{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T05:22:15Z","timestamp":1770355335530,"version":"3.49.0"},"reference-count":92,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"vor","delay-in-days":19,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Myotonic dystrophy type 1 is a dominantly inherited disorder, affecting musculoskeletal and central nervous systems and mainly characterized by progressive muscular atrophy and multisystemic damages including cardiac, respiratory and sleep dysfunctions. Neuroimaging studies conducted in myotonic dystrophy type 1 patients have documented widespread cerebral alterations encompassing structural, microstructural, functional and metabolic aspects of the brain, while comparatively few studies have investigated the role of iron concentration in the pathophysiology of central nervous system impairment. We report here the use of quantitative susceptibility (\u03c7) mapping to explore iron content of both cortical and subcortical structures in myotonic dystrophy type 1 patients and to assess its possible clinical relevance, combining imaging and clinical data. Thirty-four myotonic dystrophy type 1 participants (20 females, 46.8 \u00b1 12.0 years old) and 35 age- and sex- matched healthy controls (20 females, 50.5 \u00b1 17.3 years old) were included in the study. All participants underwent MRI examinations in the same 3-Tesla scanner. The MRI protocol included 3D morphological T1-weighted magnetization prepared rapid gradient echo and T2*weighted multi-echo gradient echo for quantitative susceptibility mapping reconstruction. Cortical and subcortical structures were automatically segmented, and a volume of interest\u2013based analysis was performed; \u03c7 distributions were compared between the two groups and myotonic dystrophy type 1 \u03c7 values were correlated with clinical and laboratory data. In the myotonic dystrophy type 1 group, a significant increase of \u03c7 was found in almost all cortical gyri, as a non-specific sign of neurodegeneration. Among subcortical structures, \u03c7 was significantly higher in myotonic dystrophy type 1 group in both thalamus (ventral and pulvinar nuclei) and brainstem (pons and medulla), compared to healthy controls. Additionally, correlation analysis showed some links between \u03c7 in subcortical structures and clinical signs, suggesting greater iron concentration with deterioration of clinical conditions. Thalamic \u03c7 values were associated with cardiological parameters and disability scores and, as with brainstem \u03c7, they were also positively correlated with the number of central apnoeas; finally, thalamic and brainstem \u03c7 were negatively correlated with the age of onset. This study showed a correlation between autonomic dysfunction related to certain subcortical structures and their \u03c7; higher values of \u03c7 correlated with greater functional impairment, suggesting iron accumulation detected by the quantitative susceptibility mapping technique is a possible biomarker of disease progression.<\/jats:p>","DOI":"10.1093\/braincomms\/fcag017","type":"journal-article","created":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T12:29:59Z","timestamp":1768652999000},"source":"Crossref","is-referenced-by-count":0,"title":["Quantitative susceptibility mapping in myotonic dystrophy: clinical relevance of subcortical iron accumulation"],"prefix":"10.1093","volume":"8","author":[{"given":"Cristiana","family":"Fiscone","sequence":"first","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences, University of Bologna , Bologna 40126 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magali J","family":"Rochat","sequence":"additional","affiliation":[{"name":"Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"De Pasqua","sequence":"additional","affiliation":[{"name":"UOC Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micaela","family":"Mitolo","sequence":"additional","affiliation":[{"name":"Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 ,","place":["Italy"]},{"name":"Department of Medicine and Surgery, University of Parma , Parma 43125 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianfranco","family":"Vornetti","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences, University of Bologna , Bologna 40126 ,","place":["Italy"]},{"name":"Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiorina","family":"Bartiromo","sequence":"additional","affiliation":[{"name":"Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenzo","family":"Cirignotta","sequence":"additional","affiliation":[{"name":"Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna , Bologna 40138 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabio","family":"Pizza","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences, University of Bologna , Bologna 40126 ,","place":["Italy"]},{"name":"UOC Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianna","family":"Nardozza","sequence":"additional","affiliation":[{"name":"Cardiology Department, Bellaria Hospital , Bologna 40139 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greta","family":"Venturi","sequence":"additional","affiliation":[{"name":"Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David Neil","family":"Manners","sequence":"additional","affiliation":[{"name":"Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 ,","place":["Italy"]},{"name":"Department for Life Quality Sciences, University of Bologna , Rimini 47921 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Avoni","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences, University of Bologna , Bologna 40126 ,","place":["Italy"]},{"name":"UOC Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rocco","family":"Liguori","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences, University of Bologna , Bologna 40126 ,","place":["Italy"]},{"name":"UOC Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caterina","family":"Tonon","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences, University of Bologna , Bologna 40126 ,","place":["Italy"]},{"name":"Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaele","family":"Lodi","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences, University of Bologna , Bologna 40126 ,","place":["Italy"]},{"name":"Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,1,20]]},"reference":[{"key":"2026020510113583900_fcag017-B1","volume-title":"Myotonic dystrophy","author":"Harper","year":"2001","edition":"3rd ed"},{"issue":"3","key":"2026020510113583900_fcag017-B2","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1055\/s-0032-1329202","article-title":"Myotonic dystrophy: From bench to 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