{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T11:13:01Z","timestamp":1740136381086,"version":"3.37.3"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T00:00:00Z","timestamp":1715040000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T00:00:00Z","timestamp":1715040000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Klinefelter syndrome (47, XXY) is the most common sex chromosome aneuploidy. In addition to male hypergonadotropic hypogonadism, a wide range of neurodevelopmental disorders, anxiety and affective symptoms have been reported in a substantial proportion of cases.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case description<\/jats:title>\n                <jats:p>We document the rare case of a 43-year-old man diagnosed with Klinefelter syndrome and co-morbid Gilles de la Tourette syndrome. He presented with multiple motor and vocal tics since adolescence, as well as anxiety and affective symptoms as his main tic-exacerbating factors. Tic severity was rated as marked (Yale Global Tic Severity Scale score of 78\/100), and recommendations for the treatment of both tics and psychiatric co-morbidities were formulated.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Discussion<\/jats:title>\n                <jats:p>Neurodevelopmental tics in the context of Klinefelter syndrome have been previously documented in three cases only. Gilles de la Tourette syndrome is 3\u20134 times more common in males than females and its etiological factors include multiple genetic components (genetic heterogeneity). Our case report widens the spectrum of neurodevelopmental disorders observed in the context of Klinefelter syndrome and contributes to genetic research on the role of the X chromosome in the pathophysiology of tic disorders.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s10072-024-07573-x","type":"journal-article","created":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T21:01:27Z","timestamp":1715115687000},"page":"4033-4035","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Gilles de la Tourette syndrome as a rare co-morbidity of Klinefelter syndrome"],"prefix":"10.1007","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0925-1255","authenticated-orcid":false,"given":"Andrea E.","family":"Cavanna","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Paini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Purpura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Riva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata","family":"Nacinovich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Seri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,5,7]]},"reference":[{"key":"7573_CR1","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/j.metabol.2017.09.017","volume":"86","author":"GA Kanakis","year":"2018","unstructured":"Kanakis GA, Nieschlag E (2018) Klinefelter syndrome: more than hypogonadism. Metabolism 86:135\u2013144. https:\/\/doi.org\/10.1016\/j.metabol.2017.09.017","journal-title":"Metabolism"},{"key":"7573_CR2","doi-asserted-by":"publisher","first-page":"109","DOI":"10.2174\/1871530318666180703160250","volume":"19","author":"VA Giagulli","year":"2019","unstructured":"Giagulli VA, Campone B, Castellana M et al (2019) Neuropsychiatric aspects in men with Klinefelter syndrome. Endocr Metab Immune Disord Drug Targets 19:109\u2013115. https:\/\/doi.org\/10.2174\/1871530318666180703160250","journal-title":"Endocr Metab Immune Disord Drug Targets"},{"doi-asserted-by":"publisher","unstructured":"Ali F, Morrison KE, Cavanna AE (2013) The complex genetics of Gilles de la Tourette syndrome: implications for clinical practice. Neuropsychiatry 3:321\u2013330. https:\/\/doi.org\/10.2217\/npy.13.25","key":"7573_CR3","DOI":"10.2217\/npy.13.25"},{"doi-asserted-by":"publisher","unstructured":"Cavanna AE (2018) Gilles de la Tourette syndrome as a paradigmatic neuropsychiatric disorder. CNS Spectr 23:213\u2013218. https:\/\/doi.org\/10.1017\/S1092852918000834","key":"7573_CR4","DOI":"10.1017\/S1092852918000834"},{"key":"7573_CR5","first-page":"134","volume":"1","author":"K Louhivuori","year":"1969","unstructured":"Louhivuori K, Jakobson T (1969) Prepubertal Klinefelter\u2019s syndrome. Child psychiatric aspects illustrated by two case reports. Ann Clin Res 1:134\u2013139","journal-title":"Ann Clin Res"},{"doi-asserted-by":"crossref","unstructured":"De Almeida LB, Okun M, Malaty I (2015) Co-occurrence of Klinefelter syndrome and tourettism: a case report. Neurology 84:P3.029. https:\/\/www.neurology.org\/doi\/abs\/10.1212\/WNL.84.14_supplement.P3.029","key":"7573_CR6","DOI":"10.1212\/WNL.84.14_supplement.P3.029"},{"key":"7573_CR7","doi-asserted-by":"publisher","first-page":"8077","DOI":"10.1038\/s41467-023-43776-0","volume":"14","author":"S Wang","year":"2023","unstructured":"Wang S, Wang B, Drury V et al (2023) Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD. Nat Commun 14:8077. https:\/\/doi.org\/10.1038\/s41467-023-43776-0","journal-title":"Nat Commun"},{"key":"7573_CR8","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1002\/ajmg.b.32186","volume":"162B","author":"L Melchior","year":"2013","unstructured":"Melchior L, Bertelsen B, Debes NM et al (2013) Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities. Am J Med Genet B Neuropsychiatr Genet 162B:825\u2013831. https:\/\/doi.org\/10.1002\/ajmg.b.32186","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"7573_CR9","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1093\/hmg\/ddx411","volume":"27","author":"SB Winge","year":"2018","unstructured":"Winge SB, Dalgaard MD, Jensen JM et al (2018) Transcriptome profiling of fetal Klinefelter testis tissue reveals a possible involvement of long non-coding RNAs in gonocyte maturation. Hum Mol Genet 27:430\u2013439. https:\/\/doi.org\/10.1093\/hmg\/ddx411","journal-title":"Hum Mol Genet"},{"doi-asserted-by":"publisher","unstructured":"Skakkeb\u00e6k A, Nielsen MM, Trolle C et al (2018) DNA hypermethylation and differential gene expression associated with Klinefelter syndrome. 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