{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T14:49:03Z","timestamp":1790434143810,"version":"4.1.0"},"reference-count":58,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,12,19]],"date-time":"2017-12-19T00:00:00Z","timestamp":1513641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institute of Health","award":["AR050236"],"award-info":[{"award-number":["AR050236"]}]},{"name":"UC Irvine ICTS (Institute of Clinical Translational Science)"},{"DOI":"10.13039\/100006108","name":"NCATS","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"crossref"}]},{"name":"NIH"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:p>Mutations in valosin\u2010containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic differences in this disorder could be explained by the specific gene mutations. We therefore studied 231 individuals (118 males and 113 females) from 36 families carrying 15 different VCP mutations. We analyzed the correlation between the different mutations and prevalence, age of onset and severity of myopathy, Paget's disease of bone (PDB), and frontotemporal dementia (FTD), and other comorbidities. Myopathy, PDB and FTD was present in 90%, 42% and 30% of the patients, respectively, beginning at an average age of 43, 41, and 56 years, respectively. Approximately 9% of patients with VCP mutations had an amyotrophic lateral sclerosis (ALS) phenotype, 4% had been diagnosed with Parkinson's disease (PD), and 2% had been diagnosed with Alzheimer's disease (AD). Large interfamilial and intrafamilial variation made establishing correlations difficult. We did not find a correlation between the mutation type and the incidence of any of the clinical features associated with VCP disease, except for the absence of PDB with the R159C mutation in our cohort and R159C having a later age of onset of myopathy compared with other molecular subtypes.<\/jats:p>","DOI":"10.1111\/cge.13095","type":"journal-article","created":{"date-parts":[[2017,7,10]],"date-time":"2017-07-10T13:26:39Z","timestamp":1499693199000},"page":"119-125","source":"Crossref","is-referenced-by-count":149,"title":["Genotype\u2010phenotype study in patients with valosin\u2010containing protein mutations associated with multisystem proteinopathy"],"prefix":"10.1111","volume":"93","author":[{"given":"E.","family":"Al\u2010Obeidi","sequence":"first","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California, Irvine  Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Al\u2010Tahan","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California, Irvine  Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Surampalli","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California, Irvine  Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Goyal","sequence":"additional","affiliation":[{"name":"Neuromuscular Program, Department of Neurology University of California, Irvine  Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.K.","family":"Wang","sequence":"additional","affiliation":[{"name":"Neuromuscular Program, Department of Neurology University of California, Irvine  Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Hermann","sequence":"additional","affiliation":[{"name":"Department of Neurology Technische Universit\u00e4t Dresden, and German Center for Neurodegenerative Diseases (DZNE), Research Side Dresden  01307 Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Omizo","sequence":"additional","affiliation":[{"name":"Deschutes Osteoporosis Center  Bend Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Kentucky Medical School  Lexington Kentucky"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Mozaffar","sequence":"additional","affiliation":[{"name":"Neuromuscular Program, Department of Neurology University of California, Irvine  Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1567-4449","authenticated-orcid":false,"given":"V.","family":"Kimonis","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California, Irvine  Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1332"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12000"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-011-9627-y"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2007.131334"},{"key":"e_1_2_6_6_1","unstructured":"SingerF.Paget's Disease of Bone. In: De Groot LJ B\u2010PP Chrousos G et al. ed. Endotext Vol 2016 MDText.com Inc. 2016.http:\/\/www.ncbi.nlm.nih.gov\/. Accessed by 19 May 2017."},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)00461-4"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-200606000-00005"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2007.070182"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/nen.0b013e31803020b9"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.2741\/2727"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2012.03831.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq137"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31802d830d"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2010.11.036"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.42"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu224"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31862"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.302778"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(85)80021-1"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.2.626-634.2002"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00595-5"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1201-1086"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/jb\/mvi028"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81128-9"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00815-8"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.114.3.443"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.093831"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(95)00050-C"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200007000-00006"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3256"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0100-879X2011007500028"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00887.x"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.wad.0000183081.76820.5a"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2011.07.006"},{"key":"e_1_2_6_36_1","first-page":"239167","article-title":"Rare manifestation of a c.290 C>T, p.Gly97Glu VCP mutation","volume":"2015","author":"Jerath NU","year":"2015","journal-title":"Case Rep Genet"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182929fc3"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(03)00214-3"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-008-0660-9"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/414652a"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23522"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2007.08.009"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318275963b"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21225"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20890"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2012.04.005"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.02.012"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000180407.15369.92"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b389d9"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1159\/000356481"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101795"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200908115"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-5966-4"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.01.021"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.376"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2011.03575.x"},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2012.09.012"},{"key":"e_1_2_6_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.03.002"},{"key":"e_1_2_6_59_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.148676"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13095","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13095","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,30]],"date-time":"2023-09-30T01:58:32Z","timestamp":1696039112000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13095"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,19]]},"references-count":58,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1111\/cge.13095"],"URL":"https:\/\/doi.org\/10.1111\/cge.13095","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,19]]}}}