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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/27233
Title: Frequencies of spinocerebellar ataxia subtypes in Thailand: Window to the population history
Authors: Thanyachai Sura
Jakris Eu-Ahsunthornwattana
Supak Youngcharoen
Manisa Busabaratana
Donniphat Dejsuphong
Objoon Trachoo
Supischa Theerasasawat
Atchara Tunteeratum
Chinnakrit Noparutchanodom
Supoch Tunlayadechanont
Mahidol University
Ratchaburi Regional Hospital
Faculty of Medicine, Ramathibodi Hospital, Mahidol University
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-May-2009
Citation: Journal of Human Genetics. Vol.54, No.5 (2009), 284-288
Abstract: Spinocerebellar ataxias (SCAs) are a heterogeneous group of disorders with almost 30 subtypes. The prevalence and relative frequency of each subtype vary among different populations. In this article, we report the relative frequency of six SCA subtypes in the Thai population and attempt to explain the observed pattern when compared with other populations in this region. We searched for SCA type 1, SCA2, SCA3, SCA6, SCA7 and dentatorubral-pallidoluysian atrophy mutations using GeneScan analysis in 340 patients from 182 families, in which at least one person had a clinical diagnosis of SCA. We analyzed the relative frequencies of SCA subtypes on a family basis, and compared these with the data in the Chinese and Indian populations. SCA3 was found in 19.2% of the patients (Agresti-Coull 95% confidence interval: 14.1-25.6%), SCA1 in 11.5% (7.6-17.1%) and SCA2 in 10.4% (6.7-15.8%). SCA6 was found in three families, with a relative frequency of 1.6% (0.3-5.0%). Compared with the related populations, the Thai SCA3 frequency was less than that of the Chinese, whereas it was higher than that in most of the Indian studies. The reverse is true for the SCA1/SCA2 frequency. A similar study in Singapore, where there was a clear history of population admixture, also showed the frequencies between those of the Chinese and the Indian populations. Although SCA3 was the most common identifiable SCA subtype in Thailand, SCA1 and SCA2 were also relatively common. Our results also supported some degree of admixture with the Indians in the Thai population and justify further study in the area. © 2009 The Japan Society of Human Genetics. All rights reserved.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=67649511006&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/27233
ISSN: 14345161
Appears in Collections:Scopus 2006-2010

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