{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T04:48:52Z","timestamp":1782103732552,"version":"3.54.5"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T00:00:00Z","timestamp":1773273600000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Biallelic pathogenic variants in MCM3AP, encoding the germinal center\u2013associated nuclear protein (GANP), have been linked to autosomal recessive peripheral neuropathies variably accompanied by cognitive impairment and multisystem involvement. To date, anterior horn cell involvement has not been documented in association with MCM3AP\u2010related disorders.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To describe a patient with biallelic MCM3AP variants presenting with a motor neuronopathy phenotype and to provide the first whole\u2010body muscle MRI characterization associated with this gene.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and Results<\/jats:title>\n                    <jats:p>A 53\u2010year\u2010old woman born to non\u2010consanguineous parents presented with early\u2010onset motor neuronopathy and lifelong learning difficulties. Neurological examination revealed generalized areflexia and widespread fasciculations without sensory abnormalities. Electroneuromyography demonstrated diffuse mixed acute\u2010on\u2010chronic denervation process. Whole\u2010body muscle MRI showed a selective non\u2013length\u2010dependent pattern of fatty infiltration. Whole\u2010exome sequencing identified two likely pathogenic heterozygous variants in the MCM3AP gene.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Standard Protocol Approvals, Registrations, and Patient Consents<\/jats:title>\n                    <jats:p>According to the policies of our institution, single\u2010patient case reports do not require review or approval by the institutional ethics committee. Written informed consent for participation and for publication of clinical information, photographs, electrophysiological data, and muscle MRI images was obtained from the patient. No clinical trial registration was applicable.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case extends the phenotypic spectrum of MCM3AP\u2010related disorders to include a slowly progressive, non\u2010syndromic motor neuronopathy with electrophysiological evidence of active denervation and distinctive MRI findings. These observations highlight the hidden boundaries between hereditary motor neuropathies and anterior horn cell diseases, emphasizing the need for integrated clinical, neurophysiological, and genetic evaluation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jns.70112","type":"journal-article","created":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:15:19Z","timestamp":1773360919000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Motor Neuronopathy With Widespread Fasciculations in\n                    <scp>MCM3AP<\/scp>\n                    \u2010Related Disorder: Clinical and Muscle\n                    <scp>MRI<\/scp>\n                    Insights"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3187-8794","authenticated-orcid":false,"given":"Ana Fl\u00e1via Andrade","family":"Lemos","sequence":"first","affiliation":[{"name":"Department of Neurosciences and Behavior Sciences. School of Medicine of Ribeir\u00e3o Preto University of S\u00e3o Paulo  Ribeir\u00e3o Preto Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4325-3414","authenticated-orcid":false,"given":"Rodrigo Siqueira Soares","family":"Frezatti","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Behavior Sciences. School of Medicine of Ribeir\u00e3o Preto University of S\u00e3o Paulo  Ribeir\u00e3o Preto Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f4nio Carlos","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Behavior Sciences. School of Medicine of Ribeir\u00e3o Preto University of S\u00e3o Paulo  Ribeir\u00e3o Preto Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1485-3771","authenticated-orcid":false,"given":"Pedro Jos\u00e9","family":"Tomaselli","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Behavior Sciences. School of Medicine of Ribeir\u00e3o Preto University of S\u00e3o Paulo  Ribeir\u00e3o Preto Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4589-2749","authenticated-orcid":false,"suffix":"Jr","given":"Wilson","family":"Marques","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Behavior Sciences. School of Medicine of Ribeir\u00e3o Preto University of S\u00e3o Paulo  Ribeir\u00e3o Preto Brazil"},{"name":"Instituto Nacional de Ci\u00eancia e Tecnologia Em Sa\u00fade Mental Digital. Chamada CNPq\/SECTICS\/CAPES\/FAPs N\u00b0 46\/2024  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1405644"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26622"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12377"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp\u20102011\u2010300952"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200087"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2017.03.018"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cnp.2023.12.003"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.10.001"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv411"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac452"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.11.003"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.35.22177"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2010.12.035"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378\u20101119(00)00244\u20108"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa051"},{"issue":"4","key":"e_1_2_6_18_1","first-page":"989","article-title":"Analysis of Muscle MRI in VCP\u2010Mediated Disease Reveals Characteristic Patterns","volume":"146","author":"Ruggiero C.","year":"2023","journal-title":"Brain"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70112","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jns.70112","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T04:20:29Z","timestamp":1782102029000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.70112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1111\/jns.70112"],"URL":"https:\/\/doi.org\/10.1111\/jns.70112","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"2026-01-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70112"}}