The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients
| Autor: | Maria Rakowicz, Walentyna Szirkowiec, Jacek Zaremba, Elzbieta Zdzienicka, Wioletta Krysa, Marta Rajkiewicz, Anna Sułek-Piątkowska |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities RNA Untranslated Ataxia DNA Mutational Analysis Nerve Tissue Proteins Polish population Ataxin-10 Dysarthria Gene Frequency medicine Humans Spinocerebellar Ataxias Presymptomatic Testing Protein Phosphatase 2 Age of Onset Ataxin-3 Alleles Ataxin-1 Aged Ataxin-7 Genetics business.industry Nuclear Proteins Spectrin Middle Aged TATA-Box Binding Protein medicine.disease Molecular analysis Repressor Proteins Genetics Population Ataxins Mutation Spinocerebellar ataxia Female RNA Long Noncoding Surgery Calcium Channels Poland Neurology (clinical) medicine.symptom Trinucleotide repeat expansion business Polyneuropathy |
| Zdroj: | Neurologia i Neurochirurgia Polska. 44:238-245 |
| ISSN: | 0028-3843 |
| DOI: | 10.1016/s0028-3843(14)60037-2 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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