{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T14:51:48Z","timestamp":1788360708702,"version":"build-2803163510"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2005,6,28]],"date-time":"2005-06-28T00:00:00Z","timestamp":1119916800000},"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>GM1 gangliosidosis is due to \u03b2\u2010galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non\u2010Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic\u2013rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early\u2010onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia. \u00a9 2005 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20593","type":"journal-article","created":{"date-parts":[[2005,6,28]],"date-time":"2005-06-28T17:20:56Z","timestamp":1119979256000},"page":"1366-1369","source":"Crossref","is-referenced-by-count":89,"title":["Dystonia and parkinsonism in GM1 type 3 gangliosidosis"],"prefix":"10.1002","volume":"20","author":[{"given":"Emmanuel","family":"Roze","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduard","family":"Paschke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Lopez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Eck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunihiro","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Maurel\u2010Ollivier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Doummar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Caillaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Galanaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Billette De Villemeur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Vidailhet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Roubergue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,28]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310316"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20193"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071535"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00878872"},{"key":"e_1_2_8_6_2","first-page":"1004","article-title":"Mutations in the lysosomal beta\u2010galactosidase gene that cause the adult form of GM1 gangliosidosis","volume":"54","author":"Chakraborty S","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(97)00139-1"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb01185.x"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.12.2376"},{"key":"e_1_2_8_10_2","first-page":"631","article-title":"Two siblings of type 3 GM1 gangliosidosis with different clinical features and different ages of onset","volume":"33","author":"Yamashita M","year":"1993","journal-title":"Rinsho Shinkeigaku"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100570"},{"key":"e_1_2_8_12_2","first-page":"3775","volume-title":"The metabolic and molecular basis of inherited disease","author":"Suzuki Y","year":"2001"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.20593","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.20593","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:30:39Z","timestamp":1760970639000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.20593"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,6,28]]},"references-count":11,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2005,10]]}},"alternative-id":["10.1002\/mds.20593"],"URL":"https:\/\/doi.org\/10.1002\/mds.20593","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,6,28]]}}}