{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T12:14:23Z","timestamp":1768997663965,"version":"3.49.0"},"reference-count":52,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T00:00:00Z","timestamp":1659571200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T00:00:00Z","timestamp":1659571200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/P008593\/1"],"award-info":[{"award-number":["MR\/P008593\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014013","name":"UK Research and Innovation","doi-asserted-by":"publisher","award":["MR\/T018712\/1"],"award-info":[{"award-number":["MR\/T018712\/1"]}],"id":[{"id":"10.13039\/100014013","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009575","name":"Jacques und Gloria Gossweiler-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009575","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Knowledge Economy Skills Scholarship"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The spectrum of non-motor symptoms in dystonia remains unclear. Using UK Biobank data, we analysed clinical phenotypic and genetic information in the largest dystonia cohort reported to date. Case\u2013control comparison of dystonia and matched control cohort was undertaken to identify domains (psychiatric, pain, sleep and cognition) of increased symptom burden in dystonia. Whole exome data were used to determine the rate and likely pathogenicity of variants in Mendelian inherited dystonia causing genes and linked to clinical data. Within the dystonia cohort, phenotypic and genetic single-nucleotide polymorphism (SNP) data were combined in a mixed model analysis to derive genetically informed phenotypic axes. A total of 1572 individuals with dystonia were identified, including cervical dystonia (<jats:italic>n<\/jats:italic>\u2009=\u2009775), blepharospasm (<jats:italic>n<\/jats:italic>\u2009=\u2009131), tremor (<jats:italic>n<\/jats:italic>\u2009=\u2009488) and dystonia, unspecified (<jats:italic>n<\/jats:italic>\u2009=\u2009154) groups. Phenotypic patterns highlighted a predominance of psychiatric symptoms (anxiety and depression), excess pain and sleep disturbance. Cognitive impairment was limited to prospective memory and fluid intelligence. Whole exome sequencing identified 798 loss of function variants in dystonia-linked genes, 67 missense variants (MPC\u2009&gt;\u20093) and 305 other forms of non-synonymous variants (including inframe deletion, inframe insertion, stop loss and start loss variants). A single loss of function variant (<jats:italic>ANO3<\/jats:italic>) was identified in the dystonia cohort. Combined SNP and clinical data identified multiple genetically informed phenotypic axes with predominance of psychiatric, pain and sleep non-motor domains. An excess of psychiatric, pain and sleep symptoms were evident across all forms of dystonia. Combination with genetic data highlights phenotypic subgroups consistent with the heterogeneity observed in clinical practice.<\/jats:p>","DOI":"10.1007\/s00415-022-11307-4","type":"journal-article","created":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T09:03:32Z","timestamp":1659603812000},"page":"6436-6451","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study"],"prefix":"10.1007","volume":"269","author":[{"given":"Megan E.","family":"Wadon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eilidh","family":"Fenner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberley M.","family":"Kendall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grace A.","family":"Bailey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia","family":"Sandor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elliott","family":"Rees","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4749-4944","authenticated-orcid":false,"given":"Kathryn J.","family":"Peall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,8,4]]},"reference":[{"key":"11307_CR1","doi-asserted-by":"publisher","first-page":"2897","DOI":"10.1007\/s00415-018-9119-x","volume":"266","author":"A Girach","year":"2019","unstructured":"Girach A, Vinagre Aragon A, Zis P (2019) Quality of life in idiopathic dystonia: a systematic review. J Neurol 266:2897\u20132906. https:\/\/doi.org\/10.1007\/s00415-018-9119-x","journal-title":"J Neurol"},{"key":"11307_CR2","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1002\/mds.25475","volume":"28","author":"A Albanese","year":"2013","unstructured":"Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VSC et al (2013) Phenomenology and classification of dystonia: a consensus update. Mov Disord 28:863\u2013873. https:\/\/doi.org\/10.1002\/mds.25475","journal-title":"Mov Disord"},{"key":"11307_CR3","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1002\/da.10039","volume":"16","author":"E Moraru","year":"2002","unstructured":"Moraru E, Schnider P, Wimmer A, Wenzel T, Birner P, Griengl H et al (2002) Relation between depression and anxiety in dystonic patients: implications for clinical management. Depress Anxiety 16:100\u2013103. https:\/\/doi.org\/10.1002\/da.10039","journal-title":"Depress Anxiety"},{"key":"11307_CR4","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1093\/brain\/aws308","volume":"136","author":"KJ Peall","year":"2013","unstructured":"Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T et al (2013) SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain 136:294\u2013303. https:\/\/doi.org\/10.1093\/brain\/aws308","journal-title":"Brain"},{"key":"11307_CR5","doi-asserted-by":"publisher","first-page":"2780","DOI":"10.1007\/s00415-019-09484-w","volume":"266","author":"G Ferrazzano","year":"2019","unstructured":"Ferrazzano G, Berardelli I, Conte A, Baione V, Concolato C, Belvisi D et al (2019) Motor and non-motor symptoms in blepharospasm: clinical and pathophysiological implications. J Neurol 266:2780\u20132785. https:\/\/doi.org\/10.1007\/s00415-019-09484-w","journal-title":"J Neurol"},{"key":"11307_CR6","doi-asserted-by":"publisher","first-page":"596","DOI":"10.7916\/fhnv-v355","volume":"9","author":"N Novaretti","year":"2019","unstructured":"Novaretti N, Cunha ALN, Bezerra TC, Pereira MAP, De Oliveira DS, Macruz Brito MMC et al (2019) The prevalence and correlation of non-motor symptoms in adult patients with idiopathic focal or segmental dystonia. Tremor Other Hyperkinet Mov 9:596. https:\/\/doi.org\/10.7916\/fhnv-v355","journal-title":"Tremor Other Hyperkinet Mov"},{"key":"11307_CR7","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1007\/s00415-002-0733-1","volume":"249","author":"J M\u00fcller","year":"2002","unstructured":"M\u00fcller J, Kemmler G, Wissel J, Schneider A, Voller B, Grossmann J et al (2002) The impact of blepharospasm and cervical dystonia on health-related quality of life and depression. J Neurol 249:842\u2013846. https:\/\/doi.org\/10.1007\/s00415-002-0733-1","journal-title":"J Neurol"},{"key":"11307_CR8","doi-asserted-by":"publisher","first-page":"1309","DOI":"10.1007\/s00415-014-7343-6","volume":"261","author":"PD Charles","year":"2014","unstructured":"Charles PD, Adler CH, Stacy M, Comella C, Jankovic J, Manack Adams A et al (2014) Cervical dystonia and pain: characteristics and treatment patterns from CD PROBE (Cervical Dystonia Patient Registry for Observation of OnabotulinumtoxinA Efficacy). J Neurol 261:1309\u20131319. https:\/\/doi.org\/10.1007\/s00415-014-7343-6","journal-title":"J Neurol"},{"key":"11307_CR9","doi-asserted-by":"publisher","DOI":"10.1016\/j.smrv.2015.04.004","author":"E Hertenstein","year":"2015","unstructured":"Hertenstein E, Tang NKY, Bernstein CJ, Nissen C, Underwood MR, Sandhu HK (2015) Sleep in patients with primary dystonia: a systematic review on the state of research and perspectives. Sleep Med Rev. https:\/\/doi.org\/10.1016\/j.smrv.2015.04.004","journal-title":"Sleep Med Rev"},{"key":"11307_CR10","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0209558","author":"Y Sun","year":"2018","unstructured":"Sun Y, Tsai P-J, Chu C-L, Huang W-C, Bee Y-S (2018) Epidemiology of benign essential blepharospasm: a nationwide population-based retrospective study in Taiwan. PLoS ONE. https:\/\/doi.org\/10.1371\/journal.pone.0209558","journal-title":"PLoS ONE"},{"key":"11307_CR11","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12459","author":"M Smit","year":"2017","unstructured":"Smit M, Kamphuis ASJ, Bartels AL, Han V, Stewart RE, Zijdewind I et al (2017) Fatigue, sleep disturbances, and their influence on quality of life in cervical dystonia patients. Mov Disord Clin Pract. https:\/\/doi.org\/10.1002\/mdc3.12459","journal-title":"Mov Disord Clin Pract"},{"key":"11307_CR12","doi-asserted-by":"publisher","DOI":"10.1093\/sleep\/zsx088","author":"E Antelmi","year":"2017","unstructured":"Antelmi E, Ferri R, Provini F, Scaglione CML, Mignani F, Rundo F et al (2017) Modulation of the muscle activity during sleep in cervical dystonia. Sleep. https:\/\/doi.org\/10.1093\/sleep\/zsx088","journal-title":"Sleep"},{"key":"11307_CR13","doi-asserted-by":"crossref","unstructured":"Feuerstein J, Holden S, Sillau S, Berman B (2020) Social cognition is abnormal in cervical dystonia but not blepharospasm (5224). Neurology 94","DOI":"10.1212\/WNL.94.15_supplement.5224"},{"key":"11307_CR14","doi-asserted-by":"publisher","first-page":"100084","DOI":"10.1016\/j.prdoa.2020.100084","volume":"4","author":"R Monaghan","year":"2021","unstructured":"Monaghan R, Cogley C, Burke T, McCormack D, O\u2019Riordan S, Ndukwe I et al (2021) Non-motor features of cervical dystonia: cognition, social cognition, psychological distress and quality of life. Clin Park Relat Disord 4:100084. https:\/\/doi.org\/10.1016\/j.prdoa.2020.100084","journal-title":"Clin Park Relat Disord"},{"key":"11307_CR15","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1007\/s00702-017-1725-8","volume":"124","author":"K Czek\u00f3ov\u00e1","year":"2017","unstructured":"Czek\u00f3ov\u00e1 K, Zem\u00e1nkov\u00e1 P, Shaw DJ, Bare\u0161 M (2017) Social cognition and idiopathic isolated cervical dystonia. J Neural Transm 124:1097\u20131104. https:\/\/doi.org\/10.1007\/s00702-017-1725-8","journal-title":"J Neural Transm"},{"key":"11307_CR16","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2019.06.027","author":"G Maggi","year":"2019","unstructured":"Maggi G, D\u2019Iorio A, Mautone G, Peluso S, Manganelli F, Dubbioso R et al (2019) Cognitive correlates of prospective memory in dystonia. Park Relat Disord. https:\/\/doi.org\/10.1016\/j.parkreldis.2019.06.027","journal-title":"Park Relat Disord"},{"key":"11307_CR17","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1590\/S0004-282X2009000100004","volume":"67","author":"FMV Dias","year":"2009","unstructured":"Dias FMV, Doyle FCP, Kummer A, Cardoso F, Caramelli P, Teixeira AL (2009) Executive functioning in patients with blepharospasm in comparison with patients with hemifacial spasm. Arq Neuropsiquiatr 67:12\u201315. https:\/\/doi.org\/10.1590\/S0004-282X2009000100004","journal-title":"Arq Neuropsiquiatr"},{"key":"11307_CR18","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22736","author":"GG Alem\u00e1n","year":"2009","unstructured":"Alem\u00e1n GG, De Erausquin GA, Micheli F (2009) Cognitive disturbances in primary blepharospasm. Mov Disord. https:\/\/doi.org\/10.1002\/mds.22736","journal-title":"Mov Disord"},{"key":"11307_CR19","doi-asserted-by":"publisher","first-page":"1046","DOI":"10.1136\/jnnp-2020-323646","volume":"91","author":"BM Jacobs","year":"2020","unstructured":"Jacobs BM, Belete D, Bestwick J, Blauwendraat C, Bandres-Ciga S, Heilbron K et al (2020) Parkinson\u2019s disease determinants, prediction and gene-environment interactions in the UK Biobank. J Neurol Neurosurg Psychiatry 91:1046\u20131054. https:\/\/doi.org\/10.1136\/jnnp-2020-323646","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"11307_CR20","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1111\/ENE.15114","volume":"29","author":"GA Bailey","year":"2022","unstructured":"Bailey GA, Rawlings A, Torabi F, Pickrell O, Peall KJ (2022) Adult-onset idiopathic dystonia: a national data-linkage study to determine epidemiological, social deprivation, and mortality characteristics. Eur J Neurol 29:91\u2013104. https:\/\/doi.org\/10.1111\/ENE.15114","journal-title":"Eur J Neurol"},{"key":"11307_CR21","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1038\/s41586-018-0579-z","volume":"562","author":"C Bycroft","year":"2018","unstructured":"Bycroft C, Freeman C, Petkova D, Band G, Elliott LT, Sharp K et al (2018) The UK Biobank resource with deep phenotyping and genomic data. Nature 562:203\u2013209. https:\/\/doi.org\/10.1038\/s41586-018-0579-z","journal-title":"Nature"},{"key":"11307_CR22","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1093\/ije\/dym276","volume":"37","author":"P Elliott","year":"2008","unstructured":"Elliott P, Peakman TC (2008) The UK Biobank sample handling and storage protocol for the collection, processing and archiving of human blood and urine. Int J Epidemiol 37:234\u2013244. https:\/\/doi.org\/10.1093\/ije\/dym276","journal-title":"Int J Epidemiol"},{"key":"11307_CR23","doi-asserted-by":"publisher","DOI":"10.1192\/bjo.2020.145","author":"KP Glanville","year":"2021","unstructured":"Glanville KP, Coleman JRI, Howard DM, Pain O, Hanscombe KB, Jermy B et al (2021) Multiple measures of depression to enhance validity of major depressive disorder in the UK Biobank. BJPsych Open. https:\/\/doi.org\/10.1192\/bjo.2020.145","journal-title":"BJPsych Open"},{"key":"11307_CR24","doi-asserted-by":"publisher","first-page":"1264","DOI":"10.1002\/ejp.1747","volume":"25","author":"AP Carvalho-e-Silva","year":"2021","unstructured":"Carvalho-e-Silva AP, Harmer AR, Ferreira ML, Ferreira PH (2021) The effect of the anti-diabetic drug metformin on musculoskeletal pain: a cross-sectional study with 21,889 individuals from the UK biobank. Eur J Pain (United Kingdom) 25:1264\u20131273. https:\/\/doi.org\/10.1002\/ejp.1747","journal-title":"Eur J Pain (United Kingdom)"},{"key":"11307_CR25","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.1093\/hmg\/ddaa058","volume":"29","author":"W Meng","year":"2020","unstructured":"Meng W, Chan BW, Harris C, Freidin MB, Hebert HL, Adams MJ et al (2020) A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank. Hum Mol Genet 29:1396\u20131404. https:\/\/doi.org\/10.1093\/hmg\/ddaa058","journal-title":"Hum Mol Genet"},{"key":"11307_CR26","doi-asserted-by":"publisher","first-page":"1182","DOI":"10.1093\/eurheartj\/ehz849","volume":"41","author":"M Fan","year":"2020","unstructured":"Fan M, Sun D, Zhou T, Heianza Y, Lv J, Li L et al (2020) Sleep patterns, genetic susceptibility, and incident cardiovascular disease: a prospective study of 385,292 UK biobank participants. Eur Heart J 41:1182\u20131189. https:\/\/doi.org\/10.1093\/eurheartj\/ehz849","journal-title":"Eur Heart J"},{"key":"11307_CR27","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.sleep.2017.07.001","volume":"38","author":"SD Kyle","year":"2017","unstructured":"Kyle SD, Sexton CE, Feige B, Luik AI, Lane J, Saxena R et al (2017) Sleep and cognitive performance: cross-sectional associations in the UK Biobank. Sleep Med 38:85\u201391. https:\/\/doi.org\/10.1016\/j.sleep.2017.07.001","journal-title":"Sleep Med"},{"key":"11307_CR28","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0231627","author":"C Fawns-Ritchie","year":"2020","unstructured":"Fawns-Ritchie C, Deary IJ (2020) Reliability and validity of the UK Biobank cognitive tests. PLoS ONE. https:\/\/doi.org\/10.1371\/journal.pone.0231627","journal-title":"PLoS ONE"},{"key":"11307_CR29","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1038\/s41586-020-2853-0","volume":"586","author":"CV Van Hout","year":"2020","unstructured":"Van Hout CV, Tachmazidou I, Backman JD, Hoffman JD, Liu D, Pandey AK et al (2020) Exome sequencing and characterization of 49,960 individuals in the UK Biobank. Nature 586:749. https:\/\/doi.org\/10.1038\/s41586-020-2853-0","journal-title":"Nature"},{"key":"11307_CR30","unstructured":"The Hail Team (2008) Hail. https:\/\/github.com\/hail-is\/hail"},{"key":"11307_CR31","doi-asserted-by":"publisher","DOI":"10.1186\/S13059-016-0974-4","author":"W McLaren","year":"2016","unstructured":"McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GRS, Thormann A et al (2016) The ensembl variant effect predictor. Genome Biol. https:\/\/doi.org\/10.1186\/S13059-016-0974-4","journal-title":"Genome Biol"},{"key":"11307_CR32","doi-asserted-by":"publisher","first-page":"2771","DOI":"10.1093\/BRAIN\/AWAA217","volume":"143","author":"NE Mencacci","year":"2020","unstructured":"Mencacci NE, Reynolds R, Ruiz SG, Vandrovcova J, Forabosco P, S\u00e1nchez-Ferrer A et al (2020) Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders. Brain 143:2771\u20132787. https:\/\/doi.org\/10.1093\/BRAIN\/AWAA217","journal-title":"Brain"},{"key":"11307_CR33","doi-asserted-by":"publisher","DOI":"10.1101\/148353","author":"KE Samocha","year":"2017","unstructured":"Samocha KE, Kosmicki JA, Karczewski KJ, O\u2019Donnell-Luria AH, Pierce-Hoffman E, MacArthur DG et al (2017) Regional missense constraint improves variant deleteriousness prediction. BioRxiv. https:\/\/doi.org\/10.1101\/148353","journal-title":"BioRxiv"},{"key":"11307_CR34","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1038\/ng.2310","volume":"44","author":"X Zhou","year":"2012","unstructured":"Zhou X, Stephens M (2012) Genome-wide efficient mixed-model analysis for association studies. Nat Genet 44:821\u2013824. https:\/\/doi.org\/10.1038\/ng.2310","journal-title":"Nat Genet"},{"key":"11307_CR35","doi-asserted-by":"publisher","first-page":"1003264","DOI":"10.1371\/journal.pgen.1003264","volume":"9","author":"X Zhou","year":"2013","unstructured":"Zhou X, Carbonetto P, Stephens M (2013) Polygenic modeling with Bayesian sparse linear mixed models. PLoS Genet 9:1003264. https:\/\/doi.org\/10.1371\/journal.pgen.1003264","journal-title":"PLoS Genet"},{"key":"11307_CR36","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1038\/nmeth.2848","volume":"11","author":"X Zhou","year":"2014","unstructured":"Zhou X, Stephens M (2014) Efficient multivariate linear mixed model algorithms for genome-wide association studies. Nat Methods 11:407\u2013409. https:\/\/doi.org\/10.1038\/nmeth.2848","journal-title":"Nat Methods"},{"key":"11307_CR37","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1038\/ng.3513","volume":"48","author":"A Dahl","year":"2016","unstructured":"Dahl A, Iotchkova V, Baud A, Johansson S, Gyllensten U, Soranzo N et al (2016) A multiple-phenotype imputation method for genetic studies. Nat Genet 48:466\u2013472. https:\/\/doi.org\/10.1038\/ng.3513","journal-title":"Nat Genet"},{"key":"11307_CR38","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1016\/S2213-8587(19)30059-2","volume":"7","author":"OE Okosieme","year":"2019","unstructured":"Okosieme OE, Taylor PN, Evans C, Thayer D, Chai A, Khan I et al (2019) Primary therapy of Graves\u2019 disease and cardiovascular morbidity and mortality: a linked-record cohort study. Lancet Diabetes Endocrinol 7:278\u2013287. https:\/\/doi.org\/10.1016\/S2213-8587(19)30059-2","journal-title":"Lancet Diabetes Endocrinol"},{"key":"11307_CR39","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2016-315461","author":"BD Berman","year":"2017","unstructured":"Berman BD, Junker J, Shelton E, Sillau SH, Jinnah HA, Perlmutter JS et al (2017) Psychiatric associations of adult-onset focal dystonia phenotypes. J Neurol Neurosurg Psychiatry. https:\/\/doi.org\/10.1136\/jnnp-2016-315461","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"11307_CR40","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14508","author":"B Ellement","year":"2020","unstructured":"Ellement B, Jasaui Y, Kathol K, Nosratmirshekarlou E, Pringsheim T, Sarna J et al (2020) Social cognition in cervical dystonia: phenotype and relationship to anxiety and depression. Eur J Neurol. https:\/\/doi.org\/10.1111\/ene.14508","journal-title":"Eur J Neurol"},{"key":"11307_CR41","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.592","author":"J Yang","year":"2017","unstructured":"Yang J, Shao N, Song W, Wei Q, Ou R, Wu Y et al (2017) Nonmotor symptoms in primary adult-onset cervical dystonia and blepharospasm. Brain Behav. https:\/\/doi.org\/10.1002\/brb3.592","journal-title":"Brain Behav"},{"key":"11307_CR42","doi-asserted-by":"publisher","first-page":"970","DOI":"10.1007\/s00415-018-8840-9","volume":"265","author":"A Mahajan","year":"2018","unstructured":"Mahajan A, Jankovic J, Marsh L, Patel A, Jinnah HA, Comella C et al (2018) Cervical dystonia and substance abuse. J Neurol 265:970\u2013975. https:\/\/doi.org\/10.1007\/s00415-018-8840-9","journal-title":"J Neurol"},{"key":"11307_CR43","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1016\/j.parkreldis.2019.06.009","volume":"65","author":"M Tinazzi","year":"2019","unstructured":"Tinazzi M, Squintani GM, Bhatia KP, Segatti A, Donato F, Valeriani M et al (2019) Pain in cervical dystonia: evidence of abnormal inhibitory control. Park Relat Disord 65:252\u2013255. https:\/\/doi.org\/10.1016\/j.parkreldis.2019.06.009","journal-title":"Park Relat Disord"},{"key":"11307_CR44","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/s41782-021-00144-6","volume":"5","author":"S Ray","year":"2021","unstructured":"Ray S, Kumar G, Kutty B, Pramod Pal K, Yadav R (2021) Patients with primary cervical dystonia have significant sleep impairment and polysomnographic abnormalities. Sleep Vigil 5:119\u2013126. https:\/\/doi.org\/10.1007\/s41782-021-00144-6","journal-title":"Sleep Vigil"},{"key":"11307_CR45","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1016\/j.parkreldis.2013.10.008","volume":"20","author":"R Romano","year":"2014","unstructured":"Romano R, Bertolino A, Gigante A, Martino D, Livrea P, Defazio G (2014) Impaired cognitive functions in adult-onset primary cranial cervical dystonia. Park Relat Disord 20:162\u2013165. https:\/\/doi.org\/10.1016\/j.parkreldis.2013.10.008","journal-title":"Park Relat Disord"},{"key":"11307_CR46","doi-asserted-by":"publisher","first-page":"1348","DOI":"10.1002\/mds.27048","volume":"32","author":"M Jahanshahi","year":"2017","unstructured":"Jahanshahi M, Torkamani M (2017) The cognitive features of idiopathic and DYT1 dystonia. Mov Disord 32:1348\u20131355. https:\/\/doi.org\/10.1002\/mds.27048","journal-title":"Mov Disord"},{"key":"11307_CR47","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1016\/S1474-4422(20)30312-4","volume":"19","author":"M Zech","year":"2020","unstructured":"Zech M, Jech R, Boesch S, \u0160korv\u00e1nek M, Weber S, Wagner M et al (2020) Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 19:908\u2013918. https:\/\/doi.org\/10.1016\/S1474-4422(20)30312-4","journal-title":"Lancet Neurol"},{"key":"11307_CR48","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-017-13841-y","volume":"7","author":"RJ Pengelly","year":"2017","unstructured":"Pengelly RJ, Alom T, Zhang Z, Hunt D, Ennis S, Collins A (2017) Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting. Sci Rep 7:1\u20137. https:\/\/doi.org\/10.1038\/s41598-017-13841-y","journal-title":"Sci Rep"},{"key":"11307_CR49","doi-asserted-by":"publisher","DOI":"10.1002\/BRB3.2292","author":"ME Wadon","year":"2021","unstructured":"Wadon ME, Bailey GA, Yilmaz Z, Hubbard E, AlSaeed M, Robinson A et al (2021) Non-motor phenotypic subgroups in adult-onset idiopathic, isolated, focal cervical dystonia. Brain Behav. https:\/\/doi.org\/10.1002\/BRB3.2292","journal-title":"Brain Behav"},{"key":"11307_CR50","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2016.06.004","author":"M Smit","year":"2016","unstructured":"Smit M, Kuiper A, Han V, Jiawan VCR, Douma G, van Harten B et al (2016) Psychiatric co-morbidity is highly prevalent in idiopathic cervical dystonia and significantly influences health-related quality of life: results of a controlled study. Park Relat Disord. https:\/\/doi.org\/10.1016\/j.parkreldis.2016.06.004","journal-title":"Park Relat Disord"},{"key":"11307_CR51","doi-asserted-by":"publisher","first-page":"2795","DOI":"10.1002\/mds.28732","volume":"36","author":"YV Sun","year":"2021","unstructured":"Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R et al (2021) A multi-center genome-wide association study of cervical dystonia. Mov Disord 36:2795\u20132801. https:\/\/doi.org\/10.1002\/mds.28732","journal-title":"Mov Disord"},{"key":"11307_CR52","doi-asserted-by":"publisher","first-page":"1026","DOI":"10.1093\/aje\/kwx246","volume":"186","author":"A Fry","year":"2017","unstructured":"Fry A, Littlejohns TJ, Sudlow C et al (2017) Comparison of sociodemographic and health-related characteristics if UK Biobank participants with those of the general population. Am J Epidemiol 186:1026\u20131034. https:\/\/doi.org\/10.1093\/aje\/kwx246","journal-title":"Am J Epidemiol"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-022-11307-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-022-11307-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-022-11307-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T18:26:15Z","timestamp":1727720775000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-022-11307-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,4]]},"references-count":52,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["11307"],"URL":"https:\/\/doi.org\/10.1007\/s00415-022-11307-4","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,4]]},"assertion":[{"value":"28 June 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 July 2022","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 July 2022","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 August 2022","order":4,"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 conflict of interests. The authors have no relevant financial or non-financial interests to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"UKBB is approved by the Research Ethics Committee (reference 16\/NW\/0274), with data released to Cardiff University following application (study application code: 13310). The procedures used in this study adhere to the tenets of the Declaration of Helsinki.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all individual participants as part of the UKBB Study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}}]}}