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Spinocerebellar ataxia type 17 in the Yugoslav population

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Abstract:

Alendar A, Čuljković B, Savić D, Djarmati A, Keckarević M, Ristić A, Dragašević N, Kosić V, Romac S. Spinocerebellar ataxia type 17 in the Yugoslav population.

Acta Neurol Scand 2003 DOI: 10.1046/j.1600-0404.2003.00196.x © Blackwell Munksgaard 2003. Objectives –

(1) Analysis of Spinocerebellar ataxia type 17 (SCA17) locus in a group of ataxic patients excluded on other known SCAs; (2) assessment of frequency distributions of SCA17 alleles in the Yugoslav population. Material and methods –

Study includes 115 non-related Yugoslav patients belonging to autosomal-dominant cerebellar ataxias or to sporadic idiopathic adult-onset ataxia and 115 controls. Analysis of SCA17 locus was performed using polymerase chain reaction. Results –

None of the analyzed patients show the presence of mutation in SCA17 locus. In the group of patients 12 different alleles in the range of 30–42 repeats were observed, while in healthy population eight alleles in the range of 30–40 repeats were detected. Conclusion –

(1) None of 115 non-related Yugoslav ataxic patients belong to any known SCAs nor to DRPLA gene; (2) the distribution of SCA17 alleles in the Yugoslav population is consistent with the distribution in other populations and (3) the paucity of alleles with more than 39 repeats could suggest that SCA17 is very rare in the Yugoslav population.

Keywords: CAG repeats; SCAs; TBP; autosomal-dominant cerebellar ataxias; spinocerebellar ataxia type 17

Document Type: Research Article

DOI: http://dx.doi.org/10.1034/j.1600-0404.2003.00196.x

Affiliations: 1: Het Nederlands Kanker Instituut, Antoni van Leeuwenhoek ziekenhuis, Amsterdam, The Netherlands 2: Department of Physiology and Biophysics, Mount Sinai School of Medicine, New York University, NY, USA 3: Faculty of Biology, University of Belgrade, Belgrade, Yugoslavia 4: School of Medicine, University of Belgrade, Belgrade, Yugoslavia

Publication date: March 1, 2004

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