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Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion

100%

Bauer P. O., Matoska V., Zumrova A., Boday A., Doi H., Marikova T., Goetz P.

Journal of Applied Genetics

2005

vol. 46

issue 3

325-328

We report on a family with spinocerebellar ataxia type 1 (SCA1), in which the age at onset and the severity of the disease do not correlate with the number of CAG repeat units. Although a marked anticipation was observed in the proband, it was not a consequence of an expansion of the CAG tract. None of the expanded alleles contained CAT interruptions. The pathologic expansion in this family was stable during the paternal but not maternal transmission, where it expanded by one trinucleotide and unexpectedly did not lead to anticipation. Our observations suggest that factors other than the length of the CAG repeat play a considerable role in determination of the disease course.

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group

51%

Sulek A., Hoffman-Zacharska D., Bednarska-Makaruk M., Szirkowiec W., Zaremba J.

Journal of Applied Genetics

2004

vol. 45

issue 1

101-105

Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders caused by dynamic mutations of microsatellite repeats. Two novel forms of SCAs have been described recently: SCA8, with expansions of CTA/CTG repeats in 3?UTR of the SCA8 gene, and SCA12, caused by expansion of the CAG tract in 5?UTR of the SCA12/PP2R2B gene. Analysis of CTA/CTG and CAG polymorphism in those two genes was performed in a Polish control group consisting of 100 individuals without any neurological signs. The distribution and ranges of the number of non-pathogenic repeats were similar to those observed in other populations described previously. Expansion of CTA/CTG repeats in the SCA8 locus was found in 2 of 100 controls and in 5 probands among 150 pedigrees affected with unidentified ataxias. As such expanded alleles were also observed in their healthy relatives, the pathogenic role of expansions in the SCA8 gene remains uncertain.

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2 Journal of Applied Genetics

1 2005

1 2004

1 Bauer P. O.

1 Bednarska-Makaruk M.

1 Boday A.

1 Doi H.

1 Goetz P.

1 Hoffman-Zacharska D.

1 Marikova T.

1 Matoska V.

1 Sulek A.

1 Szirkowiec W.

1 Zaremba J.

1 Zumrova A.

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Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group