Different age at onset in two pedigrees with spinocerebellar ataxia type 1 (SCA1) from the same village with similar length of CAG expansions in the SCA1 gene

M. Svetel, B. Culjkovic, O. Stojkovic, N. Dragasevic, E. Stefanova, S. Romac, Vladimir S. Kostic*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

We report two large, unrelated families with spinocerebellar ataxia type 1 (SCA1) from the same village in the southeastern, mountain region of Serbia: Family 1 with 16, and Family 2 with nine affected members, identified in four consecutive generations. They significantly differ in the age at onset (31.8 ± 10.7 and 45.0 ± 8.4 years in Family 1 and Family 2, respectively; p<0.01), despite the lack of difference in the mean number of CAG trinucleotides in the ataxin-1 gene. Analysis of D6S337 haplotypes in SCA1-affected patients suggest that SCA1 expansions in these two families are not from the same origin. Similarity of the length of CAG repeat expansions in the ataxin-1 gene in these two unrelated families, as well as the similarity of environmental factors, suggests that some other, unknown genetic factor(s), could contribute to the variability of the age at onset of SCA1.

Original languageEnglish (US)
Pages (from-to)7-10
Number of pages4
JournalBalkan Journal of Medical Genetics
Volume4
Issue number1-2
StatePublished - 2001
Externally publishedYes

Keywords

  • Age at onset
  • Ataxin-1 gene
  • Environmental factor(s)
  • SCA1
  • Trinucleotides

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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