Instytut Psychiatrii i Neurologii, Zakład Genetyki, ul. Sobieskiego 9, 02-957 Warszawa.
Neurol Neurochir Pol. 2010 May-Jun;44(3):238-45. doi: 10.1016/s0028-3843(14)60037-2.
Autosomal dominant spinocerebellar ataxias (SCAs) belong to a group of neurodegenerative disorders usually of adult age at onset. Predominant clinical features are progressive ataxia, dysarthria, as well as pyramidal signs and polyneuropathy. Molecular analysis allows particular types of SCA to be distinguished. Genetic tests are applied in 10 types of SCA resulting from dynamic mutations: SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17 and DRPLA.
DNA samples from 1598 patients with ataxia symptoms were analysed to establish the number of CAG/CTG repeats in respective genes excluding SCA10.
We diagnosed 224 cases of SCA1 (120 families) and 49 cases of SCA2 (23 families). Moreover, presymptomatic testing was done in 85 individuals from SCA1 families and for 21 cases from SCA2 families. An increased number of CTG repeats in the SCA8 gene was observed in 14 families and in 3 families a rare type of SCA, SCA17, was detected.
Our data suggest that frequencies of some types of SCA in Poland are different from those in other European countries, with irregular distribution within the country. The most frequent types are SCA1 and SCA2. A striking feature of the Polish population is the lack of SCA3 - the most frequent type in Western Europe.
常染色体显性遗传性小脑共济失调（SCA）属于一组神经退行性疾病，通常在成年期发病。主要临床特征为进行性共济失调、构音障碍以及锥体束征和多发性神经病。分子分析可区分特定类型的 SCA。遗传测试适用于由动态突变引起的 10 种 SCA：SCA1、SCA2、SCA3、SCA6、SCA7、SCA8、SCA10、SCA12、SCA17 和 DRPLA。
分析了 1598 例有共济失调症状的患者的 DNA 样本，以确定除 SCA10 以外的各基因中 CAG/CTG 重复的数量。
我们诊断了 224 例 SCA1（120 个家系）和 49 例 SCA2（23 个家系）。此外，对 SCA1 家系的 85 名个体和 SCA2 家系的 21 名个体进行了症状前检测。在 14 个 SCA8 基因家系中观察到 CTG 重复数增加，在 3 个家系中检测到罕见的 SCA17 型。
我们的数据表明，波兰某些类型 SCA 的频率与其他欧洲国家不同，且在国内分布不均匀。最常见的类型是 SCA1 和 SCA2。波兰人群的一个显著特征是缺乏 SCA3，这是西欧最常见的类型。
