{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:19:06Z","timestamp":1763036346634,"version":"build-2065373602"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2008,11,12]],"date-time":"2008-11-12T00:00:00Z","timestamp":1226448000000},"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":[[2009,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spastic paraplegias (HSPs) and dystonias (DYTs) typically localize to different neuroanatomic systems. We report clinical and genetic data from large Ohio kindred with autosomal dominant (AD) HSP and DYT. Single and multipoint linkage using microsatellite and single nucleotide polymorphism array genotyping were performed on a large, multigenerational family with a novel, AD, highly penetrant neurological disease causing spasticity and DYT. Age of onset of spasticity and weakness is from the first year to the sixth decade, and age of onset of DYT from the first to third decade. There is no ataxia or apparent cognitive involvement. Neuroimaging and peripheral neurophysiology are normal. Generalized DYT improved markedly with deep brain stimulation in 1 child. The disease locus was mapped to a region on chromosome 2q 24\u201331, flanked by markers rs1424937\u2013rs1559510, proximal to SPG13, in a region where there are no known HSP or DYT genes. A secondary analysis for candidate genes segregating with the DYT phenotype revealed two candidate regions with parametric lod scores above 2.0. On the basis of clinical presentation and linkage results, we conclude that this disease is a novel neurological disorder. Identifying the causative gene may elucidate an important pathway for pyramidal and extrapyramidal disorders. \u00a9 2008 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.22363","type":"journal-article","created":{"date-parts":[[2008,11,12]],"date-time":"2008-11-12T21:41:54Z","timestamp":1226526114000},"page":"364-370","source":"Crossref","is-referenced-by-count":16,"title":["A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24\u20102q31"],"prefix":"10.1002","volume":"24","author":[{"given":"Donald L.","family":"Gilbert","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth J.","family":"Leslie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehdi","family":"Keddache","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy D.","family":"Leslie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,2,23]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/339935"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.44.10.871"},{"key":"e_1_2_7_4_2","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/B978-0-443-07941-2.50016-4","volume-title":"Principles and practice of movement disorders","author":"Fahn S","year":"2007"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/123.6.1112"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0967-5868(03)00157-7"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2004.05.015"},{"key":"e_1_2_7_8_2","first-page":"683","article-title":"A family of hereditary spastic paraplegia with dementia, ataxia, and dystonia","volume":"41","author":"Maruta K","year":"2001","journal-title":"Rinsho Shinkeigaku (Clin Neurol)"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.2.260"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.3171\/jns.2004.101.2.0189"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10411"},{"key":"e_1_2_7_12_2","first-page":"468","article-title":"The DYT1 gene on 9q34 is responsible for most cases of early limb\u2010onset idiopathic torsion dystonia in non\u2010Jews","volume":"55","author":"Kramer PL","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000244413.49258.f5"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.11.1779"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22363","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.22363","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:18:30Z","timestamp":1760966310000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.22363"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,15]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,2,15]]}},"alternative-id":["10.1002\/mds.22363"],"URL":"https:\/\/doi.org\/10.1002\/mds.22363","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2009,2,15]]}}}