{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T22:37:06Z","timestamp":1775083026303,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2003,8,21]],"date-time":"2003-08-21T00:00:00Z","timestamp":1061424000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2003,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a patient with adult\u2010onset Niemann\u2010Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the <jats:italic>NPC1<\/jats:italic> gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography perfusional, positron emission tomography metabolic, conventional magnetic resonance imaging, and magnetic resonance spectroscopy findings suggested a pathophysiological correlation with phenotype expression. This case expands the clinical and genetic spectrum of the rare adult\u2010onset NPC disease phenotype. \u00a9 2003 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.10541","type":"journal-article","created":{"date-parts":[[2003,11,20]],"date-time":"2003-11-20T13:19:27Z","timestamp":1069334367000},"page":"1405-1409","source":"Crossref","is-referenced-by-count":36,"title":["Adult onset Niemann\u2010Pick type C disease: A clinical, neuroimaging and molecular genetic study"],"prefix":"10.1002","volume":"18","author":[{"given":"Carla","family":"Battisti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizla","family":"Tarugi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa","family":"Dotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"De Stefano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Vattimo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesea","family":"Chierichetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastiano","family":"Calandra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Federico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,8,21]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1388-1981(00)00158-X"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5323.228"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5500.2295"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5500.2298"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.9.707"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00599187"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(91)90069-L"},{"key":"e_1_2_7_9_2","volume-title":"Molecular cloning. 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