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The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients
Affiliations- Katedra Pediatrii, Zakład Genetyki Medycznej, Uniwersytet Jagielloński, Collegium Medicum, Wielicka 265, 30663 Kraków, Poland
- Zakład Neurofizjologii, Instytut Psychiatrii i Neurologii w Warszawie
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Abstract
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 methodsDNA samples from 1598 patients with ataxia symptoms were analysed to establish the number of CAG/CTG repeats in respective genes excluding SCA10.
ResultsWe 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.
ConclusionsOur 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
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 methodsDNA samples from 1598 patients with ataxia symptoms were analysed to establish the number of CAG/CTG repeats in respective genes excluding SCA10.
ResultsWe 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.
ConclusionsOur 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.
Keywords
spinocerebellar ataxias (SCA), dynamic mutations, CAG repeats
About this articleTitle
The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
238-245
Page views
366
Article views/downloads
958
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
