{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T11:16:48Z","timestamp":1715080608625},"reference-count":15,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,8]]},"DOI":"10.7759\/cureus.38709","type":"journal-article","created":{"date-parts":[[2023,5,8]],"date-time":"2023-05-08T13:48:15Z","timestamp":1683553695000},"source":"Crossref","is-referenced-by-count":1,"title":["Utility of Skeletal Muscle CT in Diagnosing Spinal Muscular Atrophy Type 3 in a Patient Who Had Been Undiagnosed for 50 Years"],"prefix":"10.7759","author":[{"given":"Michihiro","family":"Hirayama","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Ayaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Yoshii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken","family":"Yasuda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryosuke","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre S","year":"1995","unstructured":"Lefebvre S, B\u00fcrglen L, Reboullet S, et al.. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995, 80:155-65. 10.1016\/0092-8674(95)90460-3","journal-title":"Cell"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1710504","article-title":"Nusinersen versus sham control in later-onset spinal muscular atrophy","volume":"378","author":"Mercuri E","year":"2018","unstructured":"Mercuri E, Darras BT, Chiriboga CA, et al.. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med. 2018, 378:625-35. 10.1056\/NEJMoa1710504","journal-title":"N Engl J Med"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(21)00367-7","article-title":"Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial","volume":"21","author":"Mercuri E","year":"2022","unstructured":"Mercuri E, Deconinck N, Mazzone ES, et al.. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Lancet Neurol. 2022, 21:42-52. 10.1016\/S1474-4422(21)00367-7","journal-title":"Lancet Neurol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2015.06.002","article-title":"Delay in diagnosis of spinal muscular atrophy: a systematic literature review","volume":"53","author":"Lin CW","year":"2015","unstructured":"Lin CW, Kalb SJ, Yeh WS. Delay in diagnosis of spinal muscular atrophy: a systematic literature review. Pediatr Neurol. 2015, 53:293-300. 10.1016\/j.pediatrneurol.2015.06.002","journal-title":"Pediatr Neurol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25385","article-title":"Muscle magnetic resonance imaging in spinal muscular atrophy type 3: selective and progressive involvement","volume":"55","author":"Durmus H","year":"2017","unstructured":"Durmus H, Yilmaz R, Gulsen-Parman Y, Oflazer-Serdaroglu P, Cuttini M, Dursun M, Deymeer F. Muscle magnetic resonance imaging in spinal muscular atrophy type 3: selective and progressive involvement. Muscle Nerve. 2017, 55:651-6. 10.1002\/mus.25385","journal-title":"Muscle Nerve"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-019-09646-w","article-title":"MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients","volume":"267","author":"Brogna C","year":"2020","unstructured":"Brogna C, Cristiano L, Verdolotti T, et al.. MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients. J Neurol. 2020, 267:898-912. 10.1007\/s00415-019-09646-w","journal-title":"J Neurol"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0230677","article-title":"Diagnostic journey in spinal muscular atrophy: is it still an odyssey?","volume":"15","author":"Pera MC","year":"2020","unstructured":"Pera MC, Coratti G, Berti B, et al.. Diagnostic journey in spinal muscular atrophy: is it still an odyssey?. PLoS One. 2020, 15:e0230677. 10.1371\/journal.pone.0230677","journal-title":"PLoS One"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2016-313526","article-title":"Differentiating lower motor neuron syndromes","volume":"88","author":"Garg N","year":"2017","unstructured":"Garg N, Park SB, Vucic S, et al.. Differentiating lower motor neuron syndromes. J Neurol Neurosurg Psychiatry. 2017, 88:474-83. 10.1136\/jnnp-2016-313526","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.12.027","article-title":"Type III spinal muscular atrophy mimicking muscular dystrophies","volume":"48","author":"Alsaman AS","year":"2013","unstructured":"Alsaman AS, Alshaikh NM. Type III spinal muscular atrophy mimicking muscular dystrophies. Pediatr Neurol. 2013, 48:363-6. 10.1016\/j.pediatrneurol.2012.12.027","journal-title":"Pediatr Neurol"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3349\/ymj.2017.58.5.1051","article-title":"Clinical characteristics of spinal muscular atrophy in Korea confirmed by genetic analysis","volume":"58","author":"Hwang H","year":"2017","unstructured":"Hwang H, Lee JH, Choi YC. Clinical characteristics of spinal muscular atrophy in Korea confirmed by genetic analysis. Yonsei Med J. 2017, 58:1051-4. 10.3349\/ymj.2017.58.5.1051","journal-title":"Yonsei Med J"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.08.002","article-title":"TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25-26 February 2011, Rome, Italy","volume":"22 Suppl 2","author":"Straub V","year":"2012","unstructured":"Straub V, Carlier PG, Mercuri E. TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25-26 February 2011, Rome, Italy. Neuromuscul Disord. 2012, 22 Suppl 2:S42-53. 10.1016\/j.nmd.2012.08.002","journal-title":"Neuromuscul Disord"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-301456","article-title":"The split hand syndrome in amyotrophic lateral sclerosis","volume":"83","author":"Eisen A","year":"2012","unstructured":"Eisen A, Kuwabara S. The split hand syndrome in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2012, 83:399-403. 10.1136\/jnnp-2011-301456","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000008009","article-title":"Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity","volume":"93","author":"Klickovic U","year":"2019","unstructured":"Klickovic U, Zampedri L, Sinclair CD, et al.. Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity. Neurology. 2019, 93:e895-907. 10.1212\/WNL.0000000000008009","journal-title":"Neurology"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0082654","article-title":"Selective vulnerability of spinal and cortical motor neuron subpopulations in delta7 SMA mice","volume":"8","author":"d'Errico P","year":"2013","unstructured":"d'Errico P, Boido M, Piras A, et al.. Selective vulnerability of spinal and cortical motor neuron subpopulations in delta7 SMA mice. PLoS One. 2013, 8:e82654. 10.1371\/journal.pone.0082654","journal-title":"PLoS One"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181eccf8f","article-title":"Assessing spinal muscular atrophy with quantitative ultrasound","volume":"75","author":"Wu JS","year":"2010","unstructured":"Wu JS, Darras BT, Rutkove SB. Assessing spinal muscular atrophy with quantitative ultrasound. Neurology. 2010, 75:526-31. 10.1212\/WNL.0b013e3181eccf8f","journal-title":"Neurology"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/144477-utility-of-skeletal-muscle-ct-in-diagnosing-spinal-muscular-atrophy-type-3-in-a-patient-who-had-been-undiagnosed-for-50-years","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:59:24Z","timestamp":1707508764000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/144477-utility-of-skeletal-muscle-ct-in-diagnosing-spinal-muscular-atrophy-type-3-in-a-patient-who-had-been-undiagnosed-for-50-years"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,8]]},"references-count":15,"URL":"https:\/\/doi.org\/10.7759\/cureus.38709","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5,8]]}}}