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

Neurologia i neurochirurgia polska
Anna Sułek-PiatkowskaJacek Zaremba

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. 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 We...Continue Reading

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Citations

Mar 15, 2011·The Cerebellum·Luis Velázquez-PérezJosé Miguel Laffita-Mesa
May 3, 2011·Parkinsonism & Related Disorders·Hélio A G TeiveTetsuo Ashizawa
May 20, 2016·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Wioletta KrysaJacek Zaremba
Sep 15, 2017·Neuromolecular Medicine·Giovana B BampiUNKNOWN Rede Neurogenetica
Jun 1, 2017·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·T C GhenoUNKNOWN Rede Neurogenetica
Nov 20, 2016·Brain : a Journal of Neurology·Achal K SrivastavaMohammed Faruq
May 8, 2021·Clinical Genetics·Lucas Schenatto SenaLaura Bannach Jardim

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