{"id":"https://openalex.org/W2050002947","doi":"https://doi.org/10.1002/ajmg.1320210409","title":"An X\u2010linked recessive basal ganglia disorder with mental retardation","display_name":"An X\u2010linked recessive basal ganglia disorder with mental retardation","publication_year":1985,"publication_date":"1985-08-01","ids":{"openalex":"https://openalex.org/W2050002947","doi":"https://doi.org/10.1002/ajmg.1320210409","mag":"2050002947","pmid":"https://pubmed.ncbi.nlm.nih.gov/4025396"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.1320210409","doi":"https://doi.org/10.1002/ajmg.1320210409","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320210409","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","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/A5091539437","display_name":"Renata Laxov\u00e1","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]},{"id":"https://openalex.org/I4210159936","display_name":"Shodair Children's Hospital","ror":"https://ror.org/052k2q138","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210159936"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Renata Laxova","raw_affiliation_strings":["Departments of Medical Genetics, Pediatrics, and Neurology, University of Wisconsin-Madison, and Shodair Children's Hospital, Helena, Montana"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medical Genetics, Pediatrics, and Neurology, University of Wisconsin-Madison, and Shodair Children's Hospital, Helena, Montana","institution_ids":["https://openalex.org/I135310074","https://openalex.org/I4210159936"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103342210","display_name":"Eleanor S. Brown","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]},{"id":"https://openalex.org/I4210159936","display_name":"Shodair Children's Hospital","ror":"https://ror.org/052k2q138","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210159936"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eleanor S. Brown","raw_affiliation_strings":["Departments of Medical Genetics, Pediatrics, and Neurology, University of Wisconsin-Madison, and Shodair Children's Hospital, Helena, Montana"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medical Genetics, Pediatrics, and Neurology, University of Wisconsin-Madison, and Shodair Children's Hospital, Helena, Montana","institution_ids":["https://openalex.org/I135310074","https://openalex.org/I4210159936"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043921386","display_name":"Kirk J. Hogan","orcid":"https://orcid.org/0000-0001-6329-2651","observed_orcids":["https://orcid.org/0000-0001-6329-2651"]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]},{"id":"https://openalex.org/I4210159936","display_name":"Shodair Children's Hospital","ror":"https://ror.org/052k2q138","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210159936"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kirk Hogan","raw_affiliation_strings":["Departments of Medical Genetics, Pediatrics, and Neurology, University of Wisconsin-Madison, and Shodair Children's Hospital, Helena, Montana"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medical Genetics, Pediatrics, and Neurology, University of Wisconsin-Madison, and Shodair Children's Hospital, Helena, Montana","institution_ids":["https://openalex.org/I135310074","https://openalex.org/I4210159936"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111640734","display_name":"Kurt E. Hecox","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]},{"id":"https://openalex.org/I4210159936","display_name":"Shodair Children's Hospital","ror":"https://ror.org/052k2q138","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210159936"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kurt Hecox","raw_affiliation_strings":["Departments of Medical Genetics, Pediatrics, and Neurology, University of Wisconsin-Madison, and Shodair Children's Hospital, Helena, Montana"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medical Genetics, Pediatrics, and Neurology, University of Wisconsin-Madison, and Shodair Children's Hospital, Helena, Montana","institution_ids":["https://openalex.org/I135310074","https://openalex.org/I4210159936"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074375882","display_name":"John M. Opitz","orcid":"https://orcid.org/0000-0002-6991-8835","observed_orcids":["https://orcid.org/0000-0002-6991-8835"]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]},{"id":"https://openalex.org/I4210159936","display_name":"Shodair Children's Hospital","ror":"https://ror.org/052k2q138","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210159936"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John M. Opitz","raw_affiliation_strings":["Departments of Medical Genetics, Pediatrics, and Neurology, University of Wisconsin-Madison, and Shodair Children's Hospital, Helena, Montana"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medical Genetics, Pediatrics, and Neurology, University of Wisconsin-Madison, and Shodair Children's Hospital, Helena, Montana","institution_ids":["https://openalex.org/I135310074","https://openalex.org/I4210159936"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5066612569","display_name":"James F. Reynolds","orcid":"https://orcid.org/0000-0003-2367-879X","observed_orcids":["https://orcid.org/0000-0003-2367-879X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"James F. Reynolds","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5091539437"],"corresponding_institution_ids":["https://openalex.org/I135310074","https://openalex.org/I4210159936"],"apc_list":null,"apc_paid":null,"fwci":0.4789,"has_fulltext":false,"cited_by_count":33,"citation_normalized_percentile":{"value":0.63913509,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"21","issue":"4","first_page":"681","last_page":"689"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.34619998931884766,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.34619998931884766,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.12380000203847885,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.1234000027179718,"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/x-linked-recessive-inheritance","display_name":"X-linked recessive inheritance","score":0.8989999890327454},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.8679999709129333},{"id":"https://openalex.org/keywords/frontal-bossing","display_name":"frontal bossing","score":0.8370000123977661},{"id":"https://openalex.org/keywords/cogwheel-rigidity","display_name":"cogwheel rigidity","score":0.9620000123977661},{"id":"https://openalex.org/keywords/parkinsonian-tremor","display_name":"parkinsonian tremor","score":0.7710000276565552},{"id":"https://openalex.org/keywords/strabismus","display_name":"strabismus","score":0.8899999856948853},{"id":"https://openalex.org/keywords/seizures","display_name":"seizures","score":0.9710000157356262},{"id":"https://openalex.org/keywords/carrier-detection","display_name":"carrier detection","score":0.7590000033378601},{"id":"https://openalex.org/keywords/familial-segregation","display_name":"family segregation","score":0.5720000267028809},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.527999997138977}],"concepts":[{"id":"https://openalex.org/C2778187257","wikidata":"https://www.wikidata.org/wiki/Q464210","display_name":"Basal ganglia","level":3,"score":0.7191182374954224},{"id":"https://openalex.org/C62564794","wikidata":"https://www.wikidata.org/wiki/Q1988987","display_name":"X-linked recessive inheritance","level":4,"score":0.5450620055198669},{"id":"https://openalex.org/C2778024521","wikidata":"https://www.wikidata.org/wiki/Q55639806","display_name":"Basal (medicine)","level":3,"score":0.45264604687690735},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.45070430636405945},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4048752784729004},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.40136995911598206},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.37121230363845825},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.33005309104919434},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.24260163307189941},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13740837574005127},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.069814532995224},{"id":"https://openalex.org/C2779306644","wikidata":"https://www.wikidata.org/wiki/Q2002370","display_name":"Insulin","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D001480","descriptor_name":"Basal Ganglia Diseases","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":"D006257","descriptor_name":"Head","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012640","descriptor_name":"Seizures","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.1320210409","doi":"https://doi.org/10.1002/ajmg.1320210409","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320210409","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:4025396","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/4025396","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":"American journal of medical genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":5,"referenced_works":["https://openalex.org/W1712618608","https://openalex.org/W2076552749","https://openalex.org/W2076940976","https://openalex.org/W2122969140","https://openalex.org/W2340375833"],"related_works":["https://openalex.org/W1967195471","https://openalex.org/W2132542217","https://openalex.org/W2056265699","https://openalex.org/W2231901692","https://openalex.org/W2150403964","https://openalex.org/W2090316206","https://openalex.org/W2079521906","https://openalex.org/W2414455798","https://openalex.org/W2087920973","https://openalex.org/W2037972890"],"abstract_inverted_index":{"We":[0],"report":[1],"a":[2],"previously":[3],"apparently":[4],"undescribed,":[5],"X-linked":[6],"recessive":[7],"basal":[8],"ganglia":[9],"disorder":[10,124],"segregating":[11],"in":[12,29,47,127,129,156],"three":[13],"generations":[14],"of":[15,61,73,108,122,144,154],"one":[16],"family.":[17],"The":[18],"affected":[19,35,131],"patients":[20,83],"were":[21,69,80,111],"variably":[22],"mentally":[23],"retarded,":[24],"although":[25],"some":[26],"showed":[27],"strengths":[28],"oral":[30],"reading":[31],"and":[32,40,54,71,97,133],"memory.":[33],"Most":[34],"males":[36],"had":[37,85,101,104,116],"frontal":[38,90],"bossing":[39],"increased":[41],"head":[42],"circumference":[43],"with":[44],"large":[45],"calvaria":[46],"relation":[48],"to":[49,142,151],"facial":[50],"bones.":[51],"Their":[52],"height":[53],"weight":[55],"did":[56],"not":[57,112],"differ":[58],"from":[59],"that":[60,137],"other":[62],"relatives;":[63],"testicular":[64],"size":[65],"was":[66,125],"average,":[67],"chromosomes":[68],"normal,":[70],"results":[72],"laboratory":[74],"investigations":[75],"for":[76],"known":[77],"metabolic":[78],"disorders":[79],"normal.":[81],"All":[82],"examined":[84],"neurological":[86],"impairment,":[87],"including":[88],"persistent":[89],"lobe":[91],"reflexes,":[92],"cogwheel":[93],"rigidity,":[94],"postural":[95],"changes,":[96],"Parkinsonian-type":[98],"tremors.":[99],"Some":[100],"strabismus;":[102],"several":[103],"seizures.":[105],"Although":[106],"carriers":[107],"the":[109,123,152],"condition":[110],"consistently":[113],"abnormal,":[114],"two":[115],"suggestive":[117],"signs.":[118],"No":[119],"definitive":[120],"indication":[121],"documented":[126],"infancy":[128],"any":[130],"male,":[132],"it":[134],"is":[135],"possible":[136],"this":[138],"could":[139],"be":[140],"due":[141],"lack":[143],"careful":[145],"prospective":[146],"clinical":[147],"evaluation":[148],"rather":[149],"than":[150],"absence":[153],"symptoms":[155],"early":[157],"life.":[158]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}