{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T08:48:00Z","timestamp":1792140480587,"version":"4.4.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,7,24]],"date-time":"2019-07-24T00:00:00Z","timestamp":1563926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:p>\n                    Spinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the\n                    <jats:italic>SMN1<\/jats:italic>\n                    gene and manifesting at birth. Most patients die in the first weeks of life. In this work, we present 3 patients with SMA type 0 who survived &gt;1 year and presented diffuse and progressive brain abnormalities on magnetic resonance imaging, which are not usually seen in patients with SMA. Thus, severe brain involvement may likely be the full end manifestation of an already extreme SMA phenotype caused by substantial reduction of the SMN protein in the brain. ANN NEUROL 2019;86:458\u2013462\n                  <\/jats:p>","DOI":"10.1002\/ana.25549","type":"journal-article","created":{"date-parts":[[2019,7,13]],"date-time":"2019-07-13T12:43:22Z","timestamp":1563021802000},"page":"458-462","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":55,"title":["Severe brain involvement in 5q spinal muscular atrophy type 0"],"prefix":"10.1002","volume":"86","author":[{"given":"Rodrigo H.","family":"Mendon\u00e7a","sequence":"first","affiliation":[{"name":"Department of Neurology, Faculdade de Medicina Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f4nio J.","family":"Rocha","sequence":"additional","affiliation":[{"name":"Neuroradiology Section High Diagnostic Excellence (DASA Group)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7401-8113","authenticated-orcid":false,"given":"Andres","family":"Lozano\u2010Arango","sequence":"additional","affiliation":[{"name":"Hernan Henriquez Aravena Regional Hospital  Temuco Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astry B.","family":"Diaz","sequence":"additional","affiliation":[{"name":"Hernan Henriquez Aravena Regional Hospital  Temuco Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1981-7550","authenticated-orcid":false,"given":"Claudia","family":"Castiglioni","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Las Condes Clinic  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5792-5878","authenticated-orcid":false,"given":"Andr\u00e9 M. 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