{"id":"https://openalex.org/W4389409596","doi":"https://doi.org/10.1212/wnl.84.14_supplement.p7.050","title":"Spectrum of Valosin Containing Protein ( VCP )-opathy: A Case Series (P7.050)","display_name":"Spectrum of Valosin Containing Protein ( VCP )-opathy: A Case Series (P7.050)","publication_year":2015,"publication_date":"2015-04-06","ids":{"openalex":"https://openalex.org/W4389409596","doi":"https://doi.org/10.1212/wnl.84.14_supplement.p7.050"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.84.14_supplement.p7.050","doi":"https://doi.org/10.1212/wnl.84.14_supplement.p7.050","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.84.14_supplement.p7.050","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"],"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/A5086705664","display_name":"Mohamed Kazamel","orcid":"https://orcid.org/0000-0002-1261-2798","observed_orcids":["https://orcid.org/0000-0002-1261-2798"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mohamed Kazamel","raw_affiliation_strings":["Mayo School of Graduate Medical Education, Rochester Rochester MN United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo School of Graduate Medical Education, Rochester Rochester MN United States","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083343176","display_name":"Eric J. Sorenson","orcid":"https://orcid.org/0009-0000-7773-7754","observed_orcids":["https://orcid.org/0009-0000-7773-7754"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eric Sorenson","raw_affiliation_strings":["Mayo Clinic Rochester MN United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Rochester MN United States","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111680156","display_name":"Kathleen M. McEvoy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathleen McEvoy","raw_affiliation_strings":["Mayo Clinic Rochester MN United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Rochester MN United States","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101535860","display_name":"Andrew G. Engel","orcid":"https://orcid.org/0000-0001-8029-5010","observed_orcids":["https://orcid.org/0000-0001-8029-5010"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew Engel","raw_affiliation_strings":["Mayo Clinic Rochester MN United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Rochester MN United States","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052702012","display_name":"Lyell K. Jones","orcid":"https://orcid.org/0000-0002-5851-8705","observed_orcids":["https://orcid.org/0000-0002-5851-8705"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lyell Jones","raw_affiliation_strings":["Mayo Clinic Rochester MN United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Rochester MN United States","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056181204","display_name":"Andrea N. Leep Hunderfund","orcid":"https://orcid.org/0000-0002-7784-504X","observed_orcids":["https://orcid.org/0000-0002-7784-504X"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrea Leep Hunderfund","raw_affiliation_strings":["Mayo Clinic Rochester MN United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Rochester MN United States","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035911747","display_name":"Michelle L. Mauermann","orcid":"https://orcid.org/0000-0001-9619-7802","observed_orcids":["https://orcid.org/0000-0001-9619-7802"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michelle Mauermann","raw_affiliation_strings":["Mayo Clinic Rochester MN United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Rochester MN United States","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075451524","display_name":"Margherita Milone","orcid":"https://orcid.org/0000-0002-4338-9007","observed_orcids":["https://orcid.org/0000-0002-4338-9007"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Margherita Milone","raw_affiliation_strings":["Mayo Clinic Rochester MN United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Rochester MN United States","institution_ids":["https://openalex.org/I1330342723"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I1330342723"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.30202782,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"84","issue":"14_supplement","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.37700000405311584,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.37700000405311584,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":0.28220000863075256,"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":0.17710000276565552,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"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/valosin-containing-protein","display_name":"VCP","score":0.8859999775886536},{"id":"https://openalex.org/keywords/hereditary-inclusion-body-myopathy","display_name":"hereditary inclusion body myopathy","score":0.9829999804496765},{"id":"https://openalex.org/keywords/paget-s-disease-of-bone","display_name":"Paget's disease of bone","score":0.9300000071525574},{"id":"https://openalex.org/keywords/frontotemporal-dementia","display_name":"frontotemporal dementia","score":1.0},{"id":"https://openalex.org/keywords/limb-girdle-weakness","display_name":"limb-girdle weakness","score":0.8690000176429749},{"id":"https://openalex.org/keywords/peripheral-neuropathy","display_name":"peripheral neuropathy","score":0.7630000114440918},{"id":"https://openalex.org/keywords/motor-unit-action-potentials","display_name":"motor unit action potentials","score":0.5950000286102295},{"id":"https://openalex.org/keywords/denervation-reinnervation","display_name":"denervation-reinnervation","score":0.6430000066757202},{"id":"https://openalex.org/keywords/rimmed-vacuoles","display_name":"rimmed vacuoles","score":0.8560000061988831},{"id":"https://openalex.org/keywords/congenital-myopathy","display_name":"congenital myopathy","score":0.4320000112056732},{"id":"https://openalex.org/keywords/genotype-phenotype-spectrum","display_name":"genotype-phenotype spectrum","score":0.6179999709129333}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5243580341339111},{"id":"https://openalex.org/C143724316","wikidata":"https://www.wikidata.org/wiki/Q312468","display_name":"Series (stratigraphy)","level":2,"score":0.46672478318214417},{"id":"https://openalex.org/C3020442560","wikidata":"https://www.wikidata.org/wiki/Q4971815","display_name":"Broad spectrum","level":2,"score":0.4272475838661194},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.18678462505340576},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.1780090630054474},{"id":"https://openalex.org/C21951064","wikidata":"https://www.wikidata.org/wiki/Q899212","display_name":"Combinatorial chemistry","level":1,"score":0.04412302374839783},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1212/wnl.84.14_supplement.p7.050","doi":"https://doi.org/10.1212/wnl.84.14_supplement.p7.050","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.84.14_supplement.p7.050","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"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2173741570","https://openalex.org/W2902058732","https://openalex.org/W4389446979","https://openalex.org/W2005084766","https://openalex.org/W2431829380","https://openalex.org/W7164131371","https://openalex.org/W7215662764","https://openalex.org/W4387311336","https://openalex.org/W2088282628","https://openalex.org/W1488132451"],"abstract_inverted_index":{"OBJECTIVE:":[0],"To":[1],"describe":[2],"the":[3,81,89,96,278],"phenotype":[4],"of":[5,34,53,69,92,220,223,231,257,271,280,292],"six":[6],"VCP-opathy":[7,252],"patients":[8,72,191],"from":[9],"four":[10],"families.":[11],"BACKGROUND:":[12],"VCP":[13],"mutations":[14],"cause":[15,44],"hereditary":[16],"inclusion":[17],"body":[18],"myopathy":[19],"and":[20,24,37,48,57,66,91,128,142,149,169,176,227,267],"can":[21,42,262,273],"affect":[22],"bone":[23,35],"brain":[25],"tissue":[26],"with":[27,74,254],"variable":[28],"penetrance":[29],"leading":[30],"to":[31,117,155],"Paget":[32],"disease":[33,47],"(PDB)":[36],"frontotemporal":[38],"dementia":[39],"(FTD).":[40],"They":[41],"also":[43,235],"motor":[45,157,283],"neuron":[46,284],"peripheral":[49,195],"neuropathy.":[50,196],"DESIGN/METHODS:":[51],"Review":[52],"clinical,":[54],"serological,":[55],"electrophysiological,":[56],"myopathological":[58],"findings.":[59],"RESULTS:":[60],"Muscle":[61,197],"weakness":[62,78,85,105],"manifested":[63],"between":[64],"40":[65],"53":[67],"years":[68],"age.":[70],"All":[71],"presented":[73],"asymmetric":[75],"limb":[76],"girdle":[77],"involving":[79],"mainly":[80],"upper":[82,90,168],"extremities.":[83,98],"Distal":[84],"was":[86,100,115],"mild":[87],"in":[88,95,124,147,166,173,180,187,207,237,248,289],"various":[93,232],"severities":[94,233],"lower":[97,170,282],"There":[99],"no":[101],"facial":[102],"or":[103],"axial":[104],"at":[106,137],"initial":[107],"presentation.":[108],"None":[109],"had":[110,133,192],"cardiac":[111],"involvement.":[112,285],"One":[113],"patient":[114,121,132],"found":[116],"have":[118],"PDB;":[119],"another":[120],"developed":[122],"FTD":[123],"his":[125],"late":[126],"50s":[127],"a":[129,255,290],"third":[130,291],"unrelated":[131],"impaired":[134],"verbal":[135],"ability":[136],"age":[138],"47.":[139],"Creatine":[140],"kinase":[141],"alkaline":[143],"phosphatase":[144],"were":[145,185,204,234,246],"elevated":[146],"two":[148],"three":[150,188],"subjects,":[151],"respectively.":[152],"In":[153],"addition":[154],"myopathic":[156],"unit":[158],"potentials":[159,179],"(MUPs),":[160],"Electromyographic":[161],"studies":[162],"showed":[163,199],"neurogenic":[164],"MUPs":[165],"proximal":[167],"extremity":[171],"muscles":[172],"five":[174],"patients,":[175],"diffuse":[177],"fibrillation":[178],"all":[181,238],"patients.":[182],"Myotonic":[183],"discharges":[184],"recorded":[186],"subjects.":[189],"Two":[190],"co-existing":[193,281],"axonal":[194],"biopsy":[198],"few":[200],"rimmed":[201],"vacuoles,":[202],"which":[203],"extremely":[205],"infrequent":[206],"one":[208,240,249],"biopsy,":[209],"muscle":[210],"fiber":[211,228],"size":[212],"variability,":[213],"rare":[214],"regenerating":[215],"fibers;":[216],"congophilic":[217],"inclusions,":[218],"groups":[219],"atrophic":[221],"fibers":[222],"ether":[224],"histochemical":[225],"type":[226,229],"grouping":[230],"present":[236],"but":[239],"biopsy.":[241,250],"Sparse":[242],"endomysial":[243],"inflammatory":[244],"cells":[245],"noticed":[247],"CONCLUSIONS:":[251],"manifests":[253],"spectrum":[256],"clinical":[258],"presentations.":[259],"Vacuolar":[260],"changes":[261,269],"be":[263,274],"very":[264,275],"infrequent;":[265],"electrophysiological":[266],"histological":[268],"suggestive":[270],"denervation/reinnervation":[272],"prominent":[276],"raising":[277],"question":[279],"Peripheral":[286],"neuropathy":[287],"occurred":[288],"our":[293],"cases.":[294]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2023-12-07T00:00:00"}