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


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.
Sułek-Piatkowska
Anna
A
Instytut Psychiatrii i Neurologii, Zakład Genetyki, ul. Sobieskiego 9, 02-957 Warszawa. suleka@ipin.edu.pl
Zdzienicka
Elzbieta
E
Raczyńska-Rakowicz
Maria
M
Krysa
Wiolleta
W
Rajkiewicz
Marta
M
Szirkowiec
Walentyna
W
Zaremba
Jacek
J
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D000067696:Ataxin-1; D000067736:Ataxin-10; D000067699:Ataxin-3; D000067719:Ataxin-7; D000067528:Ataxins; D015220:Calcium Channels / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D011044:Poland / Q000453:epidemiology; D054648:Protein Phosphatase 2 / Q000235:genetics; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D012097:Repressor Proteins / Q000235:genetics*; D013049:Spectrin / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics*; D035181:TATA-Box Binding Protein / Q000235:genetics; D020864:Calcium Channels, N-Type
D000067696:Ataxin-1; D000067736:Ataxin-10; D000067699:Ataxin-3; D000067719:Ataxin-7; D000067528:Ataxins; D015220:Calcium Channels; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D054648:Protein Phosphatase 2; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D012097:Repressor Proteins; D013049:Spectrin; D035181:TATA-Box Binding Protein; C000593749:ATXN1 protein, human; C503889:ATXN10 protein, human; C000593829:ATXN7 protein, human; C415906:ATXN8OS gene product, human; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C495133:SPTBN2 protein, human; C509817:TBP protein, human; C505936:PPP2R2B protein, human; C092341:ATXN3 protein, human