{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:22:55Z","timestamp":1790677375116,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T00:00:00Z","timestamp":1366675200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Late\u2010onset glycogenosis type II (GSD II) is a rare, multisystem disorder mainly affecting limb and respiratory muscles due to acid alpha glucosidase deficiency. Despite evidence at autopsy of glycogen accumulation in the brain, no study exploring brain functions is yet available.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>Our objective in this study was to assess brain changes in late\u2010onset GSD II.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Each patient underwent a standardized neuropsychological assessment, regional grey\u2010matter (GM) atrophy, and resting\u2010state functional magnetic resonance imaging (RS\u2010fMRI). Functional connectivity maps of the salience (SN) and default\u2010mode (DMN) networks were considered. A group of age\u2010 and gender\u2010matched healthy controls was enrolled for MRI comparisons. <jats:italic>P<\/jats:italic> values family\u2010wise error (FWE) cluster level corrected inferior to 0.05 were considered.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Nine GSD II patients (age 46.6\u2009\u00b1\u20098.0; 55 % male) were recruited. No significant GM atrophy was found in patients compared with controls (<jats:italic>n<\/jats:italic>\u2009=\u200918; age 48.0\u2009\u00b1\u20099.8,;40 % male). Functional connectivity within the SN was selectively reduced in patients, and cingulate gyrus and medial frontal cortex were mainly involved. Accordingly, patients had significant impairment of executive functions (as measured by Wisconsin Card Sorting test), whereas other cognitive domains were within mean normal ranges.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings extend the clinical spectrum of GSD II by indicating that brain changes occur in this muscular disorder. Above all, these results should lead to better examinations of therapeutic approaches and perspectives for the affected patients. Further studies evaluating in depth these issues are warranted.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-013-9601-7","type":"journal-article","created":{"date-parts":[[2013,4,22]],"date-time":"2013-04-22T11:03:46Z","timestamp":1366628626000},"page":"989-995","source":"Crossref","is-referenced-by-count":13,"title":["The brain in late\u2010onset glycogenosis II: a structural and functional MRI study"],"prefix":"10.1002","volume":"36","author":[{"given":"Barbara","family":"Borroni","sequence":"first","affiliation":[{"name":"Neurology Unit University of Brescia Piazza Spedali Civili 1 Brescia 25125 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. S.","family":"Cotelli","sequence":"additional","affiliation":[{"name":"Neurology Unit University of Brescia Piazza Spedali Civili 1 Brescia 25125 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Premi","sequence":"additional","affiliation":[{"name":"Neurology Unit University of Brescia Piazza Spedali Civili 1 Brescia 25125 Italy"},{"name":"Neurology Unit ValleCamonica Hospital Esine Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Gazzina","sequence":"additional","affiliation":[{"name":"Neurology Unit University of Brescia Piazza Spedali Civili 1 Brescia 25125 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Cosseddu","sequence":"additional","affiliation":[{"name":"Neurology Unit University of Brescia Piazza Spedali Civili 1 Brescia 25125 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