{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T05:20:46Z","timestamp":1791264046598,"version":"4.1.0"},"reference-count":93,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2017,12,8]],"date-time":"2017-12-08T00:00:00Z","timestamp":1512691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DC011805"],"award-info":[{"award-number":["R01DC011805"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DC012545"],"award-info":[{"award-number":["R01DC012545"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01NS088160"],"award-info":[{"award-number":["R01NS088160"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Laryngeal dystonia (LD) is a functionally specific disorder of the afferent\u2013efferent motor coordination system producing action\u2010induced muscle contraction with a varied phenomenology. This report of long\u2010term studies aims to review and better define the phenomenology and central nervous system abnormalities of this disorder and improve diagnosis and treatment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Our studies categorized over 1,400 patients diagnosed with LD over the past 33 years, including demographic and medical history records and their phenomenological presentations.<\/jats:p>\n                    <jats:p>Patients were grouped on clinical phenotype (adductor or abductor) and genotype (sporadic and familial) and with DNA analysis and functional magnetic resonance imaging (fMRI) to investigate brain organization differences and characterize neural markers for genotype\/phenotype categorization. A number of patients with alcohol\u2010sensitive dystonia were also studied.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A spectrum of LD phenomena evolved: adductor, abductor, mixed, singer's, dystonic tremor, and adductor respiratory dystonia. Patients were genetically screened for DYT (dystonia) 1, DYT4, DYT6, and DYT25 (GNAL)\u2013and several were positive. The functional MRI studies showed distinct alterations within the sensorimotor network, and the LD patients with a family history had distinct cortical and cerebellar abnormalities. A linear discriminant analysis of fMRI findings showed a 71% accuracy in characterizing LD from normal and in characterizing adductor from abductor forms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Continuous studies of LD patients over 30 years has led to an improved understanding of the phenomenological characteristics of this neurological disorder. Genetic and fMRI studies have better characterized the disorder and raise the possibility of making objective rather than subjective diagnoses, potentially leading to new therapeutic approaches.\n                      <jats:italic>Laryngoscope<\/jats:italic>\n                      , 128:S1\u2013S9, 2018\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/lary.27003","type":"journal-article","created":{"date-parts":[[2017,12,8]],"date-time":"2017-12-08T06:42:53Z","timestamp":1512715373000},"source":"Crossref","is-referenced-by-count":62,"title":["Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30\u2010year experience"],"prefix":"10.1002","volume":"128","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0343-7414","authenticated-orcid":false,"given":"Andrew","family":"Blitzer","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery Columbia University, College of Physicians and Surgeons New York New York"},{"name":"Department of Neurology Icahn School of Medicine at Mt. Sinai New York New York"},{"name":"New York Center for Voice and Swallowing Disorders New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitchell F.","family":"Brin","sequence":"additional","affiliation":[{"name":"Department of Neurology the University of California, Irvine Irvine California"},{"name":"Allergan, PLC Dublin Republic of Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7444-0437","authenticated-orcid":false,"given":"Kristina","family":"Simonyan","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Massachusetts Eye and Ear Infirmary, Harvard Medical School Boston Massachusetts"},{"name":"Department of Neurology Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie J.","family":"Ozelius","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J.","family":"Frucht","sequence":"additional","affiliation":[{"name":"Department of Neurology Icahn School of Medicine at Mt. Sinai New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,8]]},"reference":[{"key":"e_1_2_3_2_1","first-page":"674","volume-title":"Gesammelte Beitrage zur Pathologie und Physiologie","author":"Traube L","year":"1871"},{"key":"e_1_2_3_3_1","first-page":"215","volume-title":"Klinischer Atlas der Laryngologie. Nebst Anleitung zur Diagnose und Therapie der Krankheiten des Kehlkopfes und der Luftrohre","author":"Schnitzler J","year":"1895"},{"key":"e_1_2_3_4_1","volume-title":"Ueber Beschaeftigungsneurosen der Stimme","author":"Fraenkel B","year":"1887"},{"key":"e_1_2_3_5_1","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1055\/s-0029-1197463","article-title":"Ueber die Beschaeftigungsschwaeche der Stimme: mogiphonie","volume":"13","author":"Fraenkel B","year":"1887","journal-title":"Dtsch Med Wochenschr"},{"key":"e_1_2_3_6_1","first-page":"200","volume-title":"Manual of Diseases of the Nervous System","author":"Gowers WR","year":"1899"},{"key":"e_1_2_3_7_1","volume-title":"Nothnagels spezielle pathologie und therapie","author":"Gerhardt P","year":"1896"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/62.1.96"},{"key":"e_1_2_3_9_1","first-page":"1","article-title":"Le disfonie impercinetiche","volume":"3","author":"Bellussi G","year":"1952","journal-title":"Atti Labor Fonet Univ Padova"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1044\/jshd.3303.219"},{"key":"e_1_2_3_11_1","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1212\/WNL.30.4.349","article-title":"Spastic dysphonia and Meige disease","volume":"30","author":"Jacome DE","year":"1980","journal-title":"Neurology"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.10.1202"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348948509400614"},{"key":"e_1_2_3_14_1","first-page":"39","volume-title":"Symposium on Spastic Dysphonia: State of the Art","author":"Blitzer A","year":"1985"},{"key":"e_1_2_3_15_1","first-page":"52","article-title":"Clinical Voice Disorders","author":"Aronson AE","year":"1985","journal-title":"New York, NY: Thieme;"},{"key":"e_1_2_3_16_1","volume-title":"Neurological Disorders of the Larynx","author":"Brin MF","year":"2009"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25475"},{"key":"e_1_2_3_18_1","first-page":"187","article-title":"Vocal tract electromyographic abnormalities in spasmodic dysphonia preliminary report","volume":"108","author":"Schaefer S","year":"1987","journal-title":"Trans Am Laryngol Assoc"},{"key":"e_1_2_3_19_1","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/B978-0-12-089445-1.50028-X","volume-title":"Motor Disturbances II","author":"Ludlow CL","year":"1990"},{"key":"e_1_2_3_20_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0407-13.2013"},{"key":"e_1_2_3_21_1","doi-asserted-by":"publisher","DOI":"10.1177\/0003489415588557"},{"key":"e_1_2_3_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-199810000-00003"},{"key":"e_1_2_3_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2010.03047.x"},{"key":"e_1_2_3_24_1","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-198802000-00015"},{"issue":"1","key":"e_1_2_3_25_1","first-page":"129","article-title":"LaryngeaDystonia (LD) at the Dystonia Clinical Research Center (DCRC): clinical and electromyographic features in 110 cases","author":"Brin MF","year":"1988","journal-title":"Neurology"},{"key":"e_1_2_3_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7751-2"},{"issue":"1","key":"e_1_2_3_27_1","first-page":"142","article-title":"Genetic factors in spastic dysphonia","volume":"40","author":"Leon D","year":"1990","journal-title":"Neurology"},{"key":"e_1_2_3_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0892-1997(97)80029-X"},{"key":"e_1_2_3_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.22168"},{"key":"e_1_2_3_30_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348940611500201"},{"key":"e_1_2_3_31_1","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-199401000-00007"},{"key":"e_1_2_3_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9924(81)90037-X"},{"key":"e_1_2_3_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.26655"},{"key":"e_1_2_3_34_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348940311201002"},{"key":"e_1_2_3_35_1","first-page":"1300","article-title":"Botulinum toxin (BOTOX) for the treatment of \u201cspastic dysphonia\u201d as part of a trial of toxin injections for the treatment of other cranial dystonias","volume":"96","author":"Blitzer A","year":"1986","journal-title":"Laryngoscope"},{"key":"e_1_2_3_36_1","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-198802000-00015"},{"key":"e_1_2_3_37_1","first-page":"734","article-title":"Botulinum toxin injection of eye muscles to correct strabismus","volume":"79","author":"Scott AG","year":"1981","journal-title":"Trans Am Ophthal Soc"},{"key":"e_1_2_3_38_1","first-page":"6","volume-title":"Botulinum Toxin","author":"Brin MF","year":"2013"},{"key":"e_1_2_3_39_1","volume-title":"Neurological Disorders of the Larynx","author":"Sulica L","year":"2009"},{"key":"e_1_2_3_40_1","first-page":"214","volume-title":"Neurological Disorders of the Larynx","author":"Brin MF","year":"1992"},{"key":"e_1_2_3_41_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.82.6.1692"},{"key":"e_1_2_3_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1994.tb26614.x"},{"key":"e_1_2_3_43_1","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.1999.0377"},{"key":"e_1_2_3_44_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.112.16.2715"},{"key":"e_1_2_3_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1993.tb06171.x"},{"key":"e_1_2_3_46_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016489309135834"},{"key":"e_1_2_3_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199604)19:4<488::AID-MUS9>3.0.CO;2-8"},{"key":"e_1_2_3_48_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.6.3200"},{"key":"e_1_2_3_49_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.5.977"},{"key":"e_1_2_3_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200007)48:1<20::AID-ANA5>3.0.CO;2-U"},{"key":"e_1_2_3_51_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348940010900215"},{"key":"e_1_2_3_52_1","doi-asserted-by":"publisher","DOI":"10.1044\/1092-4388(2006\/081)"},{"key":"e_1_2_3_53_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000184478.59063.db"},{"key":"e_1_2_3_54_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.9.1332"},{"key":"e_1_2_3_55_1","first-page":"8","article-title":"American Academy of Otolaryngology\u2014Head and Neck Surgery Policy Statement: Botox for spasmodic dysphoria","volume":"9","author":"AAO\u2013HNS","year":"1990","journal-title":"AAO\u2013HNS Bulletin"},{"key":"e_1_2_3_56_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1991.00530240100030"},{"key":"e_1_2_3_57_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000311389.26145.95"},{"key":"e_1_2_3_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.26265"},{"key":"e_1_2_3_59_1","doi-asserted-by":"publisher","DOI":"10.1097\/MLG.0b013e318124a97b"},{"key":"e_1_2_3_60_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348940411300802"},{"key":"e_1_2_3_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.21395"},{"key":"e_1_2_3_62_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348949110000201"},{"issue":"1","key":"e_1_2_3_63_1","first-page":"244","article-title":"Adductor laryngeal dystonia: treatment with local injections of botulinum toxin (BOTOX)","author":"Brin MF","year":"1988","journal-title":"Neurology"},{"key":"e_1_2_3_64_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870040401"},{"key":"e_1_2_3_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.25551"},{"key":"e_1_2_3_66_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348940311200603"},{"key":"e_1_2_3_67_1","first-page":"206","article-title":"Botulinum toxin therapy for recurrent laryngeal nerve section failure for adductor laryngeal dystonia","volume":"110","author":"Blitzer A","year":"1989","journal-title":"Trans Am Laryngol Assoc"},{"key":"e_1_2_3_68_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.otohns.2005.09.008"},{"key":"e_1_2_3_69_1","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-199202000-00011"},{"issue":"1","key":"e_1_2_3_70_1","first-page":"381","article-title":"Botulinum toxin: now for abductor laryngeal dystonia","volume":"40","author":"Brin MF","year":"1990","journal-title":"Neurology"},{"key":"e_1_2_3_71_1","first-page":"147","volume-title":"Voice Disorders","author":"Blitzer A","year":"1992"},{"key":"e_1_2_3_72_1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/S1043-1810(10)80191-5","article-title":"Botulinum toxin in the management of adductor and abductor spasmodic dysphonia","volume":"4","author":"Blitzer A","year":"1993","journal-title":"Oper Tech Otolayngol Head Neck Surg"},{"key":"e_1_2_3_73_1","first-page":"451","volume-title":"Therapy with Botulinum Toxin","author":"Blitzer A","year":"1994"},{"key":"e_1_2_3_74_1","doi-asserted-by":"publisher","DOI":"10.1177\/0194599816644708"},{"key":"e_1_2_3_75_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12650"},{"key":"e_1_2_3_76_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-40"},{"key":"e_1_2_3_77_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420421"},{"key":"e_1_2_3_78_1","first-page":"10","article-title":"High\u2010throughput mutational analysis of TOR1A in primary dystonia","volume":"11","author":"Xiao J","year":"2009","journal-title":"BMC Med Genet"},{"key":"e_1_2_3_79_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000294"},{"key":"e_1_2_3_80_1","first-page":"469","article-title":"Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6","volume":"127","author":"Xiao J","year":"2010","journal-title":"Hum Genet"},{"key":"e_1_2_3_81_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26502"},{"key":"e_1_2_3_82_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12151"},{"key":"e_1_2_3_83_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000161847.46465.B9"},{"key":"e_1_2_3_84_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.12.2290"},{"key":"e_1_2_3_85_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm303"},{"key":"e_1_2_3_86_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl355"},{"key":"e_1_2_3_87_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13067"},{"key":"e_1_2_3_88_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhq023"},{"key":"e_1_2_3_89_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000266591.49624.1a"},{"key":"e_1_2_3_90_1","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.nicl.2015.10.016","article-title":"Neural correlates of abnormal sensory discrimination in laryngeal dystonia","volume":"19","author":"Termsarasab P","year":"2016","journal-title":"Neuroimage Clin"},{"key":"e_1_2_3_91_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11682-016-9513-x"},{"key":"e_1_2_3_92_1","article-title":"Long\u2010term effect of sodium oxybate (Xyrem) in spasmodic dysphonia with vocal tremor","volume":"3","author":"Simonyan K","year":"2013","journal-title":"Tremor Other Hyperkinet Mov (N Y)"},{"key":"e_1_2_3_93_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.26381"},{"key":"e_1_2_3_94_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40261-013-0158-x"}],"container-title":["The Laryngoscope"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Flary.27003","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/lary.27003","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T05:22:46Z","timestamp":1695964966000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/lary.27003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,8]]},"references-count":93,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/lary.27003"],"URL":"https:\/\/doi.org\/10.1002\/lary.27003","archive":["Portico"],"relation":{},"ISSN":["0023-852X","1531-4995"],"issn-type":[{"value":"0023-852X","type":"print"},{"value":"1531-4995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,8]]}}}