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Prevalence and ethnic differences of autosomal‐dominant cerebellar ataxia in Singapore

2002; Wiley; Volume: 62; Issue: 6 Linguagem: Inglês

10.1034/j.1399-0004.2002.620610.x

1399-0004

Yirui Zhao, Ek Khoon Tan, HY Law, CS Yoon, M.C. Wong, I. Ng,

Parkinson's Disease Mechanisms and Treatments

Zhao Y, Tan EK, Law HY, Yoon CS, Wong MC, Ng I. Prevalence and ethnic differences of autosomal‐dominant cerebellar ataxia in Singapore. Clin Genet 2002: 62: 478–481. © Blackwell Munksgaard, 2002 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.