{"id":"https://openalex.org/W2010060168","doi":"https://doi.org/10.1212/wnl.42.7.1396","title":"Adult\u2010onset mettachromatic leukodystophy presenting as isolated peripheral neuropathy","display_name":"Adult\u2010onset mettachromatic leukodystophy presenting as isolated peripheral neuropathy","publication_year":1992,"publication_date":"1992-07-01","ids":{"openalex":"https://openalex.org/W2010060168","doi":"https://doi.org/10.1212/wnl.42.7.1396","mag":"2010060168","pmid":"https://pubmed.ncbi.nlm.nih.gov/1320219"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.42.7.1396","doi":"https://doi.org/10.1212/wnl.42.7.1396","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.42.7.1396","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","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/A5091781388","display_name":"Catherine Fressinaud","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Fressinaud","raw_affiliation_strings":["Department of Neurology (Drs. Fressinand, Vallat, Jauberteau, and Hugon), University Hospital, Limoges, France, and the Cellular, Molecular and Clinical Neurology Unit Drs. Masson and Baumann, UNSERM U, 134 Salpe\u0301trie\u0300re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology (Drs. Fressinand, Vallat, Jauberteau, and Hugon), University Hospital, Limoges, France, and the Cellular, Molecular and Clinical Neurology Unit Drs. Masson and Baumann, UNSERM U, 134 Salpe\u0301trie\u0300re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111553230","display_name":"J. M. Vallat","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J. M. Vallat","raw_affiliation_strings":["Department of Neurology (Drs. Fressinand, Vallat, Jauberteau, and Hugon), University Hospital, Limoges, France, and the Cellular, Molecular and Clinical Neurology Unit Drs. Masson and Baumann, UNSERM U, 134 Salpe\u0301trie\u0300re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology (Drs. Fressinand, Vallat, Jauberteau, and Hugon), University Hospital, Limoges, France, and the Cellular, Molecular and Clinical Neurology Unit Drs. Masson and Baumann, UNSERM U, 134 Salpe\u0301trie\u0300re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019486048","display_name":"Martial Masson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M. Masson","raw_affiliation_strings":["Department of Neurology (Drs. Fressinand, Vallat, Jauberteau, and Hugon), University Hospital, Limoges, France, and the Cellular, Molecular and Clinical Neurology Unit Drs. Masson and Baumann, UNSERM U, 134 Salpe\u0301trie\u0300re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology (Drs. Fressinand, Vallat, Jauberteau, and Hugon), University Hospital, Limoges, France, and the Cellular, Molecular and Clinical Neurology Unit Drs. Masson and Baumann, UNSERM U, 134 Salpe\u0301trie\u0300re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045069451","display_name":"Marie\u2010Odile Jauberteau","orcid":"https://orcid.org/0000-0002-8811-8948","observed_orcids":["https://orcid.org/0000-0002-8811-8948"]},"institutions":[{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M. O. Jauberteau","raw_affiliation_strings":["Department of Neurology (Drs. Fressinand, Vallat, Jauberteau, and Hugon), University Hospital, Limoges, France, and the Cellular, Molecular and Clinical Neurology Unit Drs. Masson and Baumann, UNSERM U, 134 Salpe\u0301trie\u0300re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology (Drs. Fressinand, Vallat, Jauberteau, and Hugon), University Hospital, Limoges, France, and the Cellular, Molecular and Clinical Neurology Unit Drs. Masson and Baumann, UNSERM U, 134 Salpe\u0301trie\u0300re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003072589","display_name":"Nicole Baumann","orcid":"https://orcid.org/0000-0002-0788-8685","observed_orcids":["https://orcid.org/0000-0002-0788-8685"]},"institutions":[{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"N. Baumann","raw_affiliation_strings":["Department of Neurology (Drs. Fressinand, Vallat, Jauberteau, and Hugon), University Hospital, Limoges, France, and the Cellular, Molecular and Clinical Neurology Unit Drs. Masson and Baumann, UNSERM U, 134 Salpe\u0301trie\u0300re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology (Drs. Fressinand, Vallat, Jauberteau, and Hugon), University Hospital, Limoges, France, and the Cellular, Molecular and Clinical Neurology Unit Drs. Masson and Baumann, UNSERM U, 134 Salpe\u0301trie\u0300re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5054678193","display_name":"J. Huggon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J. Huggon","raw_affiliation_strings":["Department of Neurology (Drs. Fressinand, Vallat, Jauberteau, and Hugon), University Hospital, Limoges, France, and the Cellular, Molecular and Clinical Neurology Unit Drs. Masson and Baumann, UNSERM U, 134 Salpe\u0301trie\u0300re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology (Drs. Fressinand, Vallat, Jauberteau, and Hugon), University Hospital, Limoges, France, and the Cellular, Molecular and Clinical Neurology Unit Drs. Masson and Baumann, UNSERM U, 134 Salpe\u0301trie\u0300re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210121705"],"apc_list":null,"apc_paid":null,"fwci":1.2966,"has_fulltext":false,"cited_by_count":50,"citation_normalized_percentile":{"value":0.82127352,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"42","issue":"7","first_page":"1396","last_page":"1396"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.00139999995008111,"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0013000000035390258,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/peripheral-neuropathy","display_name":"peripheral neuropathy","score":0.9829999804496765},{"id":"https://openalex.org/keywords/demyelinating-neuropathy","display_name":"demyelinating neuropathy","score":0.9660000205039978},{"id":"https://openalex.org/keywords/metachromatic-leukodystrophy","display_name":"metachromatic leukodystrophy","score":0.8149999976158142},{"id":"https://openalex.org/keywords/motor-evoked-potentials","display_name":"motor evoked potentials","score":0.7360000014305115},{"id":"https://openalex.org/keywords/lower-limb-weakness","display_name":"lower limb weakness","score":0.5699999928474426},{"id":"https://openalex.org/keywords/demyelination","display_name":"demyelination","score":0.5550000071525574}],"concepts":[{"id":"https://openalex.org/C2776326100","wikidata":"https://www.wikidata.org/wiki/Q1120682","display_name":"Metachromatic leukodystrophy","level":2,"score":0.7927975058555603},{"id":"https://openalex.org/C2779901536","wikidata":"https://www.wikidata.org/wiki/Q945238","display_name":"Peripheral neuropathy","level":3,"score":0.6949299573898315},{"id":"https://openalex.org/C2779247111","wikidata":"https://www.wikidata.org/wiki/Q424837","display_name":"Arylsulfatase A","level":3,"score":0.6403207182884216},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6018205285072327},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5727197527885437},{"id":"https://openalex.org/C46762472","wikidata":"https://www.wikidata.org/wiki/Q178648","display_name":"Peripheral","level":2,"score":0.5340249538421631},{"id":"https://openalex.org/C2778609137","wikidata":"https://www.wikidata.org/wiki/Q105790271","display_name":"Myelin","level":3,"score":0.5153476595878601},{"id":"https://openalex.org/C2780247198","wikidata":"https://www.wikidata.org/wiki/Q633403","display_name":"Weakness","level":2,"score":0.5064085721969604},{"id":"https://openalex.org/C2775892965","wikidata":"https://www.wikidata.org/wiki/Q1502312","display_name":"Polyneuropathy","level":2,"score":0.49109840393066406},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2886527180671692},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.22509390115737915},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.19507381319999695},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.1473190188407898},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005071","descriptor_name":"Evoked Potentials","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007966","descriptor_name":"Leukodystrophy, Metachromatic","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D007966","descriptor_name":"Leukodystrophy, Metachromatic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D007966","descriptor_name":"Leukodystrophy, Metachromatic","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008854","descriptor_name":"Microscopy, Electron","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009431","descriptor_name":"Neural Conduction","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D010523","descriptor_name":"Peripheral Nervous System Diseases","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D010523","descriptor_name":"Peripheral Nervous System Diseases","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D010543","descriptor_name":"Peroneal Nerve","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1212/wnl.42.7.1396","doi":"https://doi.org/10.1212/wnl.42.7.1396","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.42.7.1396","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"pmid:1320219","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1320219","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":"Neurology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"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":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2414111130","https://openalex.org/W2163759168","https://openalex.org/W2437128165","https://openalex.org/W2095519039","https://openalex.org/W2325610857","https://openalex.org/W1966271546","https://openalex.org/W2468588077","https://openalex.org/W2371165264","https://openalex.org/W2039313608","https://openalex.org/W230125465"],"abstract_inverted_index":{"A":[0,54],"38-year-old":[1],"man":[2],"presented":[3],"with":[4],"weakness":[5],"of":[6,37,42,50,64,86],"the":[7,47,65,82],"lower":[8],"limbs.":[9],"Electrophysiology":[10],"revealed":[11,75],"a":[12],"pronounced":[13],"demyelinating":[14],"neuropathy.":[15,93],"Nerve":[16],"biopsy":[17],"disclosed":[18],"de-":[19],"and":[20,23,30,40,55,62],"remyelinating":[21],"lesions":[22],"characteristic":[24],"lamellar":[25],"inclusions":[26],"in":[27,60],"Schwann":[28],"cells":[29],"macrophages.":[31],"There":[32],"was":[33,46],"no":[34],"familial":[35],"history":[36],"neurologic":[38],"disorder,":[39],"impairment":[41],"motor":[43],"evoked":[44],"potentials":[45],"only":[48],"sign":[49],"CNS":[51],"involvement.":[52],"Arylsulfatase":[53],"cerebroside":[56],"sulfate":[57],"sulfatase":[58],"activities":[59],"leukocytes":[61],"cultures":[63],"patient's":[66],"fibroblasts":[67],"were":[68],"low.":[69],"The":[70],"sulfatide":[71,77],"loading":[72],"test":[73],"also":[74],"abnormal":[76],"accumulation.":[78],"This":[79],"may":[80],"be":[81],"first":[83],"reported":[84],"case":[85],"adult":[87],"metachromatic":[88],"leukodystrophy":[89],"presenting":[90],"as":[91],"peripheral":[92]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
