{"id":"https://openalex.org/W20549358","doi":null,"title":"[Alexander's disease in adults and diffuse cerebral gliomatosis in 2 members of the same family].","display_name":"[Alexander's disease in adults and diffuse cerebral gliomatosis in 2 members of the same family].","publication_year":1993,"publication_date":"1993-01-01","ids":{"openalex":"https://openalex.org/W20549358","mag":"20549358","pmid":"https://pubmed.ncbi.nlm.nih.gov/7997738"},"language":"fr","primary_location":{"id":"pmid:7997738","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7997738","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":"Revue neurologique","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5061141183","display_name":"J\u00e9r\u00f4me Honnorat","orcid":"https://orcid.org/0000-0002-4721-5952","observed_orcids":["https://orcid.org/0000-0002-4721-5952"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Honnorat","raw_affiliation_strings":["Service de Neuropathologie, H\u00f4pital Neurologique, Lyon"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neuropathologie, H\u00f4pital Neurologique, Lyon","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110547827","display_name":"F. Flocard","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F Flocard","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063602126","display_name":"C. Ribot","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C Ribot","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067627766","display_name":"G. Saint-Pierre","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Saint-Pierre","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074948264","display_name":"Didier Pineau","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D Pineau","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076319572","display_name":"P. Peysson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P Peysson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5110683575","display_name":"N. Kopp","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N Kopp","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.00158183,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"149","issue":"12","first_page":"781","last_page":"7"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10129","display_name":"Glioma Diagnosis and Treatment","score":0.7080000042915344,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10129","display_name":"Glioma Diagnosis and Treatment","score":0.7080000042915344,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.02930000051856041,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.022199999541044235,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/adult-onset-alexander-disease","display_name":"adult-onset Alexander disease","score":0.8029999732971191},{"id":"https://openalex.org/keywords/familial-glioma","display_name":"familial glioma","score":0.5640000104904175},{"id":"https://openalex.org/keywords/rosenthal-fibers","display_name":"Rosenthal fibers","score":0.8669999837875366},{"id":"https://openalex.org/keywords/pilocytic-astrocytoma","display_name":"pilocytic astrocytoma","score":0.8799999952316284},{"id":"https://openalex.org/keywords/pontine-atrophy","display_name":"pontine atrophy","score":0.7170000076293945},{"id":"https://openalex.org/keywords/cerebellar-atrophy","display_name":"cerebellar atrophy","score":0.9049999713897705},{"id":"https://openalex.org/keywords/autonomic-dysfunction","display_name":"autonomic dysfunction","score":0.925000011920929}],"concepts":[{"id":"https://openalex.org/C2777722931","wikidata":"https://www.wikidata.org/wiki/Q2095252","display_name":"Pilocytic astrocytoma","level":4,"score":0.660685658454895},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.6169024705886841},{"id":"https://openalex.org/C2778897929","wikidata":"https://www.wikidata.org/wiki/Q192570","display_name":"Pons","level":2,"score":0.5886817574501038},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5800129175186157},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.4473619759082794},{"id":"https://openalex.org/C2779717322","wikidata":"https://www.wikidata.org/wiki/Q1620193","display_name":"Cerebral atrophy","level":3,"score":0.42783206701278687},{"id":"https://openalex.org/C150253156","wikidata":"https://www.wikidata.org/wiki/Q7631120","display_name":"Subependymal zone","level":2,"score":0.41887959837913513},{"id":"https://openalex.org/C2779543035","wikidata":"https://www.wikidata.org/wiki/Q620639","display_name":"Dysautonomia","level":3,"score":0.4162668287754059},{"id":"https://openalex.org/C2781192897","wikidata":"https://www.wikidata.org/wiki/Q822050","display_name":"White matter","level":3,"score":0.4107048213481903},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.36169010400772095},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.2767688035964966},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.27146288752555847},{"id":"https://openalex.org/C2778227246","wikidata":"https://www.wikidata.org/wiki/Q1365309","display_name":"Glioma","level":2,"score":0.26229768991470337},{"id":"https://openalex.org/C2778880634","wikidata":"https://www.wikidata.org/wiki/Q177755","display_name":"Astrocytoma","level":3,"score":0.24196955561637878},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.2119271457195282},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.18579724431037903},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001253","descriptor_name":"Astrocytes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001927","descriptor_name":"Brain Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001927","descriptor_name":"Brain Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001932","descriptor_name":"Brain Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001932","descriptor_name":"Brain Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002526","descriptor_name":"Cerebellar Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002526","descriptor_name":"Cerebellar Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003711","descriptor_name":"Demyelinating Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003711","descriptor_name":"Demyelinating Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005910","descriptor_name":"Glioma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005910","descriptor_name":"Glioma","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009454","descriptor_name":"Neurofibrils","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:7997738","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7997738","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":"Revue neurologique","raw_type":"Case Reports"},{"id":"mag:20549358","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7997738","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.979200005531311,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":6,"referenced_works":["https://openalex.org/W2020925032","https://openalex.org/W2041181643","https://openalex.org/W2042633711","https://openalex.org/W2043072184","https://openalex.org/W2076742869","https://openalex.org/W2132366254"],"related_works":["https://openalex.org/W2289383848","https://openalex.org/W1979900849","https://openalex.org/W2102379118","https://openalex.org/W2014672466","https://openalex.org/W2078428933","https://openalex.org/W2412652510","https://openalex.org/W2417542584","https://openalex.org/W2080186585","https://openalex.org/W4388066908","https://openalex.org/W2887614641"],"abstract_inverted_index":{"A":[0],"31-year":[1],"old":[2],"woman":[3],"died":[4],"after":[5],"10":[6],"years":[7,112],"of":[8,48,59,62,68,135],"progressive":[9],"dysautonomia":[10],"and":[11,13,21,38,51,107],"cerebellar":[12,22],"pyramidal":[14],"symptoms.":[15],"CT":[16],"scan":[17],"showed":[18],"pontine,":[19],"bulbar":[20],"atrophy.":[23],"Post-mortem":[24],"examination":[25,81],"revealed":[26,82],"Rosenthal's":[27,87],"fibers":[28],"widespread":[29],"throughout":[30],"the":[31,36,66,70,133],"CNS,":[32],"but":[33],"especially":[34],"in":[35,101],"subependymal":[37],"perivascular":[39],"regions.":[40],"White":[41],"matter":[42],"cavitations":[43],"involving":[44],"peri-ventricular":[45],"regions,":[46],"hilum":[47],"dentate":[49],"nuclei":[50],"pons":[52],"were":[53],"observed,":[54],"leading":[55],"to":[56],"a":[57,77,83,104,124,136],"diagnosis":[58],"adult":[60],"form":[61],"Alexander's":[63],"disease.":[64],"At":[65],"age":[67],"5,":[69],"patient":[71],"had":[72,92],"been":[73,93,98],"operated":[74,99],"upon":[75,100],"for":[76,103],"chiasmatic":[78],"tumor.":[79],"Microscopic":[80],"pilocytic":[84],"astrocytoma":[85],"without":[86],"fibers.":[88],"No":[89],"complementary":[90],"radiotherapy":[91],"done.":[94],"Her":[95],"mother":[96],"has":[97],"1972,":[102],"high-grade":[105],"glioma":[106],"is":[108],"still":[109],"alive":[110],"20":[111],"later.":[113],"This":[114,119],"suggests":[115],"diffuse":[116],"cerebral":[117],"gliomatosis.":[118],"family":[120],"history":[121],"may":[122],"suggest":[123],"relation":[125],"between":[126],"these":[127],"different":[128],"diseases.":[129],"They":[130],"might":[131],"be":[132],"result":[134],"transmissible":[137],"astrocytic":[138],"abnormality":[139],"with":[140],"varying":[141],"expression.":[142]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}