{"id":"https://openalex.org/W2016141452","doi":"https://doi.org/10.1002/mus.880170409","title":"X\u2010linked bulbospinomuscular atrophy (Kennedy's disease) masquerading as lead neuropathy","display_name":"X\u2010linked bulbospinomuscular atrophy (Kennedy's disease) masquerading as lead neuropathy","publication_year":1994,"publication_date":"1994-04-01","ids":{"openalex":"https://openalex.org/W2016141452","doi":"https://doi.org/10.1002/mus.880170409","mag":"2016141452","pmid":"https://pubmed.ncbi.nlm.nih.gov/8170488"},"language":"en","primary_location":{"id":"doi:10.1002/mus.880170409","doi":"https://doi.org/10.1002/mus.880170409","is_oa":false,"landing_page_url":"https://doi.org/10.1002/mus.880170409","pdf_url":null,"source":{"id":"https://openalex.org/S173274907","display_name":"Muscle & Nerve","issn_l":"0148-639X","issn":["0148-639X","1097-4598"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"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":"Muscle & Nerve","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/A5109546616","display_name":"James W. Albers","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]},{"id":"https://openalex.org/I4210114445","display_name":"Michigan Medicine","ror":"https://ror.org/01zcpa714","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210114445"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"James W. Albers","raw_affiliation_strings":["Department of Neurology, University of Michigan Medical Center, Ann Arbor 48109-0316"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Michigan Medical Center, Ann Arbor 48109-0316","institution_ids":["https://openalex.org/I27837315","https://openalex.org/I4210114445"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110332015","display_name":"Mark B. Bromberg","orcid":"https://orcid.org/0000-0003-3230-7130","observed_orcids":["https://orcid.org/0000-0003-3230-7130"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]},{"id":"https://openalex.org/I4210114445","display_name":"Michigan Medicine","ror":"https://ror.org/01zcpa714","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210114445"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mark B. Bromberg","raw_affiliation_strings":["Department of Neurology, University of Michigan Medical Center, Ann Arbor, Michigan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Michigan Medical Center, Ann Arbor, Michigan","institution_ids":["https://openalex.org/I27837315","https://openalex.org/I4210114445"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5109546616"],"corresponding_institution_ids":["https://openalex.org/I27837315","https://openalex.org/I4210114445"],"apc_list":{"value":4610,"currency":"USD","value_usd":4610},"apc_paid":null,"fwci":0.1248,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.31736479,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"17","issue":"4","first_page":"419","last_page":"423"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.8838000297546387,"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"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.8838000297546387,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.09080000221729279,"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/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.00839999970048666,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/spinal-and-bulbar-muscular-atrophy","display_name":"spinal and bulbar muscular atrophy","score":0.9789999723434448},{"id":"https://openalex.org/keywords/misdiagnosis","display_name":"misdiagnosis","score":0.8149999976158142},{"id":"https://openalex.org/keywords/androgen-receptor-mutations","display_name":"androgen receptor mutations","score":0.9399999976158142},{"id":"https://openalex.org/keywords/x-linked-inheritance","display_name":"X-linked inheritance","score":0.6320000290870667},{"id":"https://openalex.org/keywords/chelation-therapy","display_name":"chelation therapy","score":0.7129999995231628},{"id":"https://openalex.org/keywords/sensory-nerve-action-potential","display_name":"sensory nerve action potential","score":0.5440000295639038},{"id":"https://openalex.org/keywords/postural-tremor","display_name":"postural tremor","score":0.7509999871253967},{"id":"https://openalex.org/keywords/denervation","display_name":"denervation","score":0.5929999947547913},{"id":"https://openalex.org/keywords/gynecomastia","display_name":"gynecomastia","score":0.7940000295639038}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7932301759719849},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.6525982618331909},{"id":"https://openalex.org/C2776805190","wikidata":"https://www.wikidata.org/wiki/Q1187030","display_name":"Denervation","level":2,"score":0.6062912940979004},{"id":"https://openalex.org/C2779819292","wikidata":"https://www.wikidata.org/wiki/Q2006818","display_name":"Muscle cramp","level":2,"score":0.5949681997299194},{"id":"https://openalex.org/C2780247198","wikidata":"https://www.wikidata.org/wiki/Q633403","display_name":"Weakness","level":2,"score":0.498140811920166},{"id":"https://openalex.org/C2780434838","wikidata":"https://www.wikidata.org/wiki/Q1995327","display_name":"Spinal and bulbar muscular atrophy","level":5,"score":0.4916594624519348},{"id":"https://openalex.org/C2777691561","wikidata":"https://www.wikidata.org/wiki/Q339221","display_name":"Gynecomastia","level":2,"score":0.4586150646209717},{"id":"https://openalex.org/C2776263037","wikidata":"https://www.wikidata.org/wiki/Q1557686","display_name":"Muscle atrophy","level":3,"score":0.45645424723625183},{"id":"https://openalex.org/C2779155698","wikidata":"https://www.wikidata.org/wiki/Q2844600","display_name":"Amyotrophy","level":3,"score":0.4314742386341095},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4129927158355713},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.3447008430957794},{"id":"https://openalex.org/C61367390","wikidata":"https://www.wikidata.org/wiki/Q416601","display_name":"Androgen receptor","level":4,"score":0.0883883535861969},{"id":"https://openalex.org/C2780192828","wikidata":"https://www.wikidata.org/wiki/Q181257","display_name":"Prostate cancer","level":3,"score":0.0},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000200","descriptor_name":"Action Potentials","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004576","descriptor_name":"Electromyography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006177","descriptor_name":"Gynecomastia","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007855","descriptor_name":"Lead Poisoning","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008475","descriptor_name":"Median Nerve","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D009043","descriptor_name":"Motor Activity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009046","descriptor_name":"Motor Neurons","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000139","qualifier_name":"chemically induced","is_major_topic":false},{"descriptor_ui":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009475","descriptor_name":"Neurons, Afferent","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D011826","descriptor_name":"Radial Nerve","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D013497","descriptor_name":"Sural Nerve","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D014459","descriptor_name":"Ulnar Nerve","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016472","descriptor_name":"Motor Neuron Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1002/mus.880170409","doi":"https://doi.org/10.1002/mus.880170409","is_oa":false,"landing_page_url":"https://doi.org/10.1002/mus.880170409","pdf_url":null,"source":{"id":"https://openalex.org/S173274907","display_name":"Muscle & Nerve","issn_l":"0148-639X","issn":["0148-639X","1097-4598"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"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":"Muscle & Nerve","raw_type":"journal-article"},{"id":"pmid:8170488","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8170488","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":"Muscle & nerve","raw_type":"Case Reports"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.825.3938","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.825.3938","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://deepblue.lib.umich.edu/bitstream/handle/2027.42/50160/880170409_ftp.pdf%3Bjsessionid%3DE8F2D9E8CBF8CF4B857BF3D87FDBCD2B?sequence%3D1","raw_type":"text"},{"id":"pmh:oai:deepblue.lib.umich.edu:2027.42/50160","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2027.42/50160","pdf_url":null,"source":{"id":"https://openalex.org/S4306400393","display_name":"Deep Blue (University of Michigan)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I27837315","host_organization_name":"University of Michigan","host_organization_lineage":["https://openalex.org/I27837315"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"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":21,"referenced_works":["https://openalex.org/W1973716706","https://openalex.org/W1980268061","https://openalex.org/W1985148698","https://openalex.org/W1985902870","https://openalex.org/W1997079760","https://openalex.org/W2001767199","https://openalex.org/W2013480713","https://openalex.org/W2031489923","https://openalex.org/W2047384958","https://openalex.org/W2066865135","https://openalex.org/W2073961185","https://openalex.org/W2083910157","https://openalex.org/W2113333419","https://openalex.org/W2117527164","https://openalex.org/W2135052626","https://openalex.org/W2395351159","https://openalex.org/W2462203911","https://openalex.org/W2465984716","https://openalex.org/W4206231937","https://openalex.org/W4242614327","https://openalex.org/W4249326714"],"related_works":["https://openalex.org/W7098992226","https://openalex.org/W2800777592","https://openalex.org/W4400117915","https://openalex.org/W194731540","https://openalex.org/W2141415456","https://openalex.org/W2405758342","https://openalex.org/W1983553360","https://openalex.org/W2793963582","https://openalex.org/W3009583088","https://openalex.org/W4405119994"],"abstract_inverted_index":{"A":[0,61],"43-year-old":[1],"male":[2],"was":[3],"referred":[4],"by":[5],"a":[6,13,17,40,72],"veterinarian":[7],"who":[8],"evaluated":[9],"his":[10],"dog":[11],"for":[12,21,129],"seizure":[14],"and":[15,29,35,53,64,67,92,105,110],"suspected":[16],"toxic":[18],"lead":[19,69,75,81,114],"exposure":[20],"both.":[22],"He":[23,38],"refurbished":[24],"houses,":[25],"removing":[26],"old":[27],"paint,":[28],"complained":[30],"of":[31,74,108,135],"decreased":[32],"cognition,":[33],"fatigue,":[34],"muscle":[36],"cramps.":[37],"had":[39,98],"depressed":[41],"affect,":[42],"postural":[43],"tremor,":[44],"right":[45],"arm":[46],"weakness":[47],"with":[48,90],"partial":[49],"denervation":[50,107],"on":[51,125],"EMG,":[52],"borderline-low":[54],"sensory":[55],"nerve":[56],"action":[57],"potential":[58],"(SNAP)":[59],"amplitudes.":[60],"mild":[62],"anemia":[63],"elevated":[65],"serum":[66],"urine":[68,80],"levels":[70,115],"supported":[71],"diagnosis":[73,134],"neuropathy.":[76],"Chelation":[77],"therapy":[78],"increased":[79],"excretion":[82],"without":[83],"symptomatic":[84],"improvement.":[85],"His":[86,113],"brother":[87],"worked":[88],"part-time":[89],"him":[91],"developed":[93],"similar":[94],"findings,":[95],"but":[96,119],"also":[97],"difficulty":[99],"chewing,":[100],"dysphagia,":[101],"perioral":[102],"twitching,":[103],"gynecomastia,":[104],"multifocal":[106],"extremity":[109],"facial":[111],"muscles.":[112],"were":[116],"not":[117],"elevated,":[118],"an":[120],"androgen":[121],"receptor":[122],"mutation":[123],"identified":[124],"the":[126,133],"X":[127],"chromosome":[128],"both":[130],"brothers":[131],"confirmed":[132],"X-linked":[136],"bulbospinomuscular":[137],"atrophy":[138],"(Kennedy's":[139],"disease).":[140]},"counts_by_year":[{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}