{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:02:36Z","timestamp":1779930156627,"version":"3.53.1"},"reference-count":25,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T00:00:00Z","timestamp":1760918400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministry of Health of the Czech Republic","doi-asserted-by":"publisher","award":["NW24-04-00349"],"award-info":[{"award-number":["NW24-04-00349"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["388422"],"award-info":[{"award-number":["388422"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["CZ.02.1.01\/0.0\/0.0\/16_026\/0008448"],"award-info":[{"award-number":["CZ.02.1.01\/0.0\/0.0\/16_026\/0008448"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1016\/j.ejmg.2025.105055","type":"journal-article","created":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T07:42:11Z","timestamp":1761982931000},"page":"105055","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism"],"prefix":"10.1016","volume":"78","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-0543-4362","authenticated-orcid":false,"given":"Barbora","family":"Lauerova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radim","family":"Mazanec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8706-137X","authenticated-orcid":false,"given":"Katja","family":"Eggerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0572-7239","authenticated-orcid":false,"given":"Dana","family":"Safka Brozkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8042-4361","authenticated-orcid":false,"given":"Annette","family":"Lischka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4718-8760","authenticated-orcid":false,"given":"Pavel","family":"Seeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikulas","family":"Mikula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1726-5868","authenticated-orcid":false,"given":"Petra","family":"Lassuthova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"11","key":"10.1016\/j.ejmg.2025.105055_bib1","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1002\/humu.23626","article-title":"Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion","volume":"39","author":"Abou Tayoun","year":"2018","journal-title":"Hum. Mutat."},{"issue":"12","key":"10.1016\/j.ejmg.2025.105055_bib2","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1212\/WNL.0000000000000241","article-title":"Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria","volume":"82","author":"Baulac","year":"2014","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.ejmg.2025.105055_bib3","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1007\/s00415-023-12076-4","article-title":"Clinical and genetic features of patients suffering from CMT4J","volume":"271","author":"Beloribi-Djefaflia","year":"2024","journal-title":"J. Neurol."},{"issue":"5","key":"10.1016\/j.ejmg.2025.105055_bib4","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/j.ajhg.2013.03.020","article-title":"Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase","volume":"92","author":"Campeau","year":"2013","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2025.105055_bib6","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.ajhg.2008.12.010","article-title":"Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS","volume":"84","author":"Chow","year":"2009","journal-title":"Am. J. Hum. Genet."},{"issue":"7149","key":"10.1016\/j.ejmg.2025.105055_bib5","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature05876","article-title":"Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J","volume":"448","author":"Chow","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2025.105055_bib7","author":"Fokkema IF"},{"issue":"D1","key":"10.1016\/j.ejmg.2025.105055_bib8","doi-asserted-by":"crossref","first-page":"D1333","DOI":"10.1093\/nar\/gkad1005","article-title":"The Human Phenotype Ontology in 2024: phenotypes around the world","volume":"52","author":"Gargano","year":"2024","journal-title":"Nucleic Acids Res."},{"issue":"4","key":"10.1016\/j.ejmg.2025.105055_bib9","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1002\/ana.25198","article-title":"Myelin abnormality in charcot-marie-tooth type 4J recapitulates features of acquired demyelination","volume":"83","author":"Hu","year":"2018","journal-title":"Ann. Neurol."},{"issue":"47","key":"10.1016\/j.ejmg.2025.105055_bib11","doi-asserted-by":"crossref","first-page":"28515","DOI":"10.1074\/jbc.M115.669929","article-title":"The protein complex of neurodegeneration-related phosphoinositide phosphatase Sac3 and ArPIKfyve binds the lewy body-associated Synphilin-1, preventing its aggregation","volume":"290","author":"Ikonomov","year":"2015","journal-title":"J. Biol. Chem."},{"issue":"35","key":"10.1016\/j.ejmg.2025.105055_bib10","doi-asserted-by":"crossref","first-page":"26760","DOI":"10.1074\/jbc.C110.154658","article-title":"ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing charcot-marie-tooth 4J disorder","volume":"285","author":"Ikonomov","year":"2010","journal-title":"J. Biol. Chem."},{"issue":"8","key":"10.1016\/j.ejmg.2025.105055_bib12","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1111\/j.1460-9568.2011.07651.x","article-title":"Distinct pathogenic processes between Fig4-deficient motor and sensory neurons","volume":"33","author":"Katona","year":"2011","journal-title":"Eur. J. Neurosci."},{"issue":"1","key":"10.1016\/j.ejmg.2025.105055_bib13","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/neup.12056","article-title":"ALS-associated protein FIG4 is localized in Pick and Lewy bodies, and also neuronal nuclear inclusions, in polyglutamine and intranuclear inclusion body diseases","volume":"34","author":"Kon","year":"2014","journal-title":"Neuropathology"},{"issue":"2","key":"10.1016\/j.ejmg.2025.105055_bib14","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/acn3.51175","article-title":"Clinical features of homozygous FIG4-p.Ile41Thr charcot-marie-tooth 4J patients","volume":"8","author":"Lafontaine","year":"2021","journal-title":"Ann Clin Transl Neurol"},{"issue":"1","key":"10.1016\/j.ejmg.2025.105055_bib15","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1186\/s13023-016-0500-5","article-title":"Improving diagnosis of inherited peripheral neuropathies through gene panel analysis","volume":"11","author":"Lassuthova","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"issue":"5","key":"10.1016\/j.ejmg.2025.105055_bib17","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1002\/humu.23720","article-title":"Cerebral hypomyelination associated with biallelic variants of FIG4","volume":"40","author":"Lenk","year":"2019","journal-title":"Hum. Mutat."},{"issue":"6","key":"10.1016\/j.ejmg.2025.105055_bib16","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002104","article-title":"Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J","volume":"7","author":"Lenk","year":"2011","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ejmg.2025.105055_bib18","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.689892","article-title":"Splicing in the diagnosis of rare disease: advances and challenges","volume":"12","author":"Lord","year":"2021","journal-title":"Front. Genet."},{"issue":"Pt 7","key":"10.1016\/j.ejmg.2025.105055_bib19","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1093\/brain\/awr148","article-title":"Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG4","volume":"134","author":"Nicholson","year":"2011","journal-title":"Brain"},{"issue":"2","key":"10.1016\/j.ejmg.2025.105055_bib20","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1002\/acn3.525","article-title":"Charcot Marie Tooth disease type 4J with complex central nervous system features","volume":"5","author":"Orengo","year":"2018","journal-title":"Ann Clin Transl Neurol"},{"key":"10.1016\/j.ejmg.2025.105055_bib21","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.parkreldis.2020.10.011","article-title":"CMT4J, parkinsonism and a new FIG4 mutation","volume":"81","author":"Posada","year":"2020","journal-title":"Parkinsonism Relat. Disorders"},{"issue":"11","key":"10.1016\/j.ejmg.2025.105055_bib22","doi-asserted-by":"crossref","DOI":"10.1172\/JCI137159","article-title":"AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model","volume":"131","author":"Presa","year":"2021","journal-title":"J. Clin. Investig."},{"issue":"Pt 8","key":"10.1016\/j.ejmg.2025.105055_bib23","doi-asserted-by":"crossref","first-page":"1990","DOI":"10.1093\/brain\/awn114","article-title":"Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration","volume":"131","author":"Zhang","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.ejmg.2025.105055_bib24","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.parkreldis.2020.03.021","article-title":"FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varon syndrome","volume":"74","author":"Zimmermann","year":"2020","journal-title":"Parkinsonism Relat. Disorders"},{"issue":"17","key":"10.1016\/j.ejmg.2025.105055_bib25","doi-asserted-by":"crossref","first-page":"6801","DOI":"10.1523\/JNEUROSCI.4442-14.2015","article-title":"Reactivation of lysosomal Ca2+ efflux rescues abnormal lysosomal storage in FIG4-Deficient cells","volume":"35","author":"Zou","year":"2015","journal-title":"J. Neurosci."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972122500062X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972122500062X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T12:30:25Z","timestamp":1773318625000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972122500062X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":25,"alternative-id":["S176972122500062X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2025.105055","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2025.105055","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"105055"}}