{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:49:00Z","timestamp":1760147340892,"version":"build-2065373602"},"reference-count":23,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,28]],"date-time":"2023-01-28T00:00:00Z","timestamp":1674864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union\u2019s Horizon 2020 research and innovation program","award":["GA101017598"],"award-info":[{"award-number":["GA101017598"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Amyotrophic lateral sclerosis (ALS) and myopathy have been already described as part of a common genetic syndrome called multisystem proteinopathy. They may occur together or not, and can be associated with other clinical features such as frontotemporal dementia and Paget\u2019s bone disease. In addition, primary skeletal muscle involvement has been also reported in inherited forms of lower motor neuron disease, in spinal\u2013bulbar muscular atrophy and in spinal muscular atrophy. We aim to characterize three sporadic, spinal-onset ALS patients, one with a concurrent non-specific myopathy, and two with a previous diagnosis of myopathy before upper and lower motor neuron signs emerged. Perhaps our sporadic ALS cases associated with myopathy share a common, but still unknown, pathogenic background. These cases raise the paradigm of a possible interplay between skeletal muscle degeneration and motor neuron damage.<\/jats:p>","DOI":"10.3390\/brainsci13020220","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T03:31:11Z","timestamp":1675049471000},"page":"220","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Sporadic Spinal-Onset Amyotrophic Lateral Sclerosis Associated with Myopathy in Three Unrelated Portuguese Patients"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8290-0410","authenticated-orcid":false,"given":"Miguel","family":"Oliveira Santos","sequence":"first","affiliation":[{"name":"Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universit\u00e1rio de Lisboa Norte, 1649-028 Lisbon, Portugal"},{"name":"Instituto de Fisiologia, Instituto de Medicina Molecular, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, 1648-028 Lisbon, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2111-4579","authenticated-orcid":false,"given":"Marta","family":"Gromicho","sequence":"additional","affiliation":[{"name":"Instituto de Fisiologia, Instituto de Medicina Molecular, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, 1648-028 Lisbon, Portugal"}]},{"given":"Ana","family":"Pronto-Laborinho","sequence":"additional","affiliation":[{"name":"Instituto de Fisiologia, Instituto de Medicina Molecular, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, 1648-028 Lisbon, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7556-0158","authenticated-orcid":false,"given":"Mamede","family":"de Carvalho","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universit\u00e1rio de Lisboa Norte, 1649-028 Lisbon, Portugal"},{"name":"Instituto de Fisiologia, Instituto de Medicina Molecular, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, 1648-028 Lisbon, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/S1474-4422(13)70036-X","article-title":"Controversies and priorities in amyotrophic lateral sclerosis","volume":"12","author":"Turner","year":"2013","journal-title":"Lancet Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S1474-4422(12)70043-1","article-title":"Frequency of the c9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study","volume":"11","author":"Majounie","year":"2012","journal-title":"Lancet Neurol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.nmd.2016.05.017","article-title":"Consortium VCPrd. 215th ENMC international workshop VCP-related multi-system proteinopathy (IBMPFD)","volume":"26","author":"Evangelista","year":"2016","journal-title":"Neuromusc. 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Cells, 10.","DOI":"10.3390\/cells10030525"}],"container-title":["Brain Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-3425\/13\/2\/220\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:18:31Z","timestamp":1760120311000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-3425\/13\/2\/220"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,28]]},"references-count":23,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,2]]}},"alternative-id":["brainsci13020220"],"URL":"https:\/\/doi.org\/10.3390\/brainsci13020220","relation":{},"ISSN":["2076-3425"],"issn-type":[{"type":"electronic","value":"2076-3425"}],"subject":[],"published":{"date-parts":[[2023,1,28]]}}}