Spinocerebellar ataxia type 17 in the Yugoslav population

被引：7
作者：
Alendar, A
Culjkovic, B
Savic, D
Djarmati, A
Keckarevic, M
Ristic, A
Dragasevic, N
Kosic, V
Romac, S
机构：
[1] Univ Belgrade, Fac Biol, YU-11000 Belgrade, Serbia
[2] Antoni Van Leeuwenhoek Ziekenhuis, Nederlands Kanker Inst, Amsterdam, Netherlands
[3] NYU, Mt Sinai Sch Med, Dept Physiol & Biophys, New York, NY USA
[4] Univ Belgrade, Sch Med, YU-11000 Belgrade, Serbia
来源：
ACTA NEUROLOGICA SCANDINAVICA | 2004年 / 109卷 / 03期
关键词：
autosomal-dominant cerebellar ataxias; SCAs; spinocerebellar ataxia type 17; TBP; CAG repeats;
D O I：
10.1034/j.1600-0404.2003.00196.x
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
引用
收藏
页码：185 / 187
页数：3
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