{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T09:41:47Z","timestamp":1791106907721,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2005,7,8]],"date-time":"2005-07-08T00:00:00Z","timestamp":1120780800000},"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":[[2005,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive spastic ataxia of Charlevoix\u2013Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early\u2010onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense <jats:italic>SACS<\/jats:italic> mutation (7848C&gt;T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C&gt;T is the first <jats:italic>SACS<\/jats:italic> mutation reported in Spain confirming worldwide distribution of the disease. \u00a9 2005 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20579","type":"journal-article","created":{"date-parts":[[2005,7,8]],"date-time":"2005-07-08T16:40:33Z","timestamp":1120840833000},"page":"1358-1361","source":"Crossref","is-referenced-by-count":46,"title":["Novel mutation of <i>SACS<\/i> gene in a Spanish family with autosomal recessive spastic ataxia"],"prefix":"10.1002","volume":"20","author":[{"given":"Chiara","family":"Criscuolo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Sacc\u00e0","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"De Michele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onofre","family":"Combarros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon","family":"Infante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Garcia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandro","family":"Banfi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Filla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Berciano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,7,8]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00055-8"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/72769"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.7.1408"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-004-0179-y"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.62.1.100"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000104491.66816.77"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.7.982"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000099371.14478.73"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20315"},{"key":"e_1_2_7_11_2","doi-asserted-by":"crossref","first-page":"36","DOI":"10.33588\/rn.3101.2000101","article-title":"Charlevoix\u2010Saguenay type recessive spastic ataxia. Report of a Spanish case","volume":"31","author":"Pascual\u2010Cstroviejo I","year":"2000","journal-title":"Rev Neurol"},{"key":"e_1_2_7_12_2","unstructured":"RobitailleY RichterA MathieuJ et al. ARSACS In: GeneReviews at GeneTests: medical genetics information resource (database online). Copyright University of Washington Seattle.1997\u20132004. Available at:http:\/\/www.genetests.org. Accessed 9 December 2003."},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1993.1413"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.20579","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.20579","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:30:38Z","timestamp":1760970638000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.20579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,7,8]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2005,10]]}},"alternative-id":["10.1002\/mds.20579"],"URL":"https:\/\/doi.org\/10.1002\/mds.20579","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,7,8]]}}}