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Radially sampled Averaged Magnetization Inversion Recovery Acquisitions (rAMIRA) MR-imaging enables spinal cord (SC) gray matter (GM) delineation and quantification in vivo. This study aims to assess SC GM atrophy in patients with 5q-SMA and its associations with clinical disability.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Twenty-one patients with 5q-SMA and twenty-one age- and sex-matched healthy controls (HCs) prospectively underwent 3\u00a0T axial 2D-rAMIRA MR-imaging at the intervertebral disc levels C2\/C3-C5\/C6 and T<jats:sub>max<\/jats:sub> (lumbar enlargement level). Associations between SC GM areas with muscle strength tested by dynamometry, Motor Function Measure (MFM), revised upper limb module (RULM), Revised Hammersmith Scale (RHS), and SMA-Functional Rating Scale (SMA-FRS) were assessed by Spearman Rank correlations and linear regression analysis.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Compared to HCs, patients had significantly reduced SC GM areas at levels C3\/C4 (relative reduction (RR)\u2009=\u200913.6%, p\u2009&lt;\u20090.0001); C4\/C5 (RR\u2009=\u200916.7%, p\u2009&lt;\u20090.0001), C5\/C6 (RR\u2009=\u200917.1%, p\u2009&lt;\u20090.0001), and T<jats:sub>max<\/jats:sub> (RR\u2009=\u200917.4%, p\u2009&lt;\u20090.0001). Significant correlations were found between cervical SC GM areas and muscle strength, RULM, MFM, RHS, and SMA-FRS. In linear regression analysis, GM area C3\/C4 explained 33% of RHS variance.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>SC GM atrophy is detectable in patients with 5q-SMA and is consistently associated with clinical measures of upper limb function, physiotherapeutic assessments, and SMA-FRS indicating the clinical relevance of the observed atrophy. Further longitudinal investigations are necessary next steps to evaluate this novel and easily applicable imaging marker as a potential disease course and therapeutic response marker.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s00415-024-12740-3","type":"journal-article","created":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T11:14:13Z","timestamp":1736248453000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Spinal cord gray matter atrophy is associated with disability in spinal muscular atrophy"],"prefix":"10.1007","volume":"272","author":[{"given":"Eva Maria","family":"Kesenheimer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Janina","family":"Wendebourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Weidensteiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Sander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Weigel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Haas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Neuwirth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Braun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Granziera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Sinnreich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Bieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2056-5765","authenticated-orcid":false,"given":"Regina","family":"Schlaeger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,7]]},"reference":[{"issue":"6266","key":"12740_CR1","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1038\/344540a0","volume":"344","author":"LM Brzustowicz","year":"1990","unstructured":"Brzustowicz LM, Lehner T, Castilla LH et al (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2\u201313.3. 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