DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West

Journal of the Neurological Sciences
Roland Dominic G JamoraLouis C S Tan

Abstract

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. 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. 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. 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). DYT1 mutations are uncommon amongst adult primary dystonia patients in Singapore.

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Citations

Feb 2, 2010·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S-S ZhangH-F Shang
Sep 10, 2010·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·F B ChengL Y Cui
Mar 17, 2009·BMC Medical Genetics·Jianfeng XiaoMark S LeDoux
Jun 19, 2013·Brain : a Journal of Neurology·Gavin CharlesworthNicholas W Wood
Oct 13, 2012·Journal of the Neurological Sciences·Yongping ChenHui-Fang Shang
Jun 27, 2009·Neurologic Clinics·Cordelia S Schwarz, Susan B Bressman
Apr 29, 2008·Chinese Medical Sciences Journal = Chung-kuo I Hsüeh K'o Hsüeh Tsa Chih·Jing-fang YangBiao Chen
Aug 18, 2012·Neuropathology and Applied Neurobiology·R PaudelH Houlden
Nov 19, 2008·Parkinsonism & Related Disorders·Susan B Bressman
Jun 8, 2021·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Meng-Chen WuChin-Hsien Lin

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