{"id":"https://openalex.org/W2017153256","doi":"https://doi.org/10.1159/000363687","title":"Neuronal Intranuclear Inclusion Disease Presenting with Resting Tremor","display_name":"Neuronal Intranuclear Inclusion Disease Presenting with Resting Tremor","publication_year":2014,"publication_date":"2014-05-28","ids":{"openalex":"https://openalex.org/W2017153256","doi":"https://doi.org/10.1159/000363687","mag":"2017153256","pmid":"https://pubmed.ncbi.nlm.nih.gov/24987362","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4067726"},"language":"en","primary_location":{"id":"doi:10.1159/000363687","doi":"https://doi.org/10.1159/000363687","is_oa":true,"landing_page_url":"https://doi.org/10.1159/000363687","pdf_url":null,"source":{"id":"https://openalex.org/S24617540","display_name":"Case Reports in Neurology","issn_l":"1662-680X","issn":["1662-680X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1159/000363687","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5054153313","display_name":"Naoyuki Kitagawa","orcid":"https://orcid.org/0000-0001-7191-4203","observed_orcids":["https://orcid.org/0000-0001-7191-4203"]},"institutions":[{"id":"https://openalex.org/I158929114","display_name":"Tokyo Medical University","ror":"https://ror.org/00k5j5c86","country_code":"JP","type":"education","lineage":["https://openalex.org/I158929114"]},{"id":"https://openalex.org/I4405252894","display_name":"Kohsei Chuo General Hospital","ror":"https://ror.org/00396tw82","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405252894"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Naoyuki Kitagawa","raw_affiliation_strings":["Department of Neurology, Kohsei Chuo General Hospital, Tokyo Medical University, Tokyo, Japan"],"raw_orcid":"https://orcid.org/0000-0001-7191-4203","affiliations":[{"raw_affiliation_string":"Department of Neurology, Kohsei Chuo General Hospital, Tokyo Medical University, Tokyo, Japan","institution_ids":["https://openalex.org/I158929114","https://openalex.org/I4405252894"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031121023","display_name":"Jun Sone","orcid":"https://orcid.org/0000-0002-9057-7609","observed_orcids":["https://orcid.org/0000-0002-9057-7609"]},"institutions":[{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Jun Sone","raw_affiliation_strings":["Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan","institution_ids":["https://openalex.org/I60134161"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045535997","display_name":"Gen Sobue","orcid":"https://orcid.org/0000-0003-4769-5922","observed_orcids":["https://orcid.org/0000-0003-4769-5922"]},"institutions":[{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Gen Sobue","raw_affiliation_strings":["Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan","institution_ids":["https://openalex.org/I60134161"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005230545","display_name":"Masahiko Kuroda","orcid":"https://orcid.org/0000-0001-7052-4289","observed_orcids":["https://orcid.org/0000-0001-7052-4289"]},"institutions":[{"id":"https://openalex.org/I158929114","display_name":"Tokyo Medical University","ror":"https://ror.org/00k5j5c86","country_code":"JP","type":"education","lineage":["https://openalex.org/I158929114"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Masahiko Kuroda","raw_affiliation_strings":["Department of Molecular Pathology, Tokyo Medical University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Pathology, Tokyo Medical University, Tokyo, Japan","institution_ids":["https://openalex.org/I158929114"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108412937","display_name":"Michio Sakurai","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I158929114","display_name":"Tokyo Medical University","ror":"https://ror.org/00k5j5c86","country_code":"JP","type":"education","lineage":["https://openalex.org/I158929114"]},{"id":"https://openalex.org/I4405252894","display_name":"Kohsei Chuo General Hospital","ror":"https://ror.org/00396tw82","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405252894"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Michio Sakurai","raw_affiliation_strings":["Department of Neurology, Kohsei Chuo General Hospital, Tokyo Medical University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Kohsei Chuo General Hospital, Tokyo Medical University, Tokyo, Japan","institution_ids":["https://openalex.org/I158929114","https://openalex.org/I4405252894"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5054153313"],"corresponding_institution_ids":["https://openalex.org/I158929114","https://openalex.org/I4405252894"],"apc_list":{"value":1030,"currency":"USD","value_usd":1030},"apc_paid":{"value":1030,"currency":"USD","value_usd":1030},"fwci":0.3489,"has_fulltext":true,"cited_by_count":19,"citation_normalized_percentile":{"value":0.48221739,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":98},"biblio":{"volume":"6","issue":"2","first_page":"176","last_page":"180"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9175000190734863,"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":0.9175000190734863,"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":0.04780000075697899,"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"}},{"id":"https://openalex.org/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.010099999606609344,"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/neuronal-intranuclear-inclusion-disease","display_name":"neuronal intranuclear inclusion disease","score":1.0},{"id":"https://openalex.org/keywords/resting-tremor","display_name":"resting tremor","score":0.9990000128746033},{"id":"https://openalex.org/keywords/parkinsonism","display_name":"parkinsonism","score":0.6970000267028809},{"id":"https://openalex.org/keywords/differential-diagnosis","display_name":"differential diagnosis","score":0.6819999814033508},{"id":"https://openalex.org/keywords/parkinson-s-disease","display_name":"Parkinson's disease","score":0.8920000195503235},{"id":"https://openalex.org/keywords/neurodegenerative-diseases","display_name":"neurodegenerative diseases","score":0.8510000109672546},{"id":"https://openalex.org/keywords/skin-biopsy","display_name":"skin biopsy","score":0.6940000057220459},{"id":"https://openalex.org/keywords/levodopa-resistance","display_name":"levodopa resistance","score":0.703000009059906},{"id":"https://openalex.org/keywords/trihexyphenidyl","display_name":"trihexyphenidyl","score":0.9959999918937683}],"concepts":[{"id":"https://openalex.org/C2779406339","wikidata":"https://www.wikidata.org/wiki/Q2991856","display_name":"Trihexyphenidyl","level":2,"score":0.9000687599182129},{"id":"https://openalex.org/C2911210631","wikidata":"https://www.wikidata.org/wiki/Q223907","display_name":"Resting tremor","level":4,"score":0.8330891132354736},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8152202367782593},{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.7602411508560181},{"id":"https://openalex.org/C2780439664","wikidata":"https://www.wikidata.org/wiki/Q7535376","display_name":"Skin biopsy","level":3,"score":0.5721943378448486},{"id":"https://openalex.org/C2780304432","wikidata":"https://www.wikidata.org/wiki/Q300989","display_name":"Levodopa","level":4,"score":0.5511991381645203},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5239115953445435},{"id":"https://openalex.org/C2780801072","wikidata":"https://www.wikidata.org/wiki/Q837512","display_name":"Differential diagnosis","level":2,"score":0.5116667747497559},{"id":"https://openalex.org/C2779734285","wikidata":"https://www.wikidata.org/wiki/Q11085","display_name":"Parkinson's disease","level":3,"score":0.44561293721199036},{"id":"https://openalex.org/C2780112193","wikidata":"https://www.wikidata.org/wiki/Q693519","display_name":"Essential tremor","level":2,"score":0.4394381642341614},{"id":"https://openalex.org/C99508421","wikidata":"https://www.wikidata.org/wiki/Q2678675","display_name":"Physical medicine and rehabilitation","level":1,"score":0.2946910858154297},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2569255828857422},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.19417494535446167},{"id":"https://openalex.org/C42219234","wikidata":"https://www.wikidata.org/wiki/Q131130","display_name":"Anesthesia","level":1,"score":0.1455165445804596}],"mesh":[],"locations_count":6,"locations":[{"id":"doi:10.1159/000363687","doi":"https://doi.org/10.1159/000363687","is_oa":true,"landing_page_url":"https://doi.org/10.1159/000363687","pdf_url":null,"source":{"id":"https://openalex.org/S24617540","display_name":"Case Reports in Neurology","issn_l":"1662-680X","issn":["1662-680X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Neurology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4067726","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4067726/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4067726/pdf/","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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Rep Neurol","raw_type":"Text"},{"id":"pmh:oai:europepmc.org:3052884","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4067726","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:24987362","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24987362","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":"Case reports in neurology","raw_type":"Case Reports"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.775.3365","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.775.3365","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/af/a3/crn-0006-0176.PMC4067726.pdf","raw_type":"text"},{"id":"pmh:oai:doaj.org/article:c0246e9943534fb395dda65032a8a31d","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/c0246e9943534fb395dda65032a8a31d","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Case Reports in Neurology, Vol 6, Iss 2, Pp 176-180 (2014)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1159/000363687","doi":"https://doi.org/10.1159/000363687","is_oa":true,"landing_page_url":"https://doi.org/10.1159/000363687","pdf_url":null,"source":{"id":"https://openalex.org/S24617540","display_name":"Case Reports in Neurology","issn_l":"1662-680X","issn":["1662-680X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Neurology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G4722504987","display_name":"Identification of NIID causative gene with next generation sequencer","funder_award_id":"24591257","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2017153256.pdf","grobid_xml":"https://content.openalex.org/works/W2017153256.grobid-xml"},"referenced_works_count":14,"referenced_works":["https://openalex.org/W1976120013","https://openalex.org/W1999839269","https://openalex.org/W2006745000","https://openalex.org/W2032330693","https://openalex.org/W2056676315","https://openalex.org/W2061696959","https://openalex.org/W2089777452","https://openalex.org/W2091791360","https://openalex.org/W2107609633","https://openalex.org/W2108329207","https://openalex.org/W2108941674","https://openalex.org/W2155701200","https://openalex.org/W2909939532","https://openalex.org/W3149971700"],"related_works":["https://openalex.org/W4392369678","https://openalex.org/W4385856855","https://openalex.org/W4309402779","https://openalex.org/W6885131869","https://openalex.org/W4210277822","https://openalex.org/W4384940870","https://openalex.org/W3215363751","https://openalex.org/W4366725375","https://openalex.org/W7133492792","https://openalex.org/W4407229465"],"abstract_inverted_index":{"Neuronal":[0],"intranuclear":[1],"inclusion":[2],"disease":[3,9,75],"(NIID)":[4],"is":[5,91],"a":[6],"rare":[7],"neurodegenerative":[8],"with":[10,18],"various":[11],"neurological":[12],"symptoms.":[13],"A":[14,51],"73-year-old":[15],"woman":[16],"presented":[17],"slowly":[19],"progressive":[20],"tremor":[21,27,63,89,110],"in":[22,64,73,93,98,104],"both":[23],"hands.":[24],"The":[25,62],"resting":[26,109],"was":[28,55,67],"enhanced":[29],"by":[30],"cognitive":[31],"activity":[32],"and":[33,44,79],"walking.":[34],"However,":[35],"there":[36],"were":[37,46],"no":[38],"other":[39],"signs":[40],"of":[41,53,108],"parkinsonism.":[42],"Levodopa":[43],"trihexyphenidyl":[45],"ineffective":[47],"against":[48],"the":[49,80,105],"tremor.":[50],"diagnosis":[52,107],"NIID":[54,85,100],"made":[56],"based":[57],"on":[58],"skin":[59],"biopsy":[60],"findings.":[61],"this":[65],"case":[66,82],"very":[68],"similar":[69,92,111],"to":[70,95,112],"that":[71,84,90,96],"seen":[72,97],"Parkinson's":[74],"(PD).":[76],"Previous":[77],"reports":[78],"present":[81],"indicate":[83],"patients":[86],"can":[87],"develop":[88],"character":[94],"PD.":[99,113],"should":[101],"be":[102],"considered":[103],"differential":[106]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":5},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":3}],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2016-06-24T00:00:00"}
