{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T20:48:12Z","timestamp":1791060492644,"version":"4.1.0"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2010,3,24]],"date-time":"2010-03-24T00:00:00Z","timestamp":1269388800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Curr Neurol Neurosci Rep"],"published-print":{"date-parts":[[2010,5]]},"DOI":"10.1007\/s11910-010-0107-5","type":"journal-article","created":{"date-parts":[[2010,3,23]],"date-time":"2010-03-23T06:47:59Z","timestamp":1269326879000},"page":"199-206","source":"Crossref","is-referenced-by-count":28,"title":["Genetics of Primary Torsion Dystonia"],"prefix":"10.1007","volume":"10","author":[{"given":"Norbert","family":"Br\u00fcggemann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,3,24]]},"reference":[{"key":"107_CR1","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.1212\/WNL.54.9.1746","volume":"54","author":"SB Bressman","year":"2000","unstructured":"Bressman SB, Sabatti C, Raymond D, et al.: The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000, 54:1746\u20131752.","journal-title":"Neurology"},{"key":"107_CR2","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1111\/j.1468-1331.2006.01537.x","volume":"13","author":"A Albanese","year":"2006","unstructured":"Albanese A, Barnes MP, Bhatia KP, et al.: A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS\/MDS-ES Task Force. Eur J Neurol 2006, 13:433\u2013444.","journal-title":"Eur J Neurol"},{"key":"107_CR3","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1002\/mds.22314","volume":"24","author":"SA Schneider","year":"2009","unstructured":"Schneider SA, Bhatia KP, Hardy J: Complicated recessive dystonia parkinsonism syndromes. Mov Disord 2009, 24:490\u2013499.","journal-title":"Mov Disord"},{"key":"107_CR4","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/ng.304","volume":"41","author":"T Fuchs","year":"2009","unstructured":"Fuchs T, Gavarini S, Saunders-Pullman R, et al.: Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009, 41:286\u2013288. These authors discovered the gene responsible for DYT6 dystonia. Mutations in the THAP1 gene (chromosome 8) were shown to be associated with autosomal dominant, mixed-onset primary torsion dystonia.","journal-title":"Nat Genet"},{"key":"107_CR5","doi-asserted-by":"crossref","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, et al.: Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009, 8:441\u2013446.","journal-title":"Lancet Neurol"},{"key":"107_CR6","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/S1474-4422(09)70083-3","volume":"8","author":"A Djarmati","year":"2009","unstructured":"Djarmati A, Schneider SA, Lohmann K, et al.: Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009, 8:447\u2013452.","journal-title":"Lancet Neurol"},{"key":"107_CR7","doi-asserted-by":"crossref","first-page":"2424","DOI":"10.1002\/mds.22640","volume":"24","author":"M Bonetti","year":"2009","unstructured":"Bonetti M, Barzaghi C, Brancati F, et al.: Mutation screening of the DYT6\/THAP1 gene in Italy. Mov Disord 2009, 24:2424\u20132427.","journal-title":"Mov Disord"},{"key":"107_CR8","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1212\/01.wnl.0000275527.35752.c5","volume":"70","author":"C Wider","year":"2008","unstructured":"Wider C, Melquist S, Hauf M, et al.: Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. Neurology 2008, 70:1377\u20131383. The authors ruled out the previously reported DYT14 locus as the genetic cause of DRD and redefined DYT14 as DYT5.","journal-title":"Neurology"},{"key":"107_CR9","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/S1474-4422(08)70022-X","volume":"7","author":"S Camargos","year":"2008","unstructured":"Camargos S, Scholz S, Simon-Sanchez J, et al.: DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol 2008, 7:207\u2013215.","journal-title":"Lancet Neurol"},{"key":"107_CR10","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/S1474-4422(08)70023-1","volume":"7","author":"C Klein","year":"2008","unstructured":"Klein C: DYT16: a new twist to familial dystonia. Lancet Neurol 2008, 7:192\u2013193.","journal-title":"Lancet Neurol"},{"key":"107_CR11","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1016\/S1474-4422(08)70075-9","volume":"7","author":"P Seibler","year":"2008","unstructured":"Seibler P, Djarmati A, Langpap B, et al.: A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. Lancet Neurol 2008, 7:380\u2013381.","journal-title":"Lancet Neurol"},{"key":"107_CR12","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1007\/s10048-008-0142-4","volume":"9","author":"E Chouery","year":"2008","unstructured":"Chouery E, Kfoury J, Delague V, et al.: A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12. Neurogenetics 2008, 9:287\u2013293.","journal-title":"Neurogenetics"},{"key":"107_CR13","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1093\/brain\/awn113","volume":"131","author":"A Suls","year":"2008","unstructured":"Suls A, Dedeken P, Goffin K, et al.: Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008, 131:1831\u20131844. The authors detected segregating heterozygous missense and frameshift mutations in the SLC2A1 gene encoding the glucose transporter GLUT1 in patients with hereditary paroxysmal exercise-induced dyskinesia and epilepsy. The pathogenic role of the detected mutations has been confirmed by showing a reduced glucose uptake of mutated transporters in Xenopus oocytes.","journal-title":"Brain"},{"key":"107_CR14","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1172\/JCI34438","volume":"118","author":"YG Weber","year":"2008","unstructured":"Weber YG, Storch A, Wuttke TV, et al.: GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008, 118:2157\u20132168. The authors detected heterozygous SLC2A1 mutations in three families with hereditary paroxysmal exercise-induced dyskinesia and epilepsy. One of these families presented with hemolysis and harbored a small SLC2A1 deletion that resulted in decreased glucose transport and caused a cation leak that altered intracellular electrolyte concentration.","journal-title":"J Clin Invest"},{"key":"107_CR15","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1006\/geno.1996.0013","volume":"31","author":"G Auburger","year":"1996","unstructured":"Auburger G, Ratzlaff T, Lunkes A, et al.: A gene for autosomal dominant paroxysmal choreoathetosis\/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2\u00a0cM between D1S443 and D1S197. Genomics 1996, 31:90\u201394.","journal-title":"Genomics"},{"issue":"Pt 10","key":"107_CR16","doi-asserted-by":"crossref","first-page":"2040","DOI":"10.1093\/brain\/123.10.2040","volume":"123","author":"EM Valente","year":"2000","unstructured":"Valente EM, Spacey SD, Wali GM, et al.: A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 2000, 123(Pt 10):2040\u20132045.","journal-title":"Brain"},{"key":"107_CR17","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1212\/01.wnl.0000217332.51740.7c","volume":"66","author":"SD Spacey","year":"2006","unstructured":"Spacey SD, Adams PJ, Lam PC, et al.: Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. Neurology 2006, 66:1588\u20131590.","journal-title":"Neurology"},{"key":"107_CR18","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1038\/nrn2337","volume":"9","author":"XO Breakefield","year":"2008","unstructured":"Breakefield XO, Blood AJ, Li Y, et al.: The pathophysiological basis of dystonias. Nat Rev Neurosci 2008, 9:222\u2013234. The pathophysiologic basis for dystonias, with an emphasis on known monogenic forms, is summarized in this excellent review article.","journal-title":"Nat Rev Neurosci"},{"key":"107_CR19","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1093\/hmg\/ddl055","volume":"15","author":"N Kock","year":"2006","unstructured":"Kock N, Naismith TV, Boston HE, et al.: Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum Mol Genet 2006, 15:1355\u20131364.","journal-title":"Hum Mol Genet"},{"key":"107_CR20","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S0969-9961(02)00010-4","volume":"12","author":"K Rostasy","year":"2003","unstructured":"Rostasy K, Augood SJ, Hewett JW, et al.: TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis 2003, 12:11\u201324.","journal-title":"Neurobiol Dis"},{"key":"107_CR21","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1212\/WNL.58.1.120","volume":"58","author":"RH Walker","year":"2002","unstructured":"Walker RH, Brin MF, Sandu D, et al.: TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia. Neurology 2002, 58:120\u2013124.","journal-title":"Neurology"},{"key":"107_CR22","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1002\/ana.20225","volume":"56","author":"KS McNaught","year":"2004","unstructured":"McNaught KS, Kapustin A, Jackson T, et al.: Brainstem pathology in DYT1 primary torsion dystonia. Ann Neurol 2004, 56:540\u2013547.","journal-title":"Ann Neurol"},{"key":"107_CR23","doi-asserted-by":"crossref","first-page":"2261","DOI":"10.1212\/01.wnl.0000313838.05734.8a","volume":"70","author":"C Kamm","year":"2008","unstructured":"Kamm C, Fischer H, Garavaglia B, et al.: Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology 2008, 70:2261\u20132262.","journal-title":"Neurology"},{"key":"107_CR24","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1086\/518427","volume":"80","author":"NJ Risch","year":"2007","unstructured":"Risch NJ, Bressman SB, Senthil G, Ozelius LJ: Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 2007, 80:1188\u20131193. The authors demonstrate a protective effect of an intragenic SNP, D216H, in carriers of the DYT1 mutation.","journal-title":"Am J Hum Genet"},{"key":"107_CR25","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1002\/ana.410290315","volume":"29","author":"HM Waddy","year":"1991","unstructured":"Waddy HM, Fletcher NA, Harding AE, Marsden CD: A genetic study of idiopathic focal dystonias. Ann Neurol 1991, 29:320\u2013324.","journal-title":"Ann Neurol"},{"key":"107_CR26","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1212\/01.wnl.0000345670.63363.d1","volume":"72","author":"A Schmidt","year":"2009","unstructured":"Schmidt A, Jabusch HC, Altenmuller E, et al.: Etiology of musician\u2019s dystonia: familial or environmental? Neurology 2009, 72:1248\u20131254. Musician\u2019s dystonia, a classic focal task-specific dystonia, was shown to be influenced by genetic factors.","journal-title":"Neurology"},{"key":"107_CR27","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1111\/j.1468-1331.2009.02633.x","volume":"16","author":"D Martino","year":"2009","unstructured":"Martino D, Muglia M, Abbruzzese G, et al.: Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia. Eur J Neurol 2009, 16:949\u2013952.","journal-title":"Eur J Neurol"},{"key":"107_CR28","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1136\/jnnp.74.5.665","volume":"74","author":"F Brancati","year":"2003","unstructured":"Brancati F, Valente EM, Castori M, et al.: Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. J Neurol Neurosurg Psychiatry 2003, 74:665\u2013666.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"107_CR29","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1002\/mds.21182","volume":"22","author":"J Clarimon","year":"2007","unstructured":"Clarimon J, Brancati F, Peckham E, et al.: Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Mov Disord 2007, 22:162\u2013166.","journal-title":"Mov Disord"},{"key":"107_CR30","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1212\/01.WNL.0000090560.20641.AB","volume":"61","author":"D Sibbing","year":"2003","unstructured":"Sibbing D, Asmus F, Konig IR, et al.: Candidate gene studies in focal dystonia. Neurology 2003, 61:1097\u20131101.","journal-title":"Neurology"},{"key":"107_CR31","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1212\/WNL.0b013e3181a1861e","volume":"72","author":"N Bruggemann","year":"2009","unstructured":"Bruggemann N, Kock N, Lohmann K, et al.: The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases? Neurology 2009, 72:1441\u20131443.","journal-title":"Neurology"},{"key":"107_CR32","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1111\/j.1600-0404.2006.00663.x","volume":"114","author":"T Naiya","year":"2006","unstructured":"Naiya T, Biswas A, Neogi R, et al.: Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients. Acta Neurol Scand 2006, 114:210\u2013215.","journal-title":"Acta Neurol Scand"},{"key":"107_CR33","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.1212\/01.wnl.0000244423.63406.17","volume":"67","author":"C Kamm","year":"2006","unstructured":"Kamm C, Asmus F, Mueller J, et al.: Strong genetic evidence for association of TOR1A\/TOR1B with idiopathic dystonia. Neurology 2006, 67:1857\u20131859.","journal-title":"Neurology"},{"key":"107_CR34","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1002\/ana.20485","volume":"57","author":"J Clarimon","year":"2005","unstructured":"Clarimon J, Asgeirsson H, Singleton A, et al.: Torsin A haplotype predisposes to idiopathic dystonia. Ann Neurol 2005, 57:765\u2013767.","journal-title":"Ann Neurol"},{"key":"107_CR35","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1002\/mds.22471","volume":"24","author":"G Defazio","year":"2009","unstructured":"Defazio G, Matarin M, Peckham EL, et al.: The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Mov Disord 2009, 24:613\u2013616.","journal-title":"Mov Disord"},{"key":"107_CR36","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1111\/j.1468-1331.2009.02646.x","volume":"16","author":"HF Harbo","year":"2009","unstructured":"Harbo HF, Finsterer J, Baets J, et al.: EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington\u2019s disease, Parkinson\u2019s disease and dystonias. Eur J Neurol 2009, 16:777\u2013785.","journal-title":"Eur J Neurol"}],"container-title":["Current Neurology and Neuroscience Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11910-010-0107-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11910-010-0107-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11910-010-0107-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,6,3]],"date-time":"2020-06-03T06:51:41Z","timestamp":1591167101000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11910-010-0107-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3,24]]},"references-count":36,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,5]]}},"alternative-id":["107"],"URL":"https:\/\/doi.org\/10.1007\/s11910-010-0107-5","relation":{},"ISSN":["1528-4042","1534-6293"],"issn-type":[{"value":"1528-4042","type":"print"},{"value":"1534-6293","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,3,24]]}}}