ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2016
High relative frequency of SCA1 in Poland reflecting a potential founder effect.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.
- Epidemiology of Autosomal Dominant Spinocerebellar Ataxias in Latin America: A Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2025Pooled it
- Epidemiology of Spinocerebellar Ataxias in Europe.Cerebellum (London, England) · 2024Pooled it
- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
- PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases.Journal of assisted reproduction and genetics · 2024Article
- KJournal of neuroscience research · 2023Review
- The emerging roles of long non-coding RNAs in polyglutamine diseases.Journal of cellular and molecular medicine · 2021Review
- Next-Generation Sequencing Technologies and Neurogenetic Diseases.Life (Basel, Switzerland) · 2021Review
- Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA.Frontiers in neurology · 2020Review
- First finding of familial spinal cerebellar Ataxia11 in China: clinical, imaging and genetic features.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Suppression of Mutant Protein Expression in SCA3 and SCA1 Mice Using a CAG Repeat-Targeting Antisense Oligonucleotide.Molecular therapy. Nucleic acids · 2019Article
- Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey.Noro psikiyatri arsivi · 2019Article
- Repeat length variations in polyglutamine disease-associated genes affect body mass index.International journal of obesity (2005) · 2019Article
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Authors and funding
5 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Spinocerebellar ataxias (SCAs) have irregular distributions worldwide. SCA1 is the most frequent in Poland, and no cases of SCA3 of Polish origin has yet been identified. In view of such patterns of SCAs occurrence, the relative frequency, geographical distribution and a possible founder effect of SCA1 were investigated. DNA samples of 134 probands with SCA1 and 228 controls were analysed. The genotyping of four markers, D6S89, D6S109, D6S274, D6S288, around the ATXN1 gene (SCA1) and sequencing of the selected variant of D6S89 were performed. The relative frequency of SCA1 was 68 %. The studied SCA1 pedigrees were irregularly distributed, with the highest concentration in Central Poland. Haplotyping revealed the association of ATXN1 gene mutation with a 197-bp variant of D6S89 marker (63 % of probands) and with a 184-bp variant of DS6274 (50.7 % of probands). Out of 61 SCA1 probands from Mazowieckie, 41 carried the same 197-bp variant. SCA1 relative frequency in Poland shows the highest value compared with the data from other countries worldwide. Due to the association with the mutation obtained for the investigated markers and the SCA1 pedigrees concentration in Central Poland, we hypothesise that it represents a potential founder effect.
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