open access

Vol 44, No 3 (2010)
ARTYKUŁ ORYGINALNY
Submitted: 2009-11-12
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The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients

Anna Sułek-Piątkowska, Elżbieta Zdzienicka, Maria Rakowicz, Wioletta Krysa, Marta Rajkiewicz, Walentyna Szirkowiec, Jacek Zaremba
DOI: 10.1016/S0028-3843(14)60037-2
·
Neurol Neurochir Pol 2010;44(3):238-245.

open access

Vol 44, No 3 (2010)
ARTYKUŁ ORYGINALNY
Submitted: 2009-11-12

Abstract

Background and purpose

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.

Material and methods

DNA samples from 1598 patients with ataxia symptoms were analysed to establish the number of CAG/CTG repeats in respective genes excluding SCA10.

Results

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.

Conclusions

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.

Abstract

Background and purpose

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.

Material and methods

DNA samples from 1598 patients with ataxia symptoms were analysed to establish the number of CAG/CTG repeats in respective genes excluding SCA10.

Results

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.

Conclusions

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.

Get Citation

Keywords

spinocerebellar ataxias (SCA), dynamic mutations, CAG repeats

About this article
Title

The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 44, No 3 (2010)

Pages

238-245

DOI

10.1016/S0028-3843(14)60037-2

Bibliographic record

Neurol Neurochir Pol 2010;44(3):238-245.

Keywords

spinocerebellar ataxias (SCA)
dynamic mutations
CAG repeats

Authors

Anna Sułek-Piątkowska
Elżbieta Zdzienicka
Maria Rakowicz
Wioletta Krysa
Marta Rajkiewicz
Walentyna Szirkowiec
Jacek Zaremba

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