{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,19]],"date-time":"2026-07-19T07:22:40Z","timestamp":1784445760438,"version":"3.55.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,1,4]],"date-time":"2023-01-04T00:00:00Z","timestamp":1672790400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009879","name":"Regione Emilia-Romagna","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009879","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>With upcoming personalized approaches based on genetics, it is important to report new mutations in amyotrophic lateral sclerosis (ALS) genes in order to understand their pathogenicity and possible patient responses to specific therapies. <jats:italic>SOD1<\/jats:italic> mutations are the second most frequent genetic cause of ALS in European populations. Here, we describe two seemingly unrelated Italian patients with ALS carrying the same <jats:italic>SOD1<\/jats:italic> heterozygous c.400_402 deletion (p.Glu134del). Both patients had spinal onset in their lower limbs, progressive muscular weakness with respiratory involvement, and sparing bulbar function. In addition to the clinical picture, we discuss the possible pathogenic role of this unfamiliar <jats:italic>SOD1<\/jats:italic> mutation.<\/jats:p>","DOI":"10.3389\/fneur.2022.1052341","type":"journal-article","created":{"date-parts":[[2023,1,4]],"date-time":"2023-01-04T16:09:00Z","timestamp":1672848540000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Case report: p.Glu134del SOD1 mutation in two apparently unrelated ALS patients with mirrored phenotype"],"prefix":"10.3389","volume":"13","author":[{"given":"Giulia","family":"Gianferrari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Martinelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Simonini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Zucchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Fini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Carra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Moglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Mandrioli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,1,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1038\/362059a0","article-title":"Mutations in Cu\/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis","volume":"362","author":"Rosen","year":"1993","journal-title":"Nature."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/jpm10030058","article-title":"A systematic review of genotype\u2013phenotype correlation across cohorts having causal mutations of different genes in ALS","volume":"10","author":"Connolly","year":"2020","journal-title":"J Person Med."},{"key":"B3","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1136\/jnnp-2016-315018","article-title":"Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis","volume":"88","author":"Zou","year":"2017","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"B4","article-title":"The landscape of cognitive impairment in superoxide dismutase 1 - 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