{"id":"https://openalex.org/W4290653247","doi":"https://doi.org/10.1212/con.0000000000001130","title":"Leukodystrophies","display_name":"Leukodystrophies","publication_year":2022,"publication_date":"2022-08-01","ids":{"openalex":"https://openalex.org/W4290653247","doi":"https://doi.org/10.1212/con.0000000000001130","pmid":"https://pubmed.ncbi.nlm.nih.gov/35938662","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11320896"},"language":"hu","primary_location":{"id":"doi:10.1212/con.0000000000001130","doi":"https://doi.org/10.1212/con.0000000000001130","is_oa":false,"landing_page_url":"https://doi.org/10.1212/con.0000000000001130","pdf_url":null,"source":{"id":"https://openalex.org/S4210206818","display_name":"CONTINUUM Lifelong Learning in Neurology","issn_l":"1080-2371","issn":["1080-2371","1538-6899"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","medline","poland-40","russia-white-list-2","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":"Continuum","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11320896","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5004600852","display_name":"Laura Ann Adang","orcid":"https://orcid.org/0000-0002-8454-1116","observed_orcids":["https://orcid.org/0000-0002-8454-1116"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Laura Adang","raw_affiliation_strings":["Children\u2019s Hospital of Philadelphia, Department of Neurology, 3501 Civic Center Blvd, Philadelphia, PA 19104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children\u2019s Hospital of Philadelphia, Department of Neurology, 3501 Civic Center Blvd, Philadelphia, PA 19104","institution_ids":["https://openalex.org/I1335321130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5004600852"],"corresponding_institution_ids":["https://openalex.org/I1335321130"],"apc_list":null,"apc_paid":null,"fwci":0.1818,"has_fulltext":false,"cited_by_count":11,"citation_normalized_percentile":{"value":0.1978022,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"28","issue":"4","first_page":"1194","last_page":"1216"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.8690999746322632,"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":0.8690999746322632,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.08030000329017639,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.014299999922513962,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/leukodystrophy","display_name":"leukodystrophy","score":0.9959999918937683},{"id":"https://openalex.org/keywords/demyelinating-disorders","display_name":"demyelinating disease","score":0.7369999885559082},{"id":"https://openalex.org/keywords/diagnosis","display_name":"diagnosis","score":0.6349999904632568},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.8899999856948853},{"id":"https://openalex.org/keywords/next-generation-sequencing","display_name":"next-generation sequencing","score":0.8420000076293945},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.9990000128746033},{"id":"https://openalex.org/keywords/presymptomatic-detection","display_name":"presymptomatic detection","score":0.7889999747276306},{"id":"https://openalex.org/keywords/disease-natural-history","display_name":"disease natural history","score":0.6919999718666077},{"id":"https://openalex.org/keywords/clinical-trial-design","display_name":"clinical trial design","score":0.7379999756813049},{"id":"https://openalex.org/keywords/targeted-therapy","display_name":"targeted therapy","score":0.5989999771118164},{"id":"https://openalex.org/keywords/pediatric-neurology","display_name":"pediatric neurology","score":0.7179999947547913}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5908649563789368},{"id":"https://openalex.org/C2776100374","wikidata":"https://www.wikidata.org/wiki/Q1821559","display_name":"Leukodystrophy","level":3,"score":0.5652343034744263},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5351259708404541},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.5216249227523804},{"id":"https://openalex.org/C535046627","wikidata":"https://www.wikidata.org/wiki/Q30612","display_name":"Clinical trial","level":2,"score":0.49020248651504517},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.41074082255363464},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.37667062878608704},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.14413189888000488}],"mesh":[{"descriptor_ui":"D000072141","descriptor_name":"Neurologists","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003711","descriptor_name":"Demyelinating Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015994","descriptor_name":"Incidence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019636","descriptor_name":"Neurodegenerative Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D052439","descriptor_name":"Lipid Metabolism Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1212/con.0000000000001130","doi":"https://doi.org/10.1212/con.0000000000001130","is_oa":false,"landing_page_url":"https://doi.org/10.1212/con.0000000000001130","pdf_url":null,"source":{"id":"https://openalex.org/S4210206818","display_name":"CONTINUUM Lifelong Learning in Neurology","issn_l":"1080-2371","issn":["1080-2371","1538-6899"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","medline","poland-40","russia-white-list-2","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":"Continuum","raw_type":"journal-article"},{"id":"pmid:35938662","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35938662","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":"Continuum (Minneapolis, Minn.)","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11320896","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11320896","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Continuum (Minneap Minn)","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:11320896","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11320896","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Continuum (Minneap Minn)","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[],"awards":[{"id":"https://openalex.org/G9000918009","display_name":"Global Leukodystrophy Initiative Clinical Trials Network (GLIA- CTN)","funder_award_id":"U54NS115052","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":75,"referenced_works":["https://openalex.org/W1601540095","https://openalex.org/W1752309458","https://openalex.org/W1965423459","https://openalex.org/W1966417542","https://openalex.org/W1991895314","https://openalex.org/W1995627975","https://openalex.org/W2005980639","https://openalex.org/W2017760549","https://openalex.org/W2021970968","https://openalex.org/W2025561666","https://openalex.org/W2034464562","https://openalex.org/W2046770750","https://openalex.org/W2047135667","https://openalex.org/W2056656939","https://openalex.org/W2063675796","https://openalex.org/W2071556127","https://openalex.org/W2076690763","https://openalex.org/W2092060332","https://openalex.org/W2092928842","https://openalex.org/W2100822576","https://openalex.org/W2107363872","https://openalex.org/W2134792098","https://openalex.org/W2146230109","https://openalex.org/W2151794393","https://openalex.org/W2155139766","https://openalex.org/W2166995213","https://openalex.org/W2233555255","https://openalex.org/W2332745006","https://openalex.org/W2342771456","https://openalex.org/W2346093359","https://openalex.org/W2411511471","https://openalex.org/W2412797997","https://openalex.org/W2470546931","https://openalex.org/W2509347882","https://openalex.org/W2522784175","https://openalex.org/W2560789859","https://openalex.org/W2563473464","https://openalex.org/W2738448756","https://openalex.org/W2750918355","https://openalex.org/W2752005215","https://openalex.org/W2767376202","https://openalex.org/W2770281423","https://openalex.org/W2782325848","https://openalex.org/W2791266209","https://openalex.org/W2802514488","https://openalex.org/W2894807422","https://openalex.org/W2902054717","https://openalex.org/W2911561986","https://openalex.org/W2935904135","https://openalex.org/W2944092451","https://openalex.org/W2953319350","https://openalex.org/W2962087604","https://openalex.org/W2976502661","https://openalex.org/W2986285797","https://openalex.org/W2998809417","https://openalex.org/W3007056503","https://openalex.org/W3009082849","https://openalex.org/W3028617995","https://openalex.org/W3038040636","https://openalex.org/W3038941211","https://openalex.org/W3043376044","https://openalex.org/W3082027965","https://openalex.org/W3083907847","https://openalex.org/W3085425379","https://openalex.org/W3091899305","https://openalex.org/W3108977719","https://openalex.org/W3112699753","https://openalex.org/W3118470334","https://openalex.org/W3126557128","https://openalex.org/W3143340732","https://openalex.org/W3163615060","https://openalex.org/W3164583844","https://openalex.org/W3212538775","https://openalex.org/W4210359797","https://openalex.org/W4210947153"],"related_works":["https://openalex.org/W3196208278","https://openalex.org/W4230453022","https://openalex.org/W4385272115","https://openalex.org/W2101178618","https://openalex.org/W4396619083","https://openalex.org/W6920877203","https://openalex.org/W2014430001","https://openalex.org/W2961527627","https://openalex.org/W3030960503","https://openalex.org/W4402737539"],"abstract_inverted_index":{"PURPOSE":[0],"OF":[1],"REVIEW:":[2],"This":[3,134,207],"article":[4],"reviews":[5],"the":[6,24,27,80,83,137,141,150,172,176,185,213],"most":[7,151],"common":[8,152],"leukodystrophies":[9,30,59,177],"and":[10,17,34,48,69,76,87,103,111,126,146,165,178,205],"is":[11,55,203],"focused":[12],"on":[13],"diagnosis,":[14],"clinical":[15,104,112,123,142],"features,":[16],"emerging":[18],"therapeutic":[19,132,186],"options.":[20],"RECENT":[21],"FINDINGS:":[22],"In":[23],"past":[25],"decade,":[26],"recognition":[28,84],"of":[29,66,85,99,119,140,144,175,201],"has":[31,127],"exponentially":[32],"increased,":[33],"now":[35,56],"this":[36,198],"class":[37],"includes":[38],"more":[39,116,159],"than":[40],"30":[41],"distinct":[42],"disorders.":[43],"Classically":[44],"recognized":[45,204],"as":[46],"progressive":[47],"fatal":[49],"disorders":[50,202],"affecting":[51],"young":[52],"children,":[53],"it":[54,193],"understood":[57],"that":[58,197],"are":[60,191],"associated":[61],"with":[62,96],"an":[63],"increasing":[64],"spectrum":[65,200],"neurologic":[67],"trajectories":[68],"can":[70],"affect":[71],"all":[72],"ages.":[73],"Next-generation":[74],"sequencing":[75,164],"newborn":[77,166],"screening":[78],"allow":[79],"opportunity":[81],"for":[82,149],"presymptomatic":[86],"atypical":[88],"cases.":[89],"These":[90],"new":[91],"testing":[92,157],"opportunities,":[93],"in":[94,212],"combination":[95],"growing":[97],"numbers":[98],"natural":[100],"history":[101],"studies":[102],"consensus":[105],"guidelines,":[106],"have":[107],"helped":[108],"improve":[109],"diagnosis":[110],"care.":[113],"Additionally,":[114],"a":[115],"granular":[117],"understanding":[118,139],"disease":[120,145],"outcomes":[121],"informs":[122],"trial":[124],"design":[125],"led":[128],"to":[129,181],"several":[130],"recent":[131],"advances.":[133],"review":[135],"summarizes":[136,209],"current":[138],"manifestations":[143],"treatment":[147],"options":[148],"leukodystrophies.":[153],"SUMMARY:":[154],"As":[155,188],"early":[156],"becomes":[158,194],"readily":[160],"available":[161],"through":[162],"next-generation":[163],"screening,":[167],"neurologists":[168],"will":[169],"better":[170],"understand":[171],"true":[173],"incidence":[174],"be":[179],"able":[180],"diagnose":[182],"children":[183],"within":[184],"window.":[187],"targeted":[189],"therapies":[190],"developed,":[192],"increasingly":[195],"imperative":[196],"broad":[199],"diagnosed.":[206],"work":[208],"key":[210],"advances":[211],"leukodystrophy":[214],"field.":[215]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2022,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2022-08-08T00:00:00"}
