{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T12:02:49Z","timestamp":1784203369366,"version":"3.55.0"},"reference-count":42,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,6,21]],"date-time":"2019-06-21T00:00:00Z","timestamp":1561075200000},"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":[[2019,9]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Congenital disorders of glycosylation (<jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content>) represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease onset in infancy or early childhood. Most <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content> are multisystemic diseases mainly affecting the central nervous system. The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content> and to characterize phenomenology based on <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content> subtypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Subjects were identified from a cohort of patients with <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content> who were referred to the University Hospital of Catania, Italy. Patients were evaluated by neurologists with expertise in movement disorders and videotaped using a standardized protocol.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A variety of hyperkinetic movement disorders was detected in eight unrelated <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content> patients. Involuntary movements were generally observed early in childhood, maintaining a clinical stability over time. Distribution ranged from a generalized, especially in younger subjects, to a segmental\/multifocal involvement. In patients with phosphomannomutase 2 <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content>, the principal movement disorders included dystonia and choreo\u2010athetosis. In patients affected by other <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content> types, the movement disorders ranged from pure generalized chorea to mixed movement disorders including dystonia and complex stereotypies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Hyperkinetic movement disorder is a key clinical feature in patients with <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content>. <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content> should be considered in the differential diagnosis of childhood\u2010onset dyskinesia, especially when associated with ataxia, developmental delay, intellectual disability, autism or seizure disorder.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14007","type":"journal-article","created":{"date-parts":[[2019,5,27]],"date-time":"2019-05-27T13:46:33Z","timestamp":1558964793000},"page":"1226-1234","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Hyperkinetic movement disorders in congenital disorders of glycosylation"],"prefix":"10.1111","volume":"26","author":[{"given":"G.","family":"Mostile","sequence":"first","affiliation":[{"name":"Neurology Clinic Department \u2018G.F. 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