{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T03:05:29Z","timestamp":1777950329142,"version":"3.51.4"},"reference-count":55,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2024,9,23]],"date-time":"2024-09-23T00:00:00Z","timestamp":1727049600000},"content-version":"vor","delay-in-days":266,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["GR-2018\u201312365358"],"award-info":[{"award-number":["GR-2018\u201312365358"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP19002"],"award-info":[{"award-number":["GGP19002"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The MFN2 gene encodes mitofusin 2, a key protein for mitochondrial fusion, transport, maintenance and cell communication. MFN2 mutations are primarily linked to Charcot\u2013Marie\u2013Tooth disease type 2A. However, a few cases of amyotrophic lateral sclerosis and amyotrophic lateral sclerosis\/frontotemporal dementia phenotypes with concomitant MFN2 mutations have been previously reported. This study examines the clinical and genetic characteristics of an Italian cohort of amyotrophic lateral sclerosis patients with rare, non-synonymous MFN2 mutations. A group of patients (n = 385) diagnosed with amyotrophic lateral sclerosis at our Neurology Units between 2008 and 2023 underwent comprehensive molecular testing, including MFN2. After excluding pathogenic mutations in the main amyotrophic lateral sclerosis\u2013related genes (i.e. C9orf72, SOD1, FUS and TARDBP), MFN2 variants were classified based on the American College of Medical Genetics and Genomics guidelines, and demographic and clinical data of MFN2-mutated patients were retrieved. We identified 12 rare, heterozygous, non-synonymous MFN2 variants in 19 individuals (4.9%). Eight of these variants, carried by nine patients (2.3%), were either pathogenic, likely pathogenic or variants of unknown significance according to the American College of Medical Genetics and Genomics guidelines. Among these patients, four exhibited a familial pattern of inheritance. The observed phenotypes included classic and bulbar amyotrophic lateral sclerosis, amyotrophic lateral sclerosis\/frontotemporal dementia, flail arm, flail leg and progressive muscular atrophy. Median survival after disease onset was extremely variable, ranging from less than 1 to 13 years. This study investigates the prevalence of rare, non-synonymous MFN2 variants within an Italian cohort of amyotrophic lateral sclerosis patients, who have been extensively investigated, enhancing our knowledge of the underlying phenotypic spectrum. Further research is needed to understand whether MFN2 mutations contribute to motor neuron disease and to what extent. Improving our knowledge regarding the genetic basis of amyotrophic lateral sclerosis is crucial both in a diagnostic and therapeutic perspective.<\/jats:p>","DOI":"10.1093\/braincomms\/fcae312","type":"journal-article","created":{"date-parts":[[2024,9,23]],"date-time":"2024-09-23T10:34:32Z","timestamp":1727087672000},"source":"Crossref","is-referenced-by-count":7,"title":["Investigating the prevalence of <i>MFN2<\/i> mutations in amyotrophic lateral sclerosis: insights from an Italian cohort"],"prefix":"10.1093","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0797-8282","authenticated-orcid":false,"given":"Elena","family":"Abati","sequence":"first","affiliation":[{"name":"Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Universit\u00e0 degli Studi di Milano , 20122 Milan ,","place":["Italy"]},{"name":"Neurology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , 20122 Milan ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delia","family":"Gagliardi","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Universit\u00e0 degli Studi di Milano , 20122 Milan ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arianna","family":"Manini","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Universit\u00e0 degli Studi di Milano , 20122 Milan ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Del Bo","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Universit\u00e0 degli Studi di Milano , 20122 Milan ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dario","family":"Ronchi","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Universit\u00e0 degli Studi di Milano , 20122 Milan ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megi","family":"Meneri","sequence":"additional","affiliation":[{"name":"Neurology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , 20122 Milan ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Beretta","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), Universit\u00e0 degli Studi di Firenze , 50139 Firenze ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annalisa","family":"Sarno","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Universit\u00e0 degli Studi di Milano , 20122 Milan ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Neurology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , 20122 Milan ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4720-9234","authenticated-orcid":false,"given":"Edoardo","family":"Monfrini","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Universit\u00e0 degli Studi di Milano , 20122 Milan ,","place":["Italy"]},{"name":"Neurology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , 20122 Milan ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6478-026X","authenticated-orcid":false,"given":"Alessio","family":"Di Fonzo","sequence":"additional","affiliation":[{"name":"Neurology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , 20122 Milan ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa","family":"Pellecchia","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, Neuroscience Section, Universit\u00e0 degli Studi di Salerno , 84081Salerno ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Brusati","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences, Universit\u00e0 degli Studi di Pavia , 27100 Pavia ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Silani","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Universit\u00e0 degli Studi di Milano , 20122 Milan ,","place":["Italy"]},{"name":"Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano , 20149 Milan ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo Pietro","family":"Comi","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Universit\u00e0 degli Studi di Milano , 20122 Milan ,","place":["Italy"]},{"name":"Neurology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , 20122 Milan 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