Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.jns.2006.03.009
Title: DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West
Authors: Jamora, R.D.G.
Tan, E.-K.
Tan, L.C.S.
Liu, C.-P.
Kathirvel, P.
Burgunder, J.-M. 
Keywords: DYT1
Movement disorders
Primary dystonia
Issue Date: 2006
Source: Jamora, 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
Abstract: Background: 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.
Source Title: Journal of the Neurological Sciences
URI: http://scholarbank.nus.edu.sg/handle/10635/26833
ISSN: 0022510X
DOI: 10.1016/j.jns.2006.03.009
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