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

Jamora, Roland Dominic G; Tan, Eng-King; Liu, Chun-Ping; Kathirvel, Paramasivam; Burgunder, Jean-Marc; Tan, Louis C S (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), pp. 35-7. Amsterdam: Elsevier 10.1016/j.jns.2006.03.009

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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.

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology
UniBE Contributor:	Burgunder, Jean-Marc
ISSN:	0022-510X
ISBN:	16631205
Publisher:	Elsevier
Language:	English
Submitter:	Factscience Import
Date Deposited:	04 Oct 2013 14:50
Last Modified:	05 Dec 2022 14:15
Publisher DOI:	10.1016/j.jns.2006.03.009
PubMed ID:	16631205
Web of Science ID:	000240302600006
URI:	https://boris.unibe.ch/id/eprint/20961 (FactScience: 4773)