{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T19:17:35Z","timestamp":1789154255285,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T00:00:00Z","timestamp":1762905600000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2025,11]]},"abstract":"ABSTRACT<\/jats:title>\n \n Introduction<\/jats:title>\n \n The\n superoxide dismutase type 1<\/jats:italic>\n (\n SOD1<\/jats:italic>\n ) gene has been implicated in both sporadic and familial forms of amyotrophic lateral sclerosis (\n ALS<\/jats:italic>\n ). We report four ALS cases carrying pathogenic or likely pathogenic\n SOD1<\/jats:italic>\n variants, characterized by albuminocytologic dissociation and nerve root enhancement.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We present the results of the diagnostic work\u2010up, including lumbosacral magnetic resonance imaging (MRI) with gadolinium, electromyography (EMG), and cerebrospinal fluid (CSF) analysis. We also assessed the relationship between the albumin quotient (Q\u2010Alb)\u2014an index of blood\u2013brain barrier (BBB) dysfunction\u2014and the disease progression rate (DPR) in 12\n SOD1<\/jats:italic>\n \u2010linked ALS patients (including the four described above) and in a cohort of 137 non\u2010genetic ALS (NgALS) cases.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The four patients presented with spinal onset (progressive lower limb weakness). The EMG ultimately showed diffuse subacute neurogenic changes, while CSF analysis revealed albuminocytologic dissociation. Lumbosacral MRI demonstrated contrast enhancement of the cauda equina roots. Immunomodulatory treatment was administered due to suspected immune\u2010mediated neuropathy, but all patients continued to deteriorate. Genetic testing revealed pathogenic or likely pathogenic variants in the\n SOD1<\/jats:italic>\n gene, confirming the diagnosis of ALS. CSF Q\u2010Alb and protein levels were similarly distributed between\n SOD1<\/jats:italic>\n \u2010linked and NgALS patients. Q\u2010Alb and CSF protein levels showed a positive correlation with DPR in\n SOD1<\/jats:italic>\n \u2010linked patients (Rho\u2009=\u20090.625,\n p<\/jats:italic>\n \u2009=\u20090.03; Rho\u2009=\u20090.755,\n p<\/jats:italic>\n \u2009=\u20090.005), but not in NgALS patients.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Albuminocytologic dissociation and nerve root enhancement may occur in\n SOD1<\/jats:italic>\n \u2010related ALS, expanding the spectrum of atypical ALS phenotypes.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/ene.70434","type":"journal-article","created":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T06:49:57Z","timestamp":1763016597000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Nerve Root Enhancement and Elevated Cerebrospinal Fluid Protein in Four Patients With\n \n SOD1<\/i>\n <\/scp>\n \u2010Linked Amyotrophic Lateral Sclerosis"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3607-2394","authenticated-orcid":false,"given":"Veria","family":"Vacchiano","sequence":"first","affiliation":[{"name":"UOC Clinica Neurologica IRCCS Istituto Delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cosmanna","family":"Ragucci","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Biomediche e Neuromotorie Universit\u00e0 di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Rizzo","sequence":"additional","affiliation":[{"name":"UOC Clinica Neurologica IRCCS Istituto Delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vitantonio","family":"Di Stasi","sequence":"additional","affiliation":[{"name":"UOC Clinica Neurologica IRCCS Istituto Delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Pastorelli","sequence":"additional","affiliation":[{"name":"UOC Neurologia IRCCS Istituto Delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Rinaldi","sequence":"additional","affiliation":[{"name":"UOC Clinica Neurologica Rete Neurologica Metropolitana IRCCS Istituto Delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Provini","sequence":"additional","affiliation":[{"name":"UOC Clinica Neurologica Rete Neurologica Metropolitana IRCCS Istituto Delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Postiglione","sequence":"additional","affiliation":[{"name":"Department of Neuroscience S. Maria Delle Croci Hospital Ravenna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Fiorentino","sequence":"additional","affiliation":[{"name":"Programma di Neurogenetica IRCCS Istituto Delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Carelli","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Biomediche e Neuromotorie Universit\u00e0 di Bologna Bologna Italy"},{"name":"Programma di Neurogenetica IRCCS Istituto Delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocco","family":"Liguori","sequence":"additional","affiliation":[{"name":"UOC Clinica Neurologica IRCCS Istituto Delle Scienze Neurologiche di Bologna Bologna Italy"},{"name":"Dipartimento di Scienze Biomediche e Neuromotorie Universit\u00e0 di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,11,12]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010021\u201003891\u20108"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/0271678X231153281"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2010.235952"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14959"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1993.00540050041012"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072\u2010023\u201006604\u20103"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2021.656456"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms231911063"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010012\u20101039\u20108"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2017.01005"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.3109\/17482960802642161"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/17482960903234728"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/ncn3.73"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2022.311"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678421.2025.2488296"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.70434","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T07:01:53Z","timestamp":1764313313000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.70434"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1111\/ene.70434"],"URL":"https:\/\/doi.org\/10.1111\/ene.70434","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"2025-02-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70434"}}