부산대학교 도서관

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.neulet.2006.04.019 Byline: S.W. Lim (a)(b)(g), Y. Zhao (b), E. Chua (a), H.Y. Law (g), Y. Yuen (c), R. Pavanni (a)(d), M.C. Wong (a)(d), I.S. Ng (g), C.S. Yoon (f), K.Y. Puong (b), S.H. Lim (a)(d), E.K. Tan (a)(d)(e) Keywords: SCA2; SCA3; SCA17; Parkinsonism; Parkinson's disease Abstract: Recent reports of SCA2 and SCA3 patients who presented with levodopa responsive parkinsonism have generated considerable interest as they have implications for genetic testing. It is unclear whether ethnic race alone or founder effects within certain geographical region explain such an association. In this study, we conducted genetic analysis of SCA2, 3, 17 in an ethnic Chinese cohort with early onset and familial Parkinson's disease (PD) and healthy controls. A total of 191 subjects comprising of 91 PD and 100 healthy controls were examined. We identified one positive case of SCA2 in an early-onset sporadic PD patient who had CAG 36 repeats, yielding a prevalence of 2.2% in early-onset sporadic PD patients and less than 1.0% in our study PD population. The size of the repeats was lower than the expanded repeats (38-57) in SCA2 patients with ataxia in our population. All the children of the patient were physically normal even though some of them carried the repeat expansion of similar size. No cases and controls were positive for SCA3 and SCA17. We do not think routine screening of SCA2, SCA3 and SCA17 for all idiopathic PD patients is cost-effective in our ethnic Chinese population. However, SCA2 should be a differential diagnosis in young onset sporadic PD when genetic mutations of other known PD genes have been excluded. Author Affiliation: (a) Departments of Neurology, Singapore General Hospital, Outram Road, Singapore 169608, Singapore (b) Departments of Clinical Research, Singapore General Hospital, Singapore (c) Departments of Health Screening, Singapore General Hospital, Singapore (d) National Neuroscience Institute, Singapore (e) SingHealth Research, Singapore (f) KK Women's and Children's Hospital, Singapore (g) Nanyang Polytechnic, Singapore Article History: Received 23 January 2006; Revised 31 March 2006; Accepted 14 April 2006 Article Note: (footnote) [star] The exact age and gender of the SCA2 patient and her children have been disguised for confidentiality reasons.