{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T11:40:40Z","timestamp":1784547640388,"version":"3.55.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2017,10,6]],"date-time":"2017-10-06T00:00:00Z","timestamp":1507248000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Curr Neurol Neurosci Rep"],"published-print":{"date-parts":[[2017,11]]},"DOI":"10.1007\/s11910-017-0798-y","type":"journal-article","created":{"date-parts":[[2017,10,5]],"date-time":"2017-10-05T22:20:43Z","timestamp":1507242043000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Treatment Advances in Spinal Muscular Atrophy"],"prefix":"10.1007","volume":"17","author":[{"given":"Diana","family":"Bharucha-Goebel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Kaufmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,10,6]]},"reference":[{"issue":"8","key":"798_CR1","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1001\/archneurol.2011.74","volume":"68","author":"SJ Kolb","year":"2011","unstructured":"Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol. 2011;68(8):979\u201383.","journal-title":"Arch Neurol"},{"key":"798_CR2","doi-asserted-by":"crossref","unstructured":"\u2022 Pechmann A, Kirschner J. Diagnosis and new treatment avenues in spinal muscular atrophy. Neuropediatrics. 2017; This paper gives an overview of diagnosing SMA as well as reviews standard of care practices and provides a timeline of the development of therapeutics for SMA","DOI":"10.1055\/s-0037-1603517"},{"key":"798_CR3","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.nbd.2017.01.011","volume":"102","author":"T Wen-Yo","year":"2017","unstructured":"Wen-Yo T, Simpson JE, Highley JR, Heath PR. Spinal muscular atrophy: factors that modulate motor neurone vulnerability. Neurobiol Dis. 2017;102:11\u201320.","journal-title":"Neurobiol Dis"},{"key":"798_CR4","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/nrn2670","volume":"10","author":"AHM Burghes","year":"2009","unstructured":"\u2022 Burghes AHM, Beattie CE. Spinal muscular atrophy : why do low levels of survival motor neuron protein make motor neurons sick? Nature Reviews. 2009;10:597\u2013609. The author provides a detailed review of the function of SMN and discusses hypotheses for why low SMN leads to SMA and why it targets motor neurons","journal-title":"Nature Reviews"},{"key":"798_CR5","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","volume":"51","author":"WD Arnold","year":"2015","unstructured":"Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy : diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51:157\u201367.","journal-title":"Muscle Nerve"},{"key":"798_CR6","doi-asserted-by":"crossref","first-page":"487","DOI":"10.3233\/JND-160177","volume":"3","author":"S Grotto","year":"2016","unstructured":"Grotto S, Cuisset JM, Marret S, et al. Type 0 spinal muscular atrophy: further delineation of prenatal and postnatal features in 16 patients. J Neuromuscul Dis. 2016;3:487\u201395.","journal-title":"J Neuromuscul Dis"},{"issue":"39","key":"798_CR7","first-page":"1","volume":"17","author":"MC Pera","year":"2017","unstructured":"Pera MC, Coratti G, Forcina N, et al. Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurol. 2017;17(39):1\u201310.","journal-title":"BMC Neurol"},{"key":"798_CR8","doi-asserted-by":"crossref","unstructured":"\u2022 Bishop KM, Montes J, Finkel RS. Motor milestone assessment of infants with spinal muscular atrophy using the Hammersmith infant neurological exam\u2014part 2: experience from a nusinersen clinical study. Muscle Nerve. 2017:1\u20134. The authors discuss the reliability and feasibility of the use of the HINE-2 scale for assessing infants with SMA in response to therapeutics and in clinical trials","DOI":"10.1002\/mus.25705"},{"key":"798_CR9","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1001\/archneur.59.9.1445","volume":"59","author":"ST Iannaccone","year":"2002","unstructured":"Iannaccone ST. Outcome measures for pediatric spinal muscular atrophy. Arch Neurol. 2002;59:1445\u201350.","journal-title":"Arch Neurol"},{"issue":"4","key":"798_CR10","doi-asserted-by":"crossref","first-page":"e021799","DOI":"10.1371\/journal.pone.0121799","volume":"10","author":"AM Seferian","year":"2015","unstructured":"Seferian AM, Moraux A, Canal A, et al. Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial. PLoS One. 2015;10(4):e021799.","journal-title":"PLoS One"},{"issue":"5","key":"798_CR11","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1002\/acn3.406","volume":"4","author":"U Bonati","year":"2017","unstructured":"Bonati U, Holiga S, Hellback N, et al. Longitudinal characterization of biomarkers for spinal muscular atrophy. Ann Clin Transl Neurol. 2017;4(5):292\u2013304.","journal-title":"Ann Clin Transl Neurol"},{"issue":"20","key":"798_CR12","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1212\/01.wnl.0000290830.40544.b9","volume":"69","author":"M Oskoui","year":"2007","unstructured":"Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007;69(20):1931\u20136.","journal-title":"Neurology"},{"issue":"9","key":"798_CR13","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1212\/WNL.0000000000000741","volume":"83","author":"RS Finkel","year":"2014","unstructured":"Finkel RS, McDermott MP, Kaufmann P, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83(9):810\u20137.","journal-title":"Neurology"},{"issue":"18","key":"798_CR14","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1212\/WNL.0b013e318271f7e4","volume":"79","author":"P Kaufmann","year":"2012","unstructured":"Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79(18):1889\u201397.","journal-title":"Neurology"},{"key":"798_CR15","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.nmd.2015.10.006","volume":"26","author":"E Mercuri","year":"2016","unstructured":"\u2022 Mercuri E, Finkel R, Montes J, et al. Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials. Neuromuscul Disord. 2016;26:126\u201331. This paper reports on one of the largest sets of longitudinal data in ambulant and nonambulant patients with type 2 and type 3 SMA and describes the change in the Hammersmith Functional motor scale over time","journal-title":"Neuromuscul Disord"},{"key":"798_CR16","doi-asserted-by":"crossref","first-page":"10067","DOI":"10.1021\/acs.jmedchem.6b00670","volume":"59","author":"AN Calder","year":"2016","unstructured":"\u2022\u2022 Calder AN, Androphy EJ, Hodgetts KJ. Small molecules in development for the treatment of spinal muscular atrophy. J Med Chem. 2016;59:10067\u201383. This paper provides an overview of prior and novel small molecule compounds and reviews their biochemical properties, mode of action, and for previously tested repurposed drugs provides a review of the trial data for those compounds","journal-title":"J Med Chem"},{"key":"798_CR17","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/ana.24864","volume":"81","author":"MA Farrar","year":"2017","unstructured":"\u2022 Farrar MA, Park SB, Vucic S, et al. Emerging therapies and challenges in spinal muscular atrophy. Ann Neurol. 2017;81:355\u201368. This paper provides a review of novel therapies for SMA, and provides useful figures and tables that highlight the mechanism and targeted site of action for these drugs","journal-title":"Ann Neurol"},{"issue":"8","key":"798_CR18","doi-asserted-by":"crossref","first-page":"e12140","DOI":"10.1371\/journal.pone.0012140","volume":"5","author":"KJ Swoboda","year":"2010","unstructured":"Swoboda KJ, Scott CB, Crawford TO, et al. SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS One. 2010;5(8):e12140.","journal-title":"PLoS One"},{"issue":"7","key":"798_CR19","doi-asserted-by":"crossref","first-page":"e21296","DOI":"10.1371\/journal.pone.0021296","volume":"6","author":"JT Kissel","year":"2011","unstructured":"Kissel JT, Scott CB, Reyna SP, et al. SMA CARNIVAL trial part II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. PLoS One. 2011;6(7):e21296.","journal-title":"PLoS One"},{"key":"798_CR20","first-page":"CD006282","volume":"12","author":"RI Wadman","year":"2011","unstructured":"Wadman RI, Bosboom WM, van den Berg LH, et al. Drug treatment for spinal muscular atrophy types II and III. Cochrane Database Syst Rev. 2011;12:CD006282.","journal-title":"Cochrane Database Syst Rev"},{"key":"798_CR21","unstructured":"Bertini E, Dessaud E, Mercuri E, et al. Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial."},{"key":"798_CR22","doi-asserted-by":"crossref","unstructured":"\u2022\u2022 Scoto M, Finkel RS, Mercuri E, Muntoni F. Therapeutic approaches for spinal muscular atrophy (SMA). Gene Therapy. 2017; This article provides a timely review of therapies for SMA including a focus on recent clinical trials and novel advances including gene replacement","DOI":"10.1038\/gt.2017.45"},{"issue":"1","key":"798_CR23","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.clinthera.2013.11.006","volume":"36","author":"C Zanetta","year":"2014","unstructured":"Zanetta C, Nizzardo M, Simone C, et al. Molecular therapeutic strategies for spinal muscular atrophy: current and future clinical trials. Clin Ther. 2014;36(1):128\u201340.","journal-title":"Clin Ther"},{"key":"798_CR24","doi-asserted-by":"crossref","first-page":"3017","DOI":"10.1016\/S0140-6736(16)31408-8","volume":"388","author":"RS Finkel","year":"2016","unstructured":"\u2022\u2022 Finkel RS, Chiriboga CA, Vajsar J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet. 2016;388:3017\u201326. This paper provides data on the use of nusinersen with type I SMA and reviews safety, motor functional, and electrophysiologic outcome measures as well as critical biodistribution and histologic data that was obtained from autopsy of three patients","journal-title":"Lancet"},{"key":"798_CR25","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1038\/mt.2014.210","volume":"23","author":"K Meyer","year":"2015","unstructured":"Meyer K, Ferraiuolo L, Schmelzer L, et al. Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates. Mol Ther. 2015;23:477\u201387.","journal-title":"Mol Ther"},{"key":"798_CR26","unstructured":"https:\/\/www.medpagetoday.com\/meetingcoverage\/aan\/64817 (accessed June 21, 2017)."},{"issue":"8","key":"798_CR27","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1177\/0883073807305788","volume":"22","author":"CH Wang","year":"2007","unstructured":"\u2022\u2022 Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027\u201349. This paper has led to a shift in clinical practices in order to improve standards of care and overall health for patients with SMA over the past ten years","journal-title":"J Child Neurol"},{"key":"798_CR28","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1053\/j.semperi.2015.03.006","volume":"39","author":"HC Phan","year":"2015","unstructured":"Phan HC, Taylor JL, Hannon H, et al. Newborn screening for spinal muscular atrophy: anticipating an imminent need. Semin Perinat. 2015;39:217\u201329.","journal-title":"Semin Perinat"},{"key":"798_CR29","first-page":"CD006281","volume":"12","author":"RI Wadman","year":"2011","unstructured":"Wadman RI, Bosboom WM, van den Berg LH, et al. Drug treatment for spinal muscular atrophy type I. Cochrane Database Syst Rev. 2011;12:CD006281.","journal-title":"Cochrane Database Syst Rev"}],"container-title":["Current Neurology and Neuroscience Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11910-017-0798-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11910-017-0798-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11910-017-0798-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,4]],"date-time":"2019-10-04T09:07:25Z","timestamp":1570180045000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11910-017-0798-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,6]]},"references-count":29,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["798"],"URL":"https:\/\/doi.org\/10.1007\/s11910-017-0798-y","relation":{},"ISSN":["1528-4042","1534-6293"],"issn-type":[{"value":"1528-4042","type":"print"},{"value":"1534-6293","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10,6]]},"article-number":"91"}}