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Genetic testing revealed BICD2-related spinal muscular atrophy with lower extremity dominance (SMALED2), a disease that is usually of earlier onset. He is the oldest patient in the literature to be diagnosed with SMALED2 while maintaining ambulation, suggesting the milder spectrum of BICD2-related disease.<\/jats:p>","DOI":"10.1136\/bcr-2021-248297","type":"journal-article","created":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T12:49:52Z","timestamp":1648644592000},"page":"e248297","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0918-7097","authenticated-orcid":false,"given":"Iqra","family":"Aziz","sequence":"first","affiliation":[{"name":"Royal North Shore Hospital, St Leonards, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Davis","sequence":"additional","affiliation":[{"name":"Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Nedlands, Western Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2503-1917","authenticated-orcid":false,"given":"Christina","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia"},{"name":"Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,3,30]]},"reference":[{"key":"2025082712364230000_15.3.e248297.1","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/j.nmd.2020.05.009","article-title":"Smaled2 with BICD2 gene mutations: report of two cases and portrayal of a classical phenotype","volume":"30","author":"Picher-Martel","year":"2020","journal-title":"Neuromuscul Disord"},{"key":"2025082712364230000_15.3.e248297.2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy086"},{"key":"2025082712364230000_15.3.e248297.3","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2006.093534"},{"key":"2025082712364230000_15.3.e248297.4","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1111\/ene.14700","article-title":"Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation","volume":"28","author":"Frasquet","year":"2021","journal-title":"Eur J Neurol"},{"key":"2025082712364230000_15.3.e248297.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.018"},{"key":"2025082712364230000_15.3.e248297.6","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1002\/ana.25704","article-title":"The genotypic and phenotypic spectrum of BICD2 variants in spinal muscular atrophy","volume":"87","author":"Koboldt","year":"2020","journal-title":"Ann Neurol"},{"key":"2025082712364230000_15.3.e248297.7","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-306777"},{"key":"2025082712364230000_15.3.e248297.8","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1002\/mus.25114","article-title":"Autosomal dominant spinal muscular atrophy with lower extremity predominance: a recognizable phenotype of BICD2 mutations","volume":"54","author":"Rudnik-Sch\u00f6neborn","year":"2016","journal-title":"Muscle Nerve"},{"key":"2025082712364230000_15.3.e248297.9","doi-asserted-by":"crossref","first-page":"109","DOI":"10.5414\/NP301144","article-title":"Adult-onset SMALED2 due to a novel BICD2 mutation presenting with asymmetrical lower limb involvement","volume":"38","author":"Wan","year":"2019","journal-title":"Clin Neuropathol"},{"key":"2025082712364230000_15.3.e248297.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00042-X"},{"key":"2025082712364230000_15.3.e248297.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.011"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-248297","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:36:50Z","timestamp":1756323410000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-248297"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,3,30]]},"published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1136\/bcr-2021-248297"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-248297","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,3]]}}}