{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T15:52:37Z","timestamp":1761580357978},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,12,2]],"date-time":"2005-12-02T00:00:00Z","timestamp":1133481600000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Sleep Research"],"published-print":{"date-parts":[[2005,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report the video\u2010polysomnographic sleep characteristics of a 25\u2010year\u2010old woman with the Mulvihill\u2010Smith syndrome, a rare clinical condition characterized by progeria\u2010like aspect, peculiar multiple pigmented nevi, low stature, and cognitive impairment. Among the various exams, two overnight video\u2010polysomnographic recordings were carried out; moreover, cerebral MRI and molecular analysis of the prion protein gene (PRNP) were also performed. The video\u2010polysomnographic recordings showed the absence of clear sleep episodes but the presence of periods during which the patient had poor contact with the environment, stereotyped afinalistic movements of the upper limbs and hands, irregular or periodic breathing (with central apnea episodes), heart rate arrhythmia, and rapid eye movements. Cerebral MRI showed only diffuse mild enlargement of the cortical sulci and the molecular genetics analysis of the PRNP was normal. Our clinical and neurophysiological study seems to indicate that a particular condition of severe sleep disruption, similar to some extent to that reported in the fatal familial insomnia and in the Morvan fibrillary chorea, which has been indicated as <jats:italic>Agrypnia Excitata<\/jats:italic> in recent literature, might be associated with the Mulvihill\u2010Smith syndrome. The inclusion of a detailed study on the sleep characteristics of eventual additional patients will certainly help our understanding of this rare condition.<\/jats:p>","DOI":"10.1111\/j.1365-2869.2005.00465.x","type":"journal-article","created":{"date-parts":[[2005,12,2]],"date-time":"2005-12-02T10:46:56Z","timestamp":1133520416000},"page":"463-470","source":"Crossref","is-referenced-by-count":23,"title":["<i>Agrypnia excitata<\/i> in a patient with progeroid short stature and pigmented Nevi (Mulvihill\u2010Smith syndrome)"],"prefix":"10.1111","volume":"14","author":[{"given":"RAFFAELE","family":"FERRI","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"BARTOLO","family":"LANUZZA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"FILOMENA I. 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