{"id":"https://openalex.org/W2142534945","doi":"https://doi.org/10.1001/archneur.60.4.618","title":"Dopa-Responsive Dystonia and Tourette Syndrome in a Large Danish Family","display_name":"Dopa-Responsive Dystonia and Tourette Syndrome in a Large Danish Family","publication_year":2003,"publication_date":"2003-04-01","ids":{"openalex":"https://openalex.org/W2142534945","doi":"https://doi.org/10.1001/archneur.60.4.618","mag":"2142534945","pmid":"https://pubmed.ncbi.nlm.nih.gov/12707079"},"language":"en","primary_location":{"id":"doi:10.1001/archneur.60.4.618","doi":"https://doi.org/10.1001/archneur.60.4.618","is_oa":false,"landing_page_url":"https://doi.org/10.1001/archneur.60.4.618","pdf_url":null,"source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5073158092","display_name":"Anne Romstad","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210094934","display_name":"Kennedy Center","ror":"https://ror.org/00kzzgw26","country_code":"DK","type":"healthcare","lineage":["https://openalex.org/I2802567020","https://openalex.org/I4210094934"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Anne Romstad","raw_affiliation_strings":["Department of Biochemistry, John F. Kennedy Institute, Glostrup, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, John F. Kennedy Institute, Glostrup, Denmark","institution_ids":["https://openalex.org/I4210094934"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108512863","display_name":"Erik Dupont","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204337017","display_name":"Aarhus University","ror":"https://ror.org/01aj84f44","country_code":"DK","type":"education","lineage":["https://openalex.org/I204337017"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Erik Dupont","raw_affiliation_strings":["The Department of Neurology, Faculty of Health Sciences, Aarhus University, Aarhus University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Department of Neurology, Faculty of Health Sciences, Aarhus University, Aarhus University","institution_ids":["https://openalex.org/I204337017"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057085760","display_name":"Bente Krag-Olsen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bente Krag-Olsen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089333326","display_name":"Karen \u00d8stergaard","orcid":"https://orcid.org/0000-0003-4829-9761","observed_orcids":["https://orcid.org/0000-0003-4829-9761"]},"institutions":[{"id":"https://openalex.org/I204337017","display_name":"Aarhus University","ror":"https://ror.org/01aj84f44","country_code":"DK","type":"education","lineage":["https://openalex.org/I204337017"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Karen \u00d8stergaard","raw_affiliation_strings":["Department of Clinical Medicine - The Department of Neurology, Department of Clinical Medicine, Health, Aarhus University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Medicine - The Department of Neurology, Department of Clinical Medicine, Health, Aarhus University","institution_ids":["https://openalex.org/I204337017"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042227938","display_name":"Per Guldberg","orcid":"https://orcid.org/0000-0002-4424-4803","observed_orcids":["https://orcid.org/0000-0002-4424-4803"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Per Guldberg","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5112759011","display_name":"Flemming G\u00fcttler","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Flemming G\u00fcttler","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.4306,"has_fulltext":false,"cited_by_count":39,"citation_normalized_percentile":{"value":0.76307877,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"60","issue":"4","first_page":"618","last_page":"618"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.8496000170707703,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.8496000170707703,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.040300000458955765,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.039400000125169754,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/dopa-responsive-dystonia","display_name":"dopa-responsive dystonia","score":0.9850000143051147},{"id":"https://openalex.org/keywords/tourette-syndrome","display_name":"Tourette syndrome","score":0.9810000061988831},{"id":"https://openalex.org/keywords/gch1-gene","display_name":"GCH1 gene","score":0.8619999885559082},{"id":"https://openalex.org/keywords/gtp-cyclohydrolase-i","display_name":"GTP cyclohydrolase I","score":0.9190000295639038},{"id":"https://openalex.org/keywords/tetrahydrobiopterin-biosynthesis","display_name":"tetrahydrobiopterin biosynthesis","score":0.8740000128746033},{"id":"https://openalex.org/keywords/levodopa-response","display_name":"levodopa response","score":0.7350000143051147},{"id":"https://openalex.org/keywords/parkinsonism","display_name":"parkinsonism","score":0.8669999837875366},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.8899999856948853},{"id":"https://openalex.org/keywords/heterozygous-carriers","display_name":"heterozygous carriers","score":0.6909999847412109},{"id":"https://openalex.org/keywords/family-studies","display_name":"family studies","score":0.49799999594688416},{"id":"https://openalex.org/keywords/mutation-detection","display_name":"mutation detection","score":0.5329999923706055}],"concepts":[{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.9071760177612305},{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.8897005915641785},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.7527989149093628},{"id":"https://openalex.org/C2780304432","wikidata":"https://www.wikidata.org/wiki/Q300989","display_name":"Levodopa","level":4,"score":0.6817886233329773},{"id":"https://openalex.org/C2777451243","wikidata":"https://www.wikidata.org/wiki/Q408256","display_name":"Biopterin","level":5,"score":0.6758406758308411},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.5095651149749756},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.44820642471313477},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4410703480243683},{"id":"https://openalex.org/C2780968477","wikidata":"https://www.wikidata.org/wiki/Q5898279","display_name":"Hyperphenylalaninemia","level":4,"score":0.4381650686264038},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.38398030400276184},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3757941722869873},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37242138385772705},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3206349313259125},{"id":"https://openalex.org/C2776145790","wikidata":"https://www.wikidata.org/wiki/Q419808","display_name":"Tetrahydrobiopterin","level":4,"score":0.3144034147262573},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.21862506866455078},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.215093195438385},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.20102384686470032},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.13159245252609253},{"id":"https://openalex.org/C2779734285","wikidata":"https://www.wikidata.org/wiki/Q11085","display_name":"Parkinson's disease","level":3,"score":0.12180933356285095},{"id":"https://openalex.org/C2777431362","wikidata":"https://www.wikidata.org/wiki/Q170545","display_name":"Phenylalanine","level":3,"score":0.07107207179069519},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.0},{"id":"https://openalex.org/C2777622882","wikidata":"https://www.wikidata.org/wiki/Q417619","display_name":"Nitric oxide synthase","level":3,"score":0.0},{"id":"https://openalex.org/C519581460","wikidata":"https://www.wikidata.org/wiki/Q207843","display_name":"Nitric oxide","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003718","descriptor_name":"Denmark","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004421","descriptor_name":"Dystonia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D004421","descriptor_name":"Dystonia","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D004421","descriptor_name":"Dystonia","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D004421","descriptor_name":"Dystonia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005879","descriptor_name":"Tourette Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D005879","descriptor_name":"Tourette Syndrome","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D005879","descriptor_name":"Tourette Syndrome","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D005879","descriptor_name":"Tourette Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007980","descriptor_name":"Levodopa","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015259","descriptor_name":"Dopamine Agents","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1001/archneur.60.4.618","doi":"https://doi.org/10.1001/archneur.60.4.618","is_oa":false,"landing_page_url":"https://doi.org/10.1001/archneur.60.4.618","pdf_url":null,"source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},{"id":"pmid:12707079","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12707079","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of neurology","raw_type":"Journal Article"},{"id":"pmh:oai:pure.atira.dk:publications/f2bf3560-955f-11da-bee9-02004c4f4f50","doi":null,"is_oa":false,"landing_page_url":"https://pure.au.dk/portal/en/publications/f2bf3560-955f-11da-bee9-02004c4f4f50","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Romstand, A, Dupont, E, Krag-Olsen, B, \u00d8stergaard, K, Guldberg, P & G\u00fcttler, F 2003, 'Dopa-responsive dystonia and Tourette's syndrome in a large Danish family', Archives of Neurology, no. 60, pp. 618-622.","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W1252660048","https://openalex.org/W1533717041","https://openalex.org/W1580718840","https://openalex.org/W1787631295","https://openalex.org/W1971519543","https://openalex.org/W1976870579","https://openalex.org/W1980052057","https://openalex.org/W1981664395","https://openalex.org/W1987243198","https://openalex.org/W1989450508","https://openalex.org/W2001101999","https://openalex.org/W2011997541","https://openalex.org/W2028089490","https://openalex.org/W2030167146","https://openalex.org/W2048762042","https://openalex.org/W2080032492","https://openalex.org/W2082533131","https://openalex.org/W2083419094","https://openalex.org/W2092857037","https://openalex.org/W2095726969","https://openalex.org/W2097391518","https://openalex.org/W2104848948","https://openalex.org/W2106453369","https://openalex.org/W2116365881","https://openalex.org/W2117195273","https://openalex.org/W2120699008","https://openalex.org/W2121745401","https://openalex.org/W2133966135","https://openalex.org/W2146637640","https://openalex.org/W2224071325","https://openalex.org/W2312315657","https://openalex.org/W2405556557","https://openalex.org/W2613373403"],"related_works":["https://openalex.org/W2777423636","https://openalex.org/W7101155024","https://openalex.org/W1986938226","https://openalex.org/W2012355377","https://openalex.org/W2394011785","https://openalex.org/W2944098143","https://openalex.org/W126988780","https://openalex.org/W2355452676","https://openalex.org/W3029945724","https://openalex.org/W2072979049"],"abstract_inverted_index":{"BACKGROUND:":[0],"Guanosine":[1],"triphosphate":[2],"cyclohydrolase":[3],"I":[4],"(GTPCH)":[5],"catalyzes":[6],"the":[7,11,21,58,80,125,163,177,188,196,217],"first":[8],"step":[9],"in":[10,20,49,79,191,225],"synthesis":[12],"of":[13,28,47,57,83,92,110,119,129,157,162,176,182,198,205,209,219],"tetrahydrobiopterin":[14],"(BH4).":[15],"Autosomal":[16],"dominantly":[17],"inherited":[18],"defects":[19],"GTPCH":[22],"gene":[23,82],"(GCH1)":[24],"cause":[25],"a":[26,50,61,172],"form":[27],"dystonia":[29,38,158],"that":[30],"is":[31,211],"responsive":[32],"to":[33,139,143,213,223],"treatment":[34,173,204],"with":[35,89,167],"levodopa":[36],"(dopa-responsive":[37],"[DRD]).":[39],"OBJECTIVE:":[40],"To":[41],"investigate":[42],"molecular":[43,199],"and":[44,108,169,194,203],"clinical":[45,113],"aspects":[46],"DRD":[48,192],"large":[51,189],"Danish":[52,87],"family.":[53],"METHODS:":[54],"For":[55],"analysis":[56,200],"GCH1":[59,81,226],"gene,":[60],"mutation-scanning":[62],"method":[63],"based":[64],"on":[65],"denaturing":[66],"gradient":[67],"gel":[68],"electrophoresis":[69],"(DGGE)":[70],"was":[71,77],"used.":[72],"A":[73,117],"novel":[74],"mutation,":[75,107],"X251R,":[76],"identified":[78],"2":[84],"distantly":[85],"related":[86],"patients":[88,121],"DRD,":[90],"one":[91],"whom":[93,130],"also":[94],"had":[95,131,150,155,180],"Tourette":[96],"syndrome":[97],"(TS).":[98],"Thirty-five":[99],"additional":[100],"family":[101],"members":[102],"were":[103,122,165],"investigated":[104],"for":[105,124,201],"this":[106],"16":[109,128],"them":[111],"underwent":[112],"neurological":[114,132],"examination.":[115],"RESULTS:":[116],"total":[118],"18":[120],"heterozygous":[123],"X251R":[126],"allele,":[127],"complaints":[133],"spanning":[134],"from":[135],"very":[136],"mild":[137],"parkinsonism":[138],"severe":[140],"invalidism":[141],"due":[142,222],"dystonia.":[144],"Of":[145],"13":[146,170],"symptomatic":[147,178],"heterozygotes":[148,164,179],"who":[149],"been":[151],"neurologically":[152],"examined,":[153],"10":[154],"signs":[156,181],"or":[159],"parkinsonism.":[160],"Sixteen":[161],"treated":[166],"levodopa,":[168],"reported":[171],"benefit.":[174],"Three":[175],"TS.":[183],"CONCLUSIONS:":[184],"This":[185],"study":[186],"confirms":[187],"variability":[190],"symptoms":[193,221],"emphasizes":[195],"usefulness":[197],"diagnosis":[202],"DRD.":[206],"The":[207],"presence":[208],"TS":[210],"suggested":[212],"be":[214,228],"coincidental,":[215],"though":[216],"development":[218],"TS-like":[220],"mutations":[224],"cannot":[227],"excluded.":[229]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
