title: Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore.
abstract: We report the prevalence and ethnic differences of autosomal-dominant cerebellar ataxia (ADCA) in Singapore. Amongst 204 patients with ataxia who underwent genetic testing for dentatorubral-pallidoluysian atrophy (DRPLA) and for spinocerebellar ataxias (SCA) 1, 2, 3, 6, 7, 8, 10 and 12, 58 (28.4%) patients from 36 families tested positive. SCA 3 was identified in 31 (53.4%) patients from 15 families, SCA 2 in 17 (29.3%) patients from 12 families and SCA 1 in four (6.9%) patients from four families. Other SCA subtypes were rare. SCA 2 was the only subtype identified amongst ethnic Malay and ethnic Indian families. The estimated prevalence of ADCA in Singaporean families was at least 1 : 27,000. Based on the history and ancestry of Singaporeans, our study supported a founder effect for specific SCA subtypes and the association of ethnicity-specific SCA subtypes. Our findings suggest that SCA 2 is relatively common amongst the Malay race and that priority testing for SCA 3 and SCA 2 for ethnic Chinese, and SCA 2 for ethnic Malay, may be cost effective and relevant for the region.
authors.affiliation: Department of Clinical Research, Singapore General Hospital, Singapore. gnrtek@sgh.com.sg
authors.forename: Y
authors.initials: Y
authors.lastname: Zhao
authors.forename: E K
authors.initials: EK
authors.lastname: Tan
authors.forename: H Y
authors.initials: HY
authors.lastname: Law
authors.forename: C S
authors.initials: CS
authors.lastname: Yoon
authors.forename: M C
authors.initials: MC
authors.lastname: Wong
authors.forename: I
authors.initials: I
authors.lastname: Ng
mesh_terms: D002524:Cerebellar Ataxia / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D002681:China / Q000208:ethnology; D005006:Ethnicity / Q000235:genetics*; D005192:Family Health; D018703:Founder Effect; D005799:Genes, Dominant; D006801:Humans; D008296:Malaysia / Q000208:ethnology; D015995:Prevalence; D012846:Singapore / Q000453:epidemiology