{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:23:14Z","timestamp":1790677394994,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,11,15]],"date-time":"2018-11-15T00:00:00Z","timestamp":1542240000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Late\u2010onset Pompe disease (<jats:styled-content style=\"fixed-case\">LOPD<\/jats:styled-content>) is a rare, multisystem disorder that is well established to mainly impair skeletal muscle function. Systematic studies exploring brain functions in <jats:styled-content style=\"fixed-case\">LOPD<\/jats:styled-content> are lacking. The aim of this study was to detect morphological and functional brain alterations as well as neuropsychological impairment in <jats:styled-content style=\"fixed-case\">LOPD<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We studied 21 patients (10 male, mean age 49\u00a0\u00b1\u00a018.4\u00a0years) with defined diagnosis of <jats:styled-content style=\"fixed-case\">LOPD<\/jats:styled-content>, divided into two groups: one with pre\u2010symptomatic hyper<jats:styled-content style=\"fixed-case\">CK<\/jats:styled-content>emia with no muscle weakness and the second with limb\u2010girdle muscle weakness. All patients underwent 3T magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>) to obtain morphological\/angiographic evaluation as well as normalized cortical brain volume and resting\u2010state functional <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>. Fazekas score was applied to quantify white matter lesions, whereas Smoker's criteria were used to examine dolichoectasia. A complete neuropsychological assessment was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> data showed that 12\/21 patients (57%) demonstrated signs of cerebral vasculopathy, with a Fazekas score &gt;2 in 67%. According to Smoker's criteria, 11\/21 patients (52%) had a dolichoectasia of the vertebrobasilar system; an intracranial aneurysm was detected in 3\/21 patients (14%). Resting\u2010state functional <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> demonstrated significantly decreased brain connectivity in the salience network with a more relevant reduction in the bilateral middle and superior frontal gyrus. Gray matter atrophy correlated with age and disease duration. A mild impairment in executive functions was also identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In this <jats:styled-content style=\"fixed-case\">LOPD<\/jats:styled-content> cohort the results showed morphological and functional brain alterations with mild neuropsychological dysfunction, mainly in the limb\u2010girdle muscle weakness group. Cerebrovascular alterations seemed to be not related to common risk factors, suggesting a major role of enzymatic deficiency in the pathogenesis of brain abnormalities.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13835","type":"journal-article","created":{"date-parts":[[2018,10,12]],"date-time":"2018-10-12T19:49:07Z","timestamp":1539373747000},"page":"442","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Central nervous system involvement in late\u2010onset Pompe disease: clues from neuroimaging and neuropsychological analysis"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9208-1527","authenticated-orcid":false,"given":"O.","family":"Musumeci","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Messina 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