{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T03:09:51Z","timestamp":1793761791019,"version":"4.6.1"},"reference-count":57,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T00:00:00Z","timestamp":1602028800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T00:00:00Z","timestamp":1602028800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Medizinische Hochschule Hannover (MHH)"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Efficacy of nusinersen in adult 5q-spinal muscular atrophy (SMA) patients regarding motor function has recently been demonstrated. However, additional outcome measures are needed to capture non-motor improvements. Fatigue is a common and disabling symptom in neurologic diseases, but little is known about its frequency, characteristics and associated factors in SMA.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Objective<\/jats:title>\n                <jats:p>To characterize fatigue in SMA patients receiving nusinersen, identify associated factors and evaluate fatigue as potential patient-reported outcome measure (PRO).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We assessed fatigue in adults with genetically confirmed 5q-SMA in a prospective longitudinal monocentric study using the Fatigue Severity Scale (FSS) and the Multidimensional Fatigue Inventory (MFI). Factors associated with fatigue including health-related quality of life (HRQOL) were evaluated.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>75% of participants were abnormally fatigued with highest scores in the dimensions<jats:italic> physical<\/jats:italic>, followed by <jats:italic>general fatigue<\/jats:italic> and <jats:italic>reduced activity<\/jats:italic>. 53% agreed that fatigue was among their three most disabling symptoms. <jats:italic>Reduced activity<\/jats:italic> was reported more extensively by participants with\u2009\u2265\u20094 copies of the <jats:italic>survival of motor neuron 2<\/jats:italic> gene and better motor function. <jats:italic>General<\/jats:italic> and <jats:italic>mental fatigue<\/jats:italic> correlated positively with age and disease duration. HRQOL was inversely correlated with <jats:italic>physical fatigue<\/jats:italic>, which was not associated with disease or participant characteristics. During 14\u00a0months of nusinersen treatment, fatigue measures remained mostly stable with a trend towards improvement in <jats:italic>reduced activity<\/jats:italic>, <jats:italic>general<\/jats:italic> and <jats:italic>physical fatigue<\/jats:italic>.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Fatigue is a frequent and relevant complaint in adult SMA patients. Fatigue should be taken into consideration as additional outcome measure, but needs further evaluation in a larger patient cohort over a longer observation period.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-020-10227-5","type":"journal-article","created":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T16:02:43Z","timestamp":1602086563000},"page":"950-962","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["An observational cohort study on impact, dimensions and outcome of perceived fatigue in adult 5q-spinal muscular atrophy patients receiving nusinersen treatment"],"prefix":"10.1007","volume":"268","author":[{"given":"Camilla","family":"Binz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"Schreiber-Katz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mareike","family":"Kumpe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gresa","family":"Ranxha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Siegler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary","family":"Wieselmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Petri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alma","family":"Osmanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,10,7]]},"reference":[{"key":"10227_CR1","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"S Lefebvre","year":"1995","unstructured":"Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155\u2013165. https:\/\/doi.org\/10.1016\/0092-8674(95)90460-3","journal-title":"Cell"},{"key":"10227_CR2","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","volume":"33","author":"SJ Kolb","year":"2015","unstructured":"Kolb SJ, Kissel JT (2015) Spinal muscular atrophy. Neurol Clin 33:831\u2013846. https:\/\/doi.org\/10.1016\/j.ncl.2015.07.004","journal-title":"Neurol Clin"},{"key":"10227_CR3","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1007\/s00439-006-0156-7","volume":"119","author":"B Wirth","year":"2006","unstructured":"Wirth B, Brichta L, Schrank B, Lochmuller H, Blick S, Baasner A, Heller R (2006) Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 119:422\u2013428. https:\/\/doi.org\/10.1007\/s00439-006-0156-7","journal-title":"Hum Genet"},{"key":"10227_CR4","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","volume":"377","author":"RS Finkel","year":"2017","unstructured":"Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC, ENDEAR Study Group (2017) Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med 377:1723\u20131732. https:\/\/doi.org\/10.1056\/NEJMoa1702752","journal-title":"N Engl J Med"},{"key":"10227_CR5","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1056\/NEJMoa1710504","volume":"378","author":"E Mercuri","year":"2018","unstructured":"Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS, CHERISH Study Group (2018) Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med 378:625\u2013635. https:\/\/doi.org\/10.1056\/NEJMoa1710504","journal-title":"N Engl J Med"},{"key":"10227_CR6","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26769","author":"A Veerapandiyan","year":"2019","unstructured":"Veerapandiyan A, Eichinger K, Guntrum D, Kwon J, Baker L, Collins E, Ciafaloni E (2019) Nusinersen for older patients with spinal muscular atrophy: a real-world clinical setting experience. Muscle Nerve. https:\/\/doi.org\/10.1002\/mus.26769","journal-title":"Muscle Nerve"},{"key":"10227_CR7","doi-asserted-by":"publisher","first-page":"175628641988761","DOI":"10.1177\/1756286419887616","volume":"13","author":"I Cordts","year":"2020","unstructured":"Cordts I, Lingor P, Friedrich B, Pernpeintner V, Zimmer C, Deschauer M, Maegerlein C (2020) Intrathecal nusinersen administration in adult spinal muscular atrophy patients with complex spinal anatomy. Ther Adv Neurol Disord 13:1756286419887616. https:\/\/doi.org\/10.1177\/1756286419887616","journal-title":"Ther Adv Neurol Disord"},{"key":"10227_CR8","doi-asserted-by":"publisher","first-page":"453","DOI":"10.3233\/JND-190416","volume":"6","author":"MC Walter","year":"2019","unstructured":"Walter MC, Wenninger S, Thiele S, Stauber J, Hiebeler M, Greckl E, Stahl K, Pechmann A, Lochmuller H, Kirschner J, Schoser B (2019) Safety and treatment effects of nusinersen in longstanding adult 5q-SMA type 3\u2014a prospective observational study. J Neuromuscul Dis 6:453\u2013465. https:\/\/doi.org\/10.3233\/JND-190416","journal-title":"J Neuromuscul Dis"},{"key":"10227_CR9","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1055\/a-0996-0994","volume":"87","author":"T Hagenacker","year":"2019","unstructured":"Hagenacker T, Hermann A, Kamm C, Walter MC, Weiler M, Gunther R, Wurster CD, Kleinschnitz C (2019) Spinal muscular atrophy\u2014expert recommendations for the use of nusinersen in adult patients. Fortschr Neurol Psychiatr 87:703\u2013710. https:\/\/doi.org\/10.1055\/a-0996-0994","journal-title":"Fortschr Neurol Psychiatr"},{"key":"10227_CR10","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1016\/S1474-4422(20)30037-5","volume":"19","author":"T Hagenacker","year":"2020","unstructured":"Hagenacker T, Wurster CD, Gunther R, Schreiber-Katz O, Osmanovic A, Petri S, Weiler M, Ziegler A, Kuttler J, Koch JC, Schneider I, Wunderlich G, Schloss N, Lehmann HC, Cordts I, Deschauer M, Lingor P, Kamm C, Stolte B, Pietruck L, Totzeck A, Kizina K, Monninghoff C, von Velsen O, Ose C, Reichmann H, Forsting M, Pechmann A, Kirschner J, Ludolph AC, Hermann A, Kleinschnitz C (2020) Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study. Lancet Neurol 19:317\u2013325. https:\/\/doi.org\/10.1016\/S1474-4422(20)30037-5","journal-title":"Lancet Neurol"},{"key":"10227_CR11","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-020-09847-8","author":"A Osmanovic","year":"2020","unstructured":"Osmanovic A, Ranxha G, Kumpe M, Muschen L, Binz C, Wiehler F, Paracka L, Korner S, Kollewe K, Petri S, Schreiber-Katz O (2020) Treatment expectations and patient-reported outcomes of nusinersen therapy in adult spinal muscular atrophy. J Neurol. https:\/\/doi.org\/10.1007\/s00415-020-09847-8","journal-title":"J Neurol"},{"key":"10227_CR12","doi-asserted-by":"publisher","first-page":"1889","DOI":"10.1212\/WNL.0b013e318271f7e4","volume":"79","author":"P Kaufmann","year":"2012","unstructured":"Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, Oskoui M, Constantinescu A, Gooch CL, Foley AR, Yang ML, Tawil R, Chung WK, Martens WB, Montes J, Battista V, O'Hagen J, Dunaway S, Flickinger J, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Punyanitya M, Montgomery MJ, Marra J, Koo B, De Vivo DC, Muscle Study Group (MSG), Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR) (2012) Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology 79:1889\u20131897. https:\/\/doi.org\/10.1212\/WNL.0b013e318271f7e4","journal-title":"Neurology"},{"key":"10227_CR13","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-0998-4","author":"A Pechmann","year":"2019","unstructured":"Pechmann A, Konig K, Bernert G, Schachtrup K, Schara U, Schorling D, Schwersenz I, Stein S, Tassoni A, Vogt S, Walter MC, Lochmuller H, Kirschner J (2019) SMArtCARE\u2014a platform to collect real-life outcome data of patients with spinal muscular atrophy. Orphanet J Rare Dis. https:\/\/doi.org\/10.1186\/s13023-019-0998-4","journal-title":"Orphanet J Rare Dis"},{"key":"10227_CR14","doi-asserted-by":"publisher","first-page":"978","DOI":"10.1016\/S0140-6736(04)15794-2","volume":"363","author":"A Chaudhuri","year":"2004","unstructured":"Chaudhuri A, Behan PO (2004) Fatigue in neurological disorders. Lancet 363:978\u2013988. https:\/\/doi.org\/10.1016\/S0140-6736(04)15794-2","journal-title":"Lancet"},{"key":"10227_CR15","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/S0022-3999(03)00371-4","volume":"56","author":"AJ Dittner","year":"2004","unstructured":"Dittner AJ, Wessely SC, Brown RG (2004) The assessment of fatigue: a practical guide for clinicians and researchers. J Psychosom Res 56:157\u2013170. https:\/\/doi.org\/10.1016\/S0022-3999(03)00371-4","journal-title":"J Psychosom Res"},{"key":"10227_CR16","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1212\/WNL.0b013e31827f07be","volume":"80","author":"BM Kluger","year":"2013","unstructured":"Kluger BM, Krupp LB, Enoka RM (2013) Fatigue and fatigability in neurologic illnesses: proposal for a unified taxonomy. Neurology 80:409\u2013416. https:\/\/doi.org\/10.1212\/WNL.0b013e31827f07be","journal-title":"Neurology"},{"key":"10227_CR17","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1002\/mus.26069","volume":"58","author":"C Tran","year":"2018","unstructured":"Tran C, Bril V, Katzberg HD, Barnett C (2018) Fatigue is a relevant outcome in patients with myasthenia gravis. Muscle Nerve 58:197\u2013203. https:\/\/doi.org\/10.1002\/mus.26069","journal-title":"Muscle Nerve"},{"key":"10227_CR18","doi-asserted-by":"publisher","first-page":"642","DOI":"10.1212\/wnl.44.4.642","volume":"44","author":"KR Sharma","year":"1994","unstructured":"Sharma KR, Kent-Braun J, Mynhier MA, Weiner MW, Miller RG (1994) Excessive muscular fatigue in the postpoliomyelitis syndrome. Neurology 44:642\u2013646. https:\/\/doi.org\/10.1212\/wnl.44.4.642","journal-title":"Neurology"},{"key":"10227_CR19","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1016\/j.apmr.2011.01.005","volume":"92","author":"IM Tersteeg","year":"2011","unstructured":"Tersteeg IM, Koopman FS, Stolwijk-Swuste JM, Beelen A, Nollet F, CARPA Study Group (2011) A 5-year longitudinal study of fatigue in patients with late-onset sequelae of poliomyelitis. Arch Phys Med Rehabil 92:899\u2013904. https:\/\/doi.org\/10.1016\/j.apmr.2011.01.005","journal-title":"Arch Phys Med Rehabil"},{"key":"10227_CR20","doi-asserted-by":"publisher","first-page":"1479","DOI":"10.1007\/s11136-013-0565-8","volume":"23","author":"U Werlauff","year":"2014","unstructured":"Werlauff U, Hojberg A, Firla-Holme R, Steffensen BF, Vissing J (2014) Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale. Qual Life Res 23:1479\u20131488. https:\/\/doi.org\/10.1007\/s11136-013-0565-8","journal-title":"Qual Life Res"},{"key":"10227_CR21","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1080\/17482960701642502","volume":"9","author":"C Ramirez","year":"2008","unstructured":"Ramirez C, Piemonte ME, Callegaro D, Da Silva HC (2008) Fatigue in amyotrophic lateral sclerosis: frequency and associated factors. Amyotroph Lateral Scler 9:75\u201380. https:\/\/doi.org\/10.1080\/17482960701642502","journal-title":"Amyotroph Lateral Scler"},{"key":"10227_CR22","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1177\/088307389701200507","volume":"12","author":"ST Iannaccone","year":"1997","unstructured":"Iannaccone ST, White M, Browne R, Russman B, Buncher R, Samaha FJ (1997) Muscle fatigue in spinal muscular atrophy. J Child Neurol 12:321\u2013326. https:\/\/doi.org\/10.1177\/088307389701200507","journal-title":"J Child Neurol"},{"key":"10227_CR23","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1080\/16501970510030156","volume":"37","author":"IJ de Groot","year":"2005","unstructured":"de Groot IJ, de Witte LP (2005) Physical complaints in ageing persons with spinal muscular atrophy. J Rehabil Med 37:258\u2013262. https:\/\/doi.org\/10.1080\/16501970510030156","journal-title":"J Rehabil Med"},{"key":"10227_CR24","doi-asserted-by":"publisher","first-page":"1893","DOI":"10.1016\/j.clinph.2012.12.053","volume":"124","author":"Y Noto","year":"2013","unstructured":"Noto Y, Misawa S, Mori M, Kawaguchi N, Kanai K, Shibuya K, Isose S, Nasu S, Sekiguchi Y, Beppu M, Ohmori S, Nakagawa M, Kuwabara S (2013) Prominent fatigue in spinal muscular atrophy and spinal and bulbar muscular atrophy: evidence of activity-dependent conduction block. Clin Neurophysiol 124:1893\u20131898. https:\/\/doi.org\/10.1016\/j.clinph.2012.12.053","journal-title":"Clin Neurophysiol"},{"key":"10227_CR25","doi-asserted-by":"publisher","first-page":"109","DOI":"10.3233\/JND-180342","volume":"6","author":"S Dunaway Young","year":"2019","unstructured":"Dunaway Young S, Montes J, Kramer SS, Podwika B, Rao AK, De Vivo DC (2019) Perceived fatigue in spinal muscular atrophy: a pilot study. J Neuromuscul Dis 6:109\u2013117. https:\/\/doi.org\/10.3233\/JND-180342","journal-title":"J Neuromuscul Dis"},{"key":"10227_CR26","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.1001\/archneur.1989.00520460115022","volume":"46","author":"LB Krupp","year":"1989","unstructured":"Krupp LB, LaRocca NG, Muir-Nash J, Steinberg AD (1989) The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol 46:1121\u20131123. https:\/\/doi.org\/10.1001\/archneur.1989.00520460115022","journal-title":"Arch Neurol"},{"key":"10227_CR27","doi-asserted-by":"publisher","first-page":"1028","DOI":"10.1016\/j.nmd.2013.06.370","volume":"23","author":"IJ de Groot","year":"2013","unstructured":"de Groot IJ, Voet NB, van Middendorp H, Knoop HJ, Rahbek J, van Engelen BG (2013) 184th ENMC International Workshop: pain and fatigue in neuromuscular disorders: 20\u201322 May 2011, Naarden, The Netherlands. Neuromuscul Disord 23:1028\u20131032. https:\/\/doi.org\/10.1016\/j.nmd.2013.06.370","journal-title":"Neuromuscul Disord"},{"key":"10227_CR28","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/j.jpainsymman.2007.08.019","volume":"37","author":"L Whitehead","year":"2009","unstructured":"Whitehead L (2009) The measurement of fatigue in chronic illness: a systematic review of unidimensional and multidimensional fatigue measures. J Pain Symptom Manag 37:107\u2013128. https:\/\/doi.org\/10.1016\/j.jpainsymman.2007.08.019","journal-title":"J Pain Symptom Manag"},{"key":"10227_CR29","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1016\/j.apmr.2007.11.009","volume":"89","author":"HA Anton","year":"2008","unstructured":"Anton HA, Miller WC, Townson AF (2008) Measuring fatigue in persons with spinal cord injury. Arch Phys Med Rehabil 89:538\u2013542. https:\/\/doi.org\/10.1016\/j.apmr.2007.11.009","journal-title":"Arch Phys Med Rehabil"},{"key":"10227_CR30","doi-asserted-by":"crossref","unstructured":"Fayers PM, Machin D (2015) Quality of life: the assessment, analysis and reporting of patient-reported outcomes, New York","DOI":"10.1002\/9781118758991"},{"key":"10227_CR31","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/0022-3999(94)00125-O","volume":"39","author":"EM Smets","year":"1995","unstructured":"Smets EM, Garssen B, Bonke B, De Haes JC (1995) The Multidimensional Fatigue Inventory (MFI) psychometric qualities of an instrument to assess fatigue. J Psychosom Res 39:315\u2013325. https:\/\/doi.org\/10.1016\/0022-3999(94)00125-O","journal-title":"J Psychosom Res"},{"key":"10227_CR32","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1038\/bjc.2011.251","volume":"105","author":"S Singer","year":"2011","unstructured":"Singer S, Kuhnt S, Zwerenz R, Eckert K, Hofmeister D, Dietz A, Giesinger J, Hauss J, Papsdorf K, Briest S, Brown A (2011) Age- and sex-standardised prevalence rates of fatigue in a large hospital-based sample of cancer patients. Br J Cancer 105:445\u2013451. https:\/\/doi.org\/10.1038\/bjc.2011.251","journal-title":"Br J Cancer"},{"key":"10227_CR33","doi-asserted-by":"publisher","first-page":"1931","DOI":"10.1002\/ajmg.a.36574","volume":"164A","author":"T Bathen","year":"2014","unstructured":"Bathen T, Velvin G, Rand-Hendriksen S, Robinson HS (2014) Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors. Am J Med Genet A 164A:1931\u20131939. https:\/\/doi.org\/10.1002\/ajmg.a.36574","journal-title":"Am J Med Genet A"},{"key":"10227_CR34","doi-asserted-by":"publisher","first-page":"1727","DOI":"10.1007\/s11136-011-9903-x","volume":"20","author":"M Herdman","year":"2011","unstructured":"Herdman M, Gudex C, Lloyd A, Janssen M, Kind P, Parkin D, Bonsel G, Badia X (2011) Development and preliminary testing of the new five-level version of EQ-5D (EQ-5D-5L). Qual Life Res 20:1727\u20131736. https:\/\/doi.org\/10.1007\/s11136-011-9903-x","journal-title":"Qual Life Res"},{"key":"10227_CR35","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1016\/0168-8510(90)90421-9","volume":"16","author":"EuroQol Group","year":"1990","unstructured":"EuroQol Group (1990) EuroQol\u2013a new facility for the measurement of health-related quality of life. Health Policy 16:199\u2013208. https:\/\/doi.org\/10.1016\/0168-8510(90)90421-9","journal-title":"Health Policy"},{"key":"10227_CR36","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1007\/s40273-018-0615-8","volume":"36","author":"K Ludwig","year":"2018","unstructured":"Ludwig K, Graf von der Schulenburg JM, Greiner W (2018) German value set for the EQ-5D-5L. Pharmacoeconomics 36:663\u2013674. https:\/\/doi.org\/10.1007\/s40273-018-0615-8","journal-title":"Pharmacoeconomics"},{"key":"10227_CR37","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0424-0","author":"C Klug","year":"2016","unstructured":"Klug C, Schreiber-Katz O, Thiele S, Schorling E, Zowe J, Reilich P, Walter MC, Nagels KH (2016) Disease burden of spinal muscular atrophy in Germany. Orphanet J Rare Dis. https:\/\/doi.org\/10.1186\/s13023-016-0424-0","journal-title":"Orphanet J Rare Dis"},{"key":"10227_CR38","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0695-0","author":"J Lopez-Bastida","year":"2017","unstructured":"Lopez-Bastida J, Pena-Longobardo LM, Aranda-Reneo I, Tizzano E, Sefton M, Oliva-Moreno J (2017) Social\/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. Orphanet J Rare Dis. https:\/\/doi.org\/10.1186\/s13023-017-0695-0","journal-title":"Orphanet J Rare Dis"},{"key":"10227_CR39","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1002\/mus.25120","volume":"54","author":"S Dunaway Young","year":"2016","unstructured":"Dunaway Young S, Montes J, Kramer SS, Marra J, Salazar R, Cruz R, Chiriboga CA, Garber CE, De Vivo DC (2016) Six-minute walk test is reliable and valid in spinal muscular atrophy. Muscle Nerve 54:836\u2013842. https:\/\/doi.org\/10.1002\/mus.25120","journal-title":"Muscle Nerve"},{"key":"10227_CR40","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/s1090-3798(03)00060-6","volume":"7","author":"M Main","year":"2003","unstructured":"Main M, Kairon H, Mercuri E, Muntoni F (2003) The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol 7:155\u2013159. https:\/\/doi.org\/10.1016\/s1090-3798(03)00060-6","journal-title":"Eur J Paediatr Neurol"},{"key":"10227_CR41","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1177\/0883073811420294","volume":"17","author":"JM O'Hagen","year":"2007","unstructured":"O'Hagen JM, Glanzman AM, McDermott MP, Ryan PA, Flickinger J, Quigley J, Riley S, Sanborn E, Irvine C, Martens WB, Annis C, Tawil R, Oskoui M, Darras BT, Finkel RS, De Vivo DC (2007) An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord 17:693\u2013697. https:\/\/doi.org\/10.1177\/0883073811420294","journal-title":"Neuromuscul Disord"},{"key":"10227_CR42","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1002\/mus.25430","volume":"55","author":"ES Mazzone","year":"2017","unstructured":"Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Young SD, Salazar R, De Sanctis R, Pasternak A, Glanzman A, Coratti G, Civitello M, Forcina N, Gee R, Duong T, Pane M, Scoto M, Pera MC, Messina S, Tennekoon G, Day JW, Darras BT, De Vivo DC, Finkel R, Muntoni F, Mercuri E (2017) Revised upper limb module for spinal muscular atrophy: development of a new module. Muscle Nerve 55:869\u2013874. https:\/\/doi.org\/10.1002\/mus.25430","journal-title":"Muscle Nerve"},{"key":"10227_CR43","doi-asserted-by":"publisher","first-page":"1495","DOI":"10.1016\/j.ijsu.2014.07.013","volume":"12","author":"E von Elm","year":"2014","unstructured":"von Elm E, Altman DG, Egger M, Pocock SJ, Gotzsche PC, Vandenbroucke JP, Initiative STROBE (2014) The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement: guidelines for reporting observational studies. Int J Surg 12:1495\u20131499. https:\/\/doi.org\/10.1016\/j.ijsu.2014.07.013","journal-title":"Int J Surg"},{"key":"10227_CR44","doi-asserted-by":"publisher","first-page":"e0199657","DOI":"10.1371\/journal.pone.0199657","volume":"13","author":"J Montes","year":"2018","unstructured":"Montes J, McDermott MP, Mirek E, Mazzone ES, Main M, Glanzman AM, Duong T, Young SD, Salazar R, Pasternak A, Gee R, De Sanctis R, Coratti G, Forcina N, Fanelli L, Ramsey D, Milev E, Civitello M, Pane M, Pera MC, Scoto M, Day JW, Tennekoon G, Finkel RS, Darras BT, Muntoni F, De Vivo DC, Mercuri E (2018) Ambulatory function in spinal muscular atrophy: age-related patterns of progression. PLoS ONE 13:e0199657. https:\/\/doi.org\/10.1371\/journal.pone.0199657","journal-title":"PLoS ONE"},{"key":"10227_CR45","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-68051-w","author":"K Kizina","year":"2020","unstructured":"Kizina K, Stolte B, Totzeck A, Bolz S, Schlag M, Ose C, von Velsen O, Kleinschnitz C, Hagenacker T (2020) Fatigue in adults with spinal muscular atrophy under treatment with nusinersen. Sci Rep. https:\/\/doi.org\/10.1038\/s41598-020-68051-w","journal-title":"Sci Rep"},{"key":"10227_CR46","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1159\/000069834","volume":"26","author":"R Schwarz","year":"2003","unstructured":"Schwarz R, Krauss O, Hinz A (2003) Fatigue in the general population. Onkologie 26:140\u2013144. https:\/\/doi.org\/10.1159\/000069834","journal-title":"Onkologie"},{"key":"10227_CR47","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1080\/14034940410028406","volume":"33","author":"A Lerdal","year":"2005","unstructured":"Lerdal A, Wahl A, Rustoen T, Hanestad BR, Moum T (2005) Fatigue in the general population: a translation and test of the psychometric properties of the Norwegian version of the fatigue severity scale. Scand J Public Health 33:123\u2013130. https:\/\/doi.org\/10.1080\/14034940410028406","journal-title":"Scand J Public Health"},{"key":"10227_CR48","doi-asserted-by":"publisher","DOI":"10.1186\/1477-7525-9-101","author":"CJ Gibbons","year":"2011","unstructured":"Gibbons CJ, Mills RJ, Thornton EW, Ealing J, Mitchell JD, Shaw PJ, Talbot K, Tennant A, Young CA (2011) Development of a patient reported outcome measure for fatigue in motor neurone disease: the Neurological Fatigue Index (NFI-MND). Health Qual Life Outcomes. https:\/\/doi.org\/10.1186\/1477-7525-9-101","journal-title":"Health Qual Life Outcomes"},{"key":"10227_CR49","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1212\/01.wnl.0000042781.22278.0a","volume":"60","author":"JS Lou","year":"2003","unstructured":"Lou JS, Reeves A, Benice T, Sexton G (2003) Fatigue and depression are associated with poor quality of life in ALS. Neurology 60:122\u2013123. https:\/\/doi.org\/10.1212\/01.wnl.0000042781.22278.0a","journal-title":"Neurology"},{"key":"10227_CR50","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1007\/s13760-013-0198-2","volume":"113","author":"M Ghajarzadeh","year":"2013","unstructured":"Ghajarzadeh M, Jalilian R, Eskandari G, Sahraian MA, Azimi A, Mohammadifar M (2013) Fatigue in multiple sclerosis: relationship with disease duration, physical disability, disease pattern, age and sex. Acta Neurol Belg 113:411\u2013414. https:\/\/doi.org\/10.1007\/s13760-013-0198-2","journal-title":"Acta Neurol Belg"},{"key":"10227_CR51","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-016-0018-z","author":"LJ Zuo","year":"2016","unstructured":"Zuo LJ, Yu SY, Hu Y, Wang F, Piao YS, Lian TH, Yu QJ, Wang RD, Li LX, Guo P, Du Y, Zhu RY, Jin Z, Wang YJ, Wang XM, Chan P, Chen SD, Wang YJ, Zhang W (2016) Serotonergic dysfunctions and abnormal iron metabolism: Relevant to mental fatigue of Parkinson disease. Sci Rep. https:\/\/doi.org\/10.1038\/s41598-016-0018-z","journal-title":"Sci Rep"},{"key":"10227_CR52","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1111\/j.1469-8749.2012.04371.x","volume":"54","author":"WM Van Der Slot","year":"2012","unstructured":"Van Der Slot WM, Nieuwenhuijsen C, Van Den Berg-Emons RJ, Bergen MP, Hilberink SR, Stam HJ, Roebroeck ME (2012) Chronic pain, fatigue, and depressive symptoms in adults with spastic bilateral cerebral palsy. Dev Med Child Neurol 54:836\u2013842. https:\/\/doi.org\/10.1111\/j.1469-8749.2012.04371.x","journal-title":"Dev Med Child Neurol"},{"key":"10227_CR53","doi-asserted-by":"publisher","first-page":"2151","DOI":"10.1016\/j.apmr.2017.07.003","volume":"98","author":"AL Kratz","year":"2017","unstructured":"Kratz AL, Murphy SL, Braley TJ (2017) Pain, fatigue, and cognitive symptoms are temporally associated within but not across days in multiple sclerosis. Arch Phys Med Rehabil 98:2151\u20132159. https:\/\/doi.org\/10.1016\/j.apmr.2017.07.003","journal-title":"Arch Phys Med Rehabil"},{"key":"10227_CR54","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1080\/02841860601009430","volume":"46","author":"CL Hagelin","year":"2007","unstructured":"Hagelin CL, Wengstrom Y, Runesdotter S, Furst CJ (2007) The psychometric properties of the Swedish Multidimensional Fatigue Inventory MFI-20 in four different populations. Acta Oncol 46:97\u2013104. https:\/\/doi.org\/10.1080\/02841860601009430","journal-title":"Acta Oncol"},{"key":"10227_CR55","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1002\/mus.26633","volume":"60","author":"J Montes","year":"2019","unstructured":"Montes J, Dunaway Young S, Mazzone ES, Pasternak A, Glanzman AM, Finkel RS, Darras BT, Muntoni F, Mercuri E, De Vivo DC, Bishop KM, Schneider E, Bennett CF, Foster R, Farwell W, CS2, and CS12 Study Groups (2019) Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy. Muscle Nerve 60:409\u2013414. https:\/\/doi.org\/10.1002\/mus.26633","journal-title":"Muscle Nerve"},{"key":"10227_CR56","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1093\/annonc\/mdf122","volume":"13","author":"B Holzner","year":"2002","unstructured":"Holzner B, Kemmler G, Greil R, Kopp M, Zeimet A, Raderer M, Hejna M, Zochbauer S, Krajnik G, Huber H, Fleischhacker WW, Sperner-Unterweger B (2002) The impact of hemoglobin levels on fatigue and quality of life in cancer patients. Ann Oncol 13:965\u2013973. https:\/\/doi.org\/10.1093\/annonc\/mdf122","journal-title":"Ann Oncol"},{"key":"10227_CR57","doi-asserted-by":"publisher","first-page":"e1206","DOI":"10.1212\/WNL.0000000000006241","volume":"91","author":"P Mongiovi","year":"2018","unstructured":"Mongiovi P, Dilek N, Garland C, Hunter M, Kissel JT, Luebbe E, McDermott MP, Johnson N, Heatwole C (2018) Patient reported impact of symptoms in spinal muscular atrophy (PRISM-SMA). Neurology 91:e1206\u2013e1214. https:\/\/doi.org\/10.1212\/WNL.0000000000006241","journal-title":"Neurology"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-020-10227-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-020-10227-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-020-10227-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T02:38:14Z","timestamp":1633574294000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-020-10227-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,7]]},"references-count":57,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10227"],"URL":"https:\/\/doi.org\/10.1007\/s00415-020-10227-5","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,7]]},"assertion":[{"value":"26 June 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 September 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 September 2020","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 October 2020","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"Camilla Binz reports no disclosures. Olivia Schreiber-Katz has received honoraria as a speaker\/consultant and\/or funding for travel expenses from the German Neuromuscular Society \u201cDeutsche Gesellschaft fuer Muskelkranke (DGM e.V.), Novartis, Biogen GmbH, Biermann Verlag GmbH and the Jain Foundation. She has received research support from the German Neuromuscular Society \u201cDeutsche Gesellschaft fuer Muskelkranke (DGM e.V.), 2019\u20132020. Mareike Kumpe and Gresa Ranxha received travel cost compensation from Biogen GmbH. Hannah Siegler and Gary Wieselmann report no disclosures. Susanne Petri has received speaker\/ consultant honoraria and funding for travel expenses from Biogen, Cytokinetics, Inc., Desitin Pharma, Novartis, Roche, Teva. Alma Osmanovic has received honoraria as a speaker\/consultant from the German Neuromuscular Society \u201cDeutsche Gesellschaft fuer Muskelkranke (DGM e.V.) and Biogen GmbH.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"The study has been approved by the local ethics review board of Hannover Medical School (no. 6269) and has been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"All patients gave their written informed consent before entering the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"All study participants gave their written informed consent to the publication of anonymized cohort data.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}