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His clinical presentation is atypical, with a slow progressive course, lower extremity weakness, and sparing of bulbar and respiratory function, consistent with the flail leg variant of ALS. The objective of this report is to increase awareness of atypical presentations of ALS and the diagnostic challenges they pose to clinicians. In addition to a description of the clinical case, we briefly discuss the new role of gene therapy in the treatment of familial ALS with <jats:italic>SOD1<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1136\/bcr-2024-263293","type":"journal-article","created":{"date-parts":[[2025,2,17]],"date-time":"2025-02-17T17:45:56Z","timestamp":1739814356000},"page":"e263293","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Atypical presentation of amyotrophic lateral sclerosis with <i>SOD1<\/i>-H47R mutation"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7106-7550","authenticated-orcid":false,"given":"Vaishnavi","family":"Aryapadi","sequence":"first","affiliation":[{"name":"Neurology, UT Southwestern Medical Center, Dallas, Texas, USA"},{"name":"Neurology, Parkland Health, Dallas, Texas, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaya","family":"Trivedi","sequence":"additional","affiliation":[{"name":"Neurology, UT Southwestern Medical Center, Dallas, Texas, USA"},{"name":"Neurology, Parkland Health, Dallas, Texas, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,2,17]]},"reference":[{"key":"2025082800091602000_18.2.e263293.1","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.1212\/CON.0000000000001345","article-title":"Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases","volume":"29","author":"Izenberg","year":"2023","journal-title":"Continuum (Mount Lawley)"},{"key":"2025082800091602000_18.2.e263293.2","doi-asserted-by":"publisher","DOI":"10.1007\/s11825-018-0185-3"},{"key":"2025082800091602000_18.2.e263293.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2020.04.005"},{"key":"2025082800091602000_18.2.e263293.4","first-page":"e802","article-title":"ALS phenotype is influenced by age, sex, and genetics: A population-based study","volume":"94","author":"Chi\u00f2","year":"2020","journal-title":"Neurology (ECronicon)"},{"key":"2025082800091602000_18.2.e263293.5","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.ncl.2015.07.003","article-title":"Amyotrophic Lateral Sclerosis Regional Variants (Brachial Amyotrophic Diplegia, Leg Amyotrophic Diplegia, and Isolated Bulbar Amyotrophic Lateral Sclerosis)","volume":"33","author":"Jawdat","year":"2015","journal-title":"Neurol Clin"},{"key":"2025082800091602000_18.2.e263293.6","unstructured":"Cerillo JL , Parmar M . 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