Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.jns.2006.03.009
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dc.titleDYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West
dc.contributor.authorJamora, R.D.G.
dc.contributor.authorTan, E.-K.
dc.contributor.authorTan, L.C.S.
dc.contributor.authorLiu, C.-P.
dc.contributor.authorKathirvel, P.
dc.contributor.authorBurgunder, J.-M.
dc.date.accessioned2011-09-27T05:16:08Z
dc.date.available2011-09-27T05:16:08Z
dc.date.issued2006
dc.identifier.citationJamora, R.D.G., Tan, E.-K., Tan, L.C.S., Liu, C.-P., Kathirvel, P., Burgunder, J.-M. (2006). DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West. Journal of the Neurological Sciences 247 (1) : 35-37. ScholarBank@NUS Repository. https://doi.org/10.1016/j.jns.2006.03.009
dc.identifier.issn0022510X
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/26833
dc.description.abstractBackground: Dystonia is a heterogenous group of movement disorders whose clinical spectrum is very wide. At least 13 different genes and gene loci have been reported. While a 3-bp deletion in the DYT1 gene is the most frequent cause of early limb-onset, generalized dystonia, it has also been found in non-generalized forms of sporadic dystonia. An 18-bp deletion in the DYT1 gene has also been reported. Objectives: We screened for the 3-bp and 18-bp deletions in the DYT1 gene among our sporadic, adult-onset primary dystonia patients in Singapore. We reviewed the literature to compare the frequency of DYT1 mutation between the East and the West. Methods: We screened 54 patients with primary dystonia (focal: n = 41; segmental: n = 11; multifocal: n = 1; generalized: n = 1) for the deletions in the DYT1 gene. A careful review of all published literature on DYT1 screening among sporadic, non-familial, non-Ashkenazi Jewish patients was done. Results: We did not detect any mutations in the exon 5 of the DYT1 gene in any of our patients. The frequency of DYT1 mutation amongst Asians (1.0%) was comparable to the West (1.56%) (p = NS). Conclusions: DYT1 mutations are uncommon amongst adult primary dystonia patients in Singapore. © 2006 Elsevier B.V. All rights reserved.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1016/j.jns.2006.03.009
dc.sourceScopus
dc.subjectDYT1
dc.subjectMovement disorders
dc.subjectPrimary dystonia
dc.typeArticle
dc.contributor.departmentMEDICINE
dc.description.doi10.1016/j.jns.2006.03.009
dc.description.sourcetitleJournal of the Neurological Sciences
dc.description.volume247
dc.description.issue1
dc.description.page35-37
dc.identifier.isiut000240302600006
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