"key":"5900_CR25","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/j.parkreldis.2019.04.003","volume":"64","author":"M Hammer","year":"2019","unstructured":"Hammer M, Abravanel A, Peckham E, Mahloogi A, Majounie E, Hallett M et al (2019) Blepharospasm: a genetic screening study in 132 patients. Parkinsonism Relat Disord 64:315\u2013318","journal-title":"Parkinsonism Relat Disord"},{"key":"5900_CR26","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424","journal-title":"Genet Med"},{"key":"5900_CR27","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1002\/mds.25818","volume":"29","author":"R Saunders-Pullman","year":"2014","unstructured":"Saunders-Pullman R, Fuchs T, San Luciano M, Raymond D, Brashear A, Ortega R et al (2014) Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. Movement disorders\u202f: official journal of the Movement Disorder Society 29:812\u2013818","journal-title":"Movement disorders : official journal of the Movement Disorder Society"},{"key":"5900_CR28","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1038\/nrg1327","volume":"5","author":"F Pagani","year":"2004","unstructured":"Pagani F, Baralle FE (2004) Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet 5:389\u2013396","journal-title":"Nat Rev Genet"},{"key":"5900_CR29","doi-asserted-by":"publisher","first-page":"2510","DOI":"10.1093\/hmg\/ddt102","volume":"22","author":"SR Vemula","year":"2013","unstructured":"Vemula SR, Puschmann A, Xiao J, Zhao Y, Rudzinska M, Frei KP et al (2013) Role of Galpha(olf) in familial and sporadic adult-onset primary dystonia. Hum Mol Genet 22:2510\u20132519","journal-title":"Hum Mol Genet"},{"key":"5900_CR30","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1002\/mgg3.67","volume":"2","author":"SR Vemula","year":"2014","unstructured":"Vemula SR, Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA et al (2014) A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. Mol Genet Genomic Med 2:261\u2013272","journal-title":"Mol Genet Genomic Med"},{"key":"5900_CR31","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1126\/science.1135308","volume":"315","author":"C Kimchi-Sarfaty","year":"2007","unstructured":"Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV et al (2007) A \u201csilent\u201d polymorphism in the MDR1 gene changes substrate specificity. Science 315:525\u2013528","journal-title":"Science"},{"key":"5900_CR32","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1042\/BST20170422","volume":"46","author":"R Rauscher","year":"2018","unstructured":"Rauscher R, Ignatova Z (2018) Timing during translation matters: synonymous mutations in human pathologies influence protein folding and function. Biochem Soc Trans 46:937\u2013944","journal-title":"Biochem Soc Trans"},{"key":"5900_CR33","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.jgg.2015.02.001","volume":"42","author":"Q Huang","year":"2015","unstructured":"Huang Q (2015) Genetic study of complex diseases in the post-GWAS era. J Genet Genomics 42:87\u201398","journal-title":"J Genet Genomics"},{"key":"5900_CR34","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.1002\/mds.26717","volume":"31","author":"M Miltgen","year":"2016","unstructured":"Miltgen M, Blanchard A, Mathieu H, Kreisler A, Jean Pierre D, Salgado D et al (2016) Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia. Movement disorders\u202f: official journal of the Movement Disorder Society 31:1251\u20131252","journal-title":"Movement disorders : official journal of the Movement Disorder Society"},{"key":"5900_CR35","doi-asserted-by":"crossref","unstructured":"Siokas V, Kardaras D, Aloizou AM, Liampas I, Papageorgiou E, Drakoulis N, et al. CYP1A2 rs762551 and ADORA2A rs5760423 polymorphisms in patients with blepharospasm. J Mol Neurosci. 2020.","DOI":"10.1007\/s12031-020-01553-4"},{"key":"5900_CR36","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.3389\/fneur.2019.01387","volume":"10","author":"H Dong","year":"2019","unstructured":"Dong H, Luo Y, Fan S, Yin B, Weng C, Peng B (2019) Screening gene mutations in Chinese patients with benign essential blepharospasm. Front Neurol 10:1387","journal-title":"Front Neurol"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-022-05900-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-022-05900-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-022-05900-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,19]],"date-time":"2022-05-19T23:47:40Z","timestamp":1653004060000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-022-05900-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,19]]},"references-count":36,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["5900"],"URL":"https:\/\/doi.org\/10.1007\/s10072-022-05900-8","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,19]]},"assertion":[{"value":"25 July 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 January 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 January 2022","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 study was approved by the Ethics Committee of the Institute of Clinical Pharmacology of Central South University, and written informed consent was obtained from all enrolled patients. All clinical investigations were conducted according to the latest version of the Declarations of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Written informed consent was collected from the patients for the inclusion of deidentified clinical data in a scientific publication, in accordance with the Declaration of Helsinki.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"All authors agreed with this final version.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}