{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T15:12:35Z","timestamp":1760973155413,"version":"build-2065373602"},"reference-count":6,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2008,6,19]],"date-time":"2008-06-19T00:00:00Z","timestamp":1213833600000},"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":[[2008,7,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann\u2010Str\u00e4ussler\u2010Scheinker syndrome (GSS), a genetic PD mainly related to the P102L mutation in the <jats:italic>PRNP<\/jats:italic> gene. Our aim was to screen for the P102L and other six known <jats:italic>PRNP<\/jats:italic> gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult\u2010onset cerebellar ataxia of unknown origin. The patients, negative for the most common acquired and genetic forms, were analyzed using a combination of restriction endonuclease digestion and pyrosequencing; eight, affected by ataxia and cognitive dysfunction, were also sequenced for the <jats:italic>PRNP<\/jats:italic> gene. One patient resulted to be heterozygous for the P102L mutation. Retrospectively, the clinical picture was consistent with a \u201cclassical\u201d GSS phenotype. In conclusion, the screening for the P102L mutation, or even the sequencing of the <jats:italic>PRNP<\/jats:italic> gene should be taken in consideration in patients with late\u2010onset ataxia (&gt;50 years). \u00a9 2008 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.21953","type":"journal-article","created":{"date-parts":[[2008,6,19]],"date-time":"2008-06-19T14:06:24Z","timestamp":1213884384000},"page":"1468-1471","source":"Crossref","is-referenced-by-count":9,"title":["A previously undiagnosed case of Gerstmann\u2010Str\u00e4ussler\u2010Scheinker disease revealed by <i>PRNP<\/i> gene analysis in patients with adult\u2010onset ataxia"],"prefix":"10.1002","volume":"23","author":[{"given":"Claudia","family":"Cagnoli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Brussino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Sbaiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Di Gregorio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristiana","family":"Atzori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Caroppo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Orsi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Migone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Buffa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Imperiale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Brusco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,19]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/bmb\/66.1.213"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0020-1"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-2712(02)00064-1"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awf107"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000346"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000148723.37489.3F"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.21953","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21953","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:34:45Z","timestamp":1760970885000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.21953"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,19]]},"references-count":6,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2008,7,30]]}},"alternative-id":["10.1002\/mds.21953"],"URL":"https:\/\/doi.org\/10.1002\/mds.21953","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2008,6,19]]}}}