{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T12:13:23Z","timestamp":1789474403905,"version":"build-2803163510"},"reference-count":49,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T00:00:00Z","timestamp":1684713600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>5q Spinal muscular atrophy (SMA) is a progressive, inherited, and severely disabling \u2013 yet treatable \u2013 motor neuron disease. Although treatment options have evolved in recent years, biomarkers for treatment monitoring and prognosis prediction remain elusive. Here, we investigated the utility of corneal confocal microscopy (CCM), a non\u2010invasive imaging technique to quantify small corneal nerve fibres in vivo, as a diagnostic tool in adult SMA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this cross\u2010sectional study, 19 patients with SMA type 3 and 19 healthy controls underwent CCM to measure corneal nerve fibre density (CNFD), corneal nerve fibre length (CNFL), and corneal nerve branch density (CNBD), as well as corneal immune cell infiltration. Hammersmith Functional Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM) scores and a 6\u2010Minute Walk Test (6MWT) were conducted to explore any correlation between CCM findings and motor function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Corneal nerve fibre parameters were decreased in SMA patients versus healthy controls (CNFD: <jats:italic>p<\/jats:italic>\u2009=\u20090.030; CNFL: <jats:italic>p<\/jats:italic>\u2009=\u20090.013; CNBD: <jats:italic>p<\/jats:italic>\u2009=\u20090.020) in the absence of relevant immune cell infiltration. CNFD and CNFL correlated with HFMSE scores (CNFD: <jats:italic>r<\/jats:italic>\u2009=\u20090.492, <jats:italic>p<\/jats:italic>\u2009=\u20090.038; CNFL: <jats:italic>r<\/jats:italic>\u2009=\u20090.484, <jats:italic>p<\/jats:italic>\u2009=\u20090.042) and distance covered in the 6MWT (CNFD: <jats:italic>r<\/jats:italic>\u2009=\u20090.502, <jats:italic>p<\/jats:italic>\u2009=\u20090.042; CNFL: <jats:italic>r<\/jats:italic>\u2009=\u20090.553, <jats:italic>p<\/jats:italic>\u2009=\u20090.023).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Corneal confocal microscopy CCM reveals sensory neurodegeneration in SMA, thereby supporting a multisystem view of the disorder. Subclinical small nerve fibre damage correlated with motor function. Thus, CCM may be ideally suited for treatment monitoring and prognosis.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15852","type":"journal-article","created":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T21:20:53Z","timestamp":1683753653000},"page":"2821-2827","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Corneal confocal microscopy reveals small nerve fibre loss correlating with motor function in adult spinal muscular atrophy"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7806-9919","authenticated-orcid":false,"given":"Andreas","family":"Thimm","sequence":"first","affiliation":[{"name":"Department of Neurology and Center for Translational Neuro\u2010 and Behavioral Sciences (C\u2010TNBS) University Hospital Essen  Essen 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2774-067X","authenticated-orcid":false,"given":"Benjamin","family":"Stolte","sequence":"additional","affiliation":[{"name":"Department of Neurology and Center for Translational Neuro\u2010 and Behavioral Sciences (C\u2010TNBS) University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Kleinschnitz","sequence":"additional","affiliation":[{"name":"Department of Neurology and Center for Translational Neuro\u2010 and Behavioral Sciences (C\u2010TNBS) University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Stettner","sequence":"additional","affiliation":[{"name":"Department of Neurology and Center for Translational Neuro\u2010 and Behavioral Sciences (C\u2010TNBS) University Hospital Essen  Essen 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